Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1778
Gene name	Dynein cytoplasmic 1 heavy chain 1
Gene symbol	DYNC1H1
Synonyms (NCBI Gene)	CDCBM13CMT2ODHC1DHC1aDNCH1DNCLDNECLDYHCDnchc1HL-3SMALED1p22
Chromosome	14
Chromosome location	14q32.31
Summary	Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transp

Show/Hide all (88)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34338935	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs35546990	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs117846737	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs140841480	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs141525226	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142883042	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145487328	C>G,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146075696	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs146220233	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150286673	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150687712	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs186932188	G>A	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372740994	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs373636519	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373682811	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs387906738	A>G	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs387906740	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906741	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs387906742	A>G	Pathogenic	Coding sequence variant, missense variant
rs387906743	A>G	Pathogenic	Coding sequence variant, missense variant
rs397509410	G>T	Pathogenic	Coding sequence variant, missense variant
rs397509411	G>A	Pathogenic	Coding sequence variant, missense variant
rs397509412	G>A	Pathogenic	Coding sequence variant, missense variant
rs547205132	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587780564	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587781253	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs713993043	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727505393	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs749647281	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs755411424	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757725348	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs760532492	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs760971556	C>A,G	Uncertain-significance, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs763711252	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs766837403	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs772002773	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs794727634	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs797044901	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797044918	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044928	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045177	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045178	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs797045535	G>A	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs863223361	G>A	Pathogenic	Coding sequence variant, missense variant
rs866242352	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312693	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253881	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253956	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253971	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879253979	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs879254019	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879254085	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs879254112	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs879254164	C>T	Pathogenic	Coding sequence variant, missense variant
rs879254267	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs879254284	G>A,C	Likely-pathogenic	Intron variant
rs1047509819	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518083	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057518250	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518287	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518776	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518935	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518961	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523839	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795677	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796765	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1327664377	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1383117534	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555408829	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555409836	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555409850	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555410010	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555410129	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411143	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411305	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1555411378	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411394	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555411399	G>A	Pathogenic	Coding sequence variant, missense variant
rs1566999047	A>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1567010427	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567018763	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1567019064	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1595597572	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1595597963	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595599240	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1595605449	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1595608413	A>G	Likely-pathogenic	Splice acceptor variant
rs1595609005	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023355	hsa-miR-122-5p	Microarray	17612493
MIRT052059	hsa-let-7b-5p	CLASH	23622248
MIRT049178	hsa-miR-92a-3p	CLASH	23622248
MIRT048724	hsa-miR-96-5p	CLASH	23622248
MIRT046872	hsa-miR-221-3p	CLASH	23622248
MIRT045390	hsa-miR-149-5p	CLASH	23622248
MIRT045390	hsa-miR-149-5p	CLASH	23622248
MIRT040034	hsa-miR-615-3p	CLASH	23622248
MIRT037838	hsa-miR-455-3p	CLASH	23622248
MIRT440765	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440763	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT440762	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440761	hsa-miR-544a	HITS-CLIP	24374217
MIRT440765	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440763	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT440762	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440761	hsa-miR-544a	HITS-CLIP	24374217
MIRT948805	hsa-miR-4691-5p	CLIP-seq
MIRT948806	hsa-miR-516a-3p	CLIP-seq
MIRT1981176	hsa-miR-1238	CLIP-seq
MIRT1981177	hsa-miR-4297	CLIP-seq
MIRT1981176	hsa-miR-1238	CLIP-seq
MIRT2216243	hsa-miR-3591-5p	CLIP-seq
MIRT2216244	hsa-miR-4255	CLIP-seq
MIRT2436902	hsa-miR-150	CLIP-seq
MIRT2436903	hsa-miR-362-5p	CLIP-seq
MIRT2436904	hsa-miR-3667-3p	CLIP-seq
MIRT2436905	hsa-miR-3692	CLIP-seq
MIRT948805	hsa-miR-4691-5p	CLIP-seq
MIRT2436906	hsa-miR-4774-5p	CLIP-seq
MIRT2436907	hsa-miR-500b	CLIP-seq
MIRT2436908	hsa-miR-501-5p	CLIP-seq
MIRT948806	hsa-miR-516a-3p	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	15161933, 17043677, 17500595, 17548833, 21163940, 31092558, 31413325, 32814053, 35271311, 36692009, 36950384, 38547289
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614, 28602352
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	21723285, 25272277
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IPI	24986880
GO:0005868	Component	Cytoplasmic dynein complex	NAS	8666668
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0005938	Component	Cell cortex	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	NAS	8227145
GO:0007097	Process	Nuclear migration	IBA
GO:0008090	Process	Retrograde axonal transport	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IDA	21723285
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030175	Component	Filopodium	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0032388	Process	Positive regulation of intracellular transport	IMP	27462074
GO:0032388	Process	Positive regulation of intracellular transport	NAS	33957056
GO:0033962	Process	P-body assembly	IEA
GO:0033962	Process	P-body assembly	ISS
GO:0034063	Process	Stress granule assembly	IEA
GO:0034063	Process	Stress granule assembly	ISS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042802	Function	Identical protein binding	IDA	28602352
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051293	Process	Establishment of spindle localization	IMP	23027904
GO:0051301	Process	Cell division	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IPI	25272277
GO:0060236	Process	Regulation of mitotic spindle organization	IMP	23027904
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 21362503, 23533145
GO:0090235	Process	Regulation of metaphase plate congression	IMP	27462074
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	20887786
GO:1904115	Component	Axon cytoplasm	IEA
GO:1905832	Process	Positive regulation of spindle assembly	IMP	27462074

MIM	HGNC	e!Ensembl
600112	2961	ENSG00000197102

Q14204

Protein name

Cytoplasmic dynein 1 heavy chain 1 (Cytoplasmic dynein heavy chain 1) (Dynein heavy chain, cytosolic)

Protein function

Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mit

PDB

5NUG , 5OWO , 6F1T , 6F1U , 6F1V , 6F1Y , 6F38 , 6F3A , 7Z8F , 7Z8G , 7Z8H , 7Z8I , 7Z8J , 7Z8K , 7Z8L , 8DYU , 8DYV , 8FCY , 8FD6 , 8FDT , 8FDU , 8PQV , 8PQW , 8PQY , 8PQZ , 8PR0 , 8PR1 , 8PR2 , 8PR3 , 8PTK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08385	DHC_N1	242 → 832	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1319 → 1720	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1868 → 2231	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2423 → 2550	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2557 → 2739		Domain
PF12780	AAA_8	2907 → 3186	P-loop containing dynein motor region D4	Domain
PF12777	MT	3199 → 3536	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3560 → 3780	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	4036 → 4146	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	4160 → 4327	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4333 → 4644	Dynein heavy chain C-terminal domain	Domain

Sequence

MSEPGGGGGEDGSAGLEVSAVQNVADVSVLQKHLRKLVPLLLEDGGEAPAALEAALEEKS
ALEQMRKFLSDPQVHTVLVERSTLKEDVGDEGEEEKEFISYNINIDIHYGVKSNSLAFIK
RTPVIDADKPVSSQLRVLTLSEDSPYETLHSFISNAVAPFFKSYIRESGKADRDGDKMAP
SVEKKIAELEMGLLHLQQNIEIPEISLPIHPMITNVAKQCYERGEKPKVTDFGDKVEDPT
FLNQLQSGVNRWIREIQKVTKLDRDPASGTALQEISFWLNLERALYRIQEKRESPEVLLT
LDILKHGKRFHATVSFDTDTGLKQALETVNDYNPLMKDFPLNDLLSATELDKIRQALVAI
FTHLRKIRNTKYPIQRALRLVEAISRDLSSQLLKVLGTRKLMHVAYEEFEKVMVACFEVF
QTWDDEYEKLQVLLRDIVKRKREENLKMVWRINPAHRKLQARLDQMRKFRRQHEQLRAVI
VRVLRPQVTAVAQQNQGEVPEPQDMKVAEVLFDAADANAIEEVNLAYENVKEVDGLDVSK
EGTEAWEAAMKRYDERIDRVETRITARLRDQLGTAKNANEMFRIFSRFNALFVRPHIRGA
IREYQTQLIQRVKDDIESLHDKFKVQYPQSQACKMSHVRDLPPVSGSIIWAKQIDRQLTA
YMKRVEDVLGKGWENHVEGQKLKQDGDSFRMKLNTQEIFDDWARKVQQRNLGVSGRIFTI
ESTRVRGRTGNVLKLKVNFLPEIITLSKEVRNLKWLGFRVPLAIVNKAHQANQLYPFAIS
LIESVRTYERTCEKVEERNTISLLVAGLKKEVQALIAEGIALVWESYKLDPYVQRLAETV
FNFQEKVDDLLIIEEKIDLEVRSLETCMYDHKTFSEILNRVQKAVDDLNLHSYSNLPIWV
NKLDMEIERILGVRLQAGLRAWTQVLLGQAEDKAEVDMDTDAPQVSHKPGGEPKIKNVVH
ELRITNQVIYLNPPIEECRYKLYQEMFAWKMVVLSLPRIQSQRYQVGVHYELTEEEKFYR
NALTRMPDGPVALEESYSAVMGIVSEVEQYVKVWLQYQCLWDMQAENIYNRLGEDLNKWQ
ALLVQIRKARGTFDNAETKKEFGPVVIDYGKVQSKVNLKYDSWHKEVLSKFGQMLGSNMT
EFHSQISKSRQELEQHSVDTASTSDAVTFITYVQSLKRKIKQFEKQVELYRNGQRLLEKQ
RFQFPPSWLYIDNIEGEWGAFNDIMRRKDSAIQQQVANLQMKIVQEDRAVESRTTDLLTD
WEKTKPVTGNLRPEEALQALTIYEGKFGRLKDDREKCAKAKEALELTDTGLLSGSEERVQ
VALEELQDLKGVWSELSKVWEQIDQMKEQPWVSVQPRKLRQNLDALLNQLKSFPARLRQY
ASYEFVQRLLKGYMKINMLVIELKSEALKDRHWKQLMKRLHVNWVVSELTLGQIWDVDLQ
KNEAIVKDVLLVAQGEMALEEFLKQIREVWNTYELDLVNYQNKCRLIRGWDDLFNKVKEH
INSVSAMKLSPYYKVFEEDALSWEDKLNRIMALFDVWIDVQRRWVYLEGIFTGSADIKHL
LPVETQRFQSISTEFLALMKKVSKSPLVMDVLNIQGVQRSLERLADLLGKIQKALGEYLE
RERSSFPRFYFVGDEDLLEIIGNSKNVAKLQKHFKKMFAGVSSIILNEDNSVVLGISSRE
GEEVMFKTPVSITEHPKINEWLTLVEKEMRVTLAKLLAESVTEVEIFGKATSIDPNTYIT
WIDKYQAQLVVLSAQIAWSENVETALSSMGGGGDAAPLHSVLSNVEVTLNVLADSVLMEQ
PPLRRRKLEHLITELVHQRDVTRSLIKSKIDNAKSFEWLSQMRFYFDPKQTDVLQQLSIQ
MANAKFNYGFEYLGVQDKLVQTPLTDRCYLTMTQALEARLGGSPFGPAGTGKTESVKALG
HQLGRFVLVFNCDETFDFQAMGRIFVGLCQVGAWGCFDEFNRLEERMLSAVSQQVQCIQE
ALREHSNPNYDKTSAPITCELLNKQVKVSPDMAIFITMNPGYAGRSNLPDNLKKLFRSLA
MTKPDRQLIAQVMLYSQGFRTAEVLANKIVPFFKLCDEQLSSQSHYDFGLRALKSVLVSA
GNVKRERIQKIKREKEERGEAVDEGEIAENLPEQEILIQSVCETMVPKLVAEDIPLLFSL
LSDVFPGVQYHRGEMTALREELKKVCQEMYLTYGDGEEVGGMWVEKVLQLYQITQINHGL
MMVGPSGSGKSMAWRVLLKALERLEGVEGVAHIIDPKAISKDHLYGTLDPNTREWTDGLF
THVLRKIIDSVRGELQKRQWIVFDGDVDPEWVENLNSVLDDNKLLTLPNGERLSLPPNVR
IMFEVQDLKYATLATVSRCGMVWFSEDVLSTDMIFNNFLARLRSIPLDEGEDEAQRRRKG
KEDEGEEAASPMLQIQRDAATIMQPYFTSNGLVTKALEHAFQLEHIMDLTRLRCLGSLFS
MLHQACRNVAQYNANHPDFPMQIEQLERYIQRYLVYAILWSLSGDSRLKMRAELGEYIRR
ITTVPLPTAPNIPIIDYEVSISGEWSPWQAKVPQIEVETHKVAAPDVVVPTLDTVRHEAL
LYTWLAEHKPLVLCGPPGSGKTMTLFSALRALPDMEVVGLNFSSATTPELLLKTFDHYCE
YRRTPNGVVLAPVQLGKWLVLFCDEINLPDMDKYGTQRVISFIRQMVEHGGFYRTSDQTW
VKLERIQFVGACNPPTDPGRKPLSHRFLRHVPVVYVDYPGPASLTQIYGTFNRAMLRLIP
SLRTYAEPLTAAMVEFYTMSQERFTQDTQPHYIYSPREMTRWVRGIFEALRPLETLPVEG
LIRIWAHEALRLFQDRLVEDEERRWTDENIDTVALKHFPNIDREKAMSRPILYSNWLSKD
YIPVDQEELRDYVKARLKVFYEEELDVPLVLFNEVLDHVLRIDRIFRQPQGHLLLIGVSG
AGKTTLSRFVAWMNGLSVYQIKVHRKYTGEDFDEDLRTVLRRSGCKNEKIAFIMDESNVL
DSGFLERMNTLLANGEVPGLFEGDEYATLMTQCKEGAQKEGLMLDSHEELYKWFTSQVIR
NLHVVFTMNPSSEGLKDRAATSPALFNRCVLNWFGDWSTEALYQVGKEFTSKMDLEKPNY
IVPDYMPVVYDKLPQPPSHREAIVNSCVFVHQTLHQANARLAKRGGRTMAITPRHYLDFI
NHYANLFHEKRSELEEQQMHLNVGLRKIKETVDQVEELRRDLRIKSQELEVKNAAANDKL
KKMVKDQQEAEKKKVMSQEIQEQLHKQQEVIADKQMSVKEDLDKVEPAVIEAQNAVKSIK
KQHLVEVRSMANPPAAVKLALESICLLLGESTTDWKQIRSIIMRENFIPTIVNFSAEEIS
DAIREKMKKNYMSNPSYNYEIVNRASLACGPMVKWAIAQLNYADMLKRVEPLRNELQKLE
DDAKDNQQKANEVEQMIRDLEASIARYKEEYAVLISEAQAIKADLAAVEAKVNRSTALLK
SLSAERERWEKTSETFKNQMSTIAGDCLLSAAFIAYAGYFDQQMRQNLFTTWSHHLQQAN
IQFRTDIARTEYLSNADERLRWQASSLPADDLCTENAIMLKRFNRYPLIIDPSGQATEFI
MNEYKDRKITRTSFLDDAFRKNLESALRFGNPLLVQDVESYDPVLNPVLNREVRRTGGRV
LITLGDQDIDLSPSFVIFLSTRDPTVEFPPDLCSRVTFVNFTVTRSSLQSQCLNEVLKAE
RPDVDEKRSDLLKLQGEFQLRLRQLEKSLLQALNEVKGRILDDDTIITTLENLKREAAEV
TRKVEETDIVMQEVETVSQQYLPLSTACSSIYFTMESLKQIHFLYQYSLQFFLDIYHNVL
YENPNLKGVTDHTQRLSIITKDLFQVAFNRVARGMLHQDHITFAMLLARIKLKGTVGEPT
YDAEFQHFLRGNEIVLSAGSTPRIQGLTVEQAEAVVRLSCLPAFKDLIAKVQADEQFGIW
LDSSSPEQTVPYLWSEETPATPIGQAIHRLLLIQAFRPDRLLAMAHMFVSTNLGESFMSI
MEQPLDLTHIVGTEVKPNTPVLMCSVPGYDASGHVEDLAAEQNTQITSIAIGSAEGFNQA
DKAINTAVKSGRWVMLKNVHLAPGWLMQLEKKLHSLQPHACFRLFLTMEINPKVPVNLLR
AGRIFVFEPPPGVKANMLRTFSSIPVSRICKSPNERARLYFLLAWFHAIIQERLRYAPLG
WSKKYEFGESDLRSACDTVDTWLDDTAKGRQNISPDKIPWSALKTLMAQSIYGGRVDNEF
DQRLLNTFLERLFTTRSFDSEFKLACKVDGHKDIQMPDGIRREEFVQWVELLPDTQTPSW
LGLPNNAERVLLTTQGVDMISKMLKMQMLEDEDDLAYAETEKKTRTDSTSDGRPAWMRTL
HTTASNWLHLIPQTLSHLKRTVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEG
KKKQTNYLRTLINELVKGILPRSWSHYTVPAGMTVIQWVSDFSERIKQLQNISLAAASGG
AKELKNIHVCLGGLFVPEAYITATRQYVAQANSWSLEELCLEVNVTTSQGATLDACSFGV
TGLKLQGATCNNNKLSLSNAISTALPLTQLRWVKQTNTEKKASVVTLPVYLNFTRADLIF
TVDFEIATKEDPRSFYERGVAVLCTE

Sequence length

4646

Interactions

View interactions

	KEGG		Reactome
	Phagosome Motor proteins Vasopressin-regulated water reabsorption Salmonella infection		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion Regulation of PLK1 Activity at G2/M Transition HSP90 chaperone cycle for steroid hormone receptors (SHR) Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane RHO GTPases Activate Formins Neutrophil degranulation COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase AURKA Activation by TPX2 HCMV Early Events Aggrephagy EML4 and NUDC in mitotic spindle formation

5072

Show/Hide Causal Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Pathogenic	rs2152577516	RCV002275904
Abnormality of neuronal migration	Likely pathogenic	rs863223361	RCV000201421
Abnormality of the nervous system	Likely pathogenic	rs2152592115	RCV001814374
Autism spectrum disorder	Likely pathogenic	rs2503731165	RCV003127281
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	Likely pathogenic; Pathogenic	rs2141274671, rs2152590132, rs587780564, rs2141274749, rs713993043, rs2141280750, rs2141280974, rs727505393, rs863223361, rs77216005, rs879254085, rs879253881, rs2503751017, rs1057518083, rs1057518287 View all (3 more)	RCV004554862 RCV001814714 RCV000144249 RCV002052120 RCV002249032 RCV002249033 RCV002249922 RCV004786416 RCV002284371 RCV003325414 RCV005252835 RCV003223399 RCV003234953 RCV003333565 RCV000625972 RCV000762920 RCV000055662 RCV000022934 RCV000995759
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs387906738	RCV000192255
Charcot-Marie-Tooth disease axonal type 2O	Pathogenic; Likely pathogenic	rs1351401023, rs2141274671, rs2152592202, rs2152591288, rs879253979, rs2152590132, rs2141272574, rs2152594747, rs587780564, rs377013246, rs713993043, rs2503812014, rs2503715383, rs2503693934, rs797044901 View all (34 more)	RCV001361479 RCV001389363 RCV002032609 RCV001882790 RCV002540608 RCV001814714 RCV002030799 RCV001894462 RCV000755714 RCV002018409 RCV003447119 RCV002305123 RCV002306232 RCV002647510 RCV001852534 RCV001857674 RCV002514093 RCV002824653 RCV002863367 RCV003050140 RCV001854863 RCV001854846 RCV003642883 RCV003333566 RCV003528534 RCV003528945 RCV003529632 RCV000809340 RCV000762920 RCV001198404 RCV000022929 RCV003447094 RCV002525958 RCV001824815 RCV000549631 RCV000693395 RCV003447242 RCV003447244 RCV003447245 RCV000824829 RCV003447109 RCV001262933 RCV001858605 RCV000989260 RCV000989261 RCV000989264 RCV001047378 RCV001213489 RCV003642958
Delayed gross motor development	Likely pathogenic; Pathogenic	rs1057518961	RCV000414777
Delayed speech and language development	Likely pathogenic; Pathogenic	rs1057518961	RCV000414777
DYNC1H1-related disorder	Pathogenic; Likely pathogenic	rs1370693832, rs377013246, rs757725348, rs2503726588, rs2503714640, rs2503750754, rs1064796765, rs1555411305, rs879254267, rs1555408829	RCV004728778 RCV003911154 RCV005868166 RCV004548509 RCV003404646 RCV003897302 RCV004745423 RCV004551627 RCV006270390 RCV003900090
DYNC1H1-related neurodevelopmental disorders	Pathogenic	rs879253881	RCV001249748
Gastric cancer	Likely pathogenic	rs2152596521	RCV005931962
Global developmental delay	Likely pathogenic; Pathogenic	rs1057518776, rs1057518961	RCV000414994 RCV000414777
Hereditary motor and sensory neuropathy	Likely pathogenic; Pathogenic	rs587780564	RCV000149555
Hypotonia	Likely pathogenic	rs1057518776	RCV000414994
Intellectual disability	Likely pathogenic; Pathogenic	rs797044901, rs397509412, rs1595629181, rs1595609005, rs2047950288, rs2047998539, rs1236304133	RCV001261370 RCV001255327 RCV001004059 RCV001004061 RCV001255359 RCV001260669 RCV001260667
Intellectual disability, autosomal dominant 13	Likely pathogenic; Pathogenic	rs2048322542, rs2152590264, rs2141274671, rs2141276717, rs2152591288, rs2152596521, rs2152581547, rs2152590132, rs2152594747, rs587780564, rs2152589131, rs2152583773, rs2503757710, rs797044901, rs797044918 View all (29 more)	RCV001335828 RCV001376172 RCV004554862 RCV001650480 RCV001726716 RCV001775260 RCV001775383 RCV001814714 RCV002287510 RCV000762919 RCV002267563 RCV002274448 RCV002287630 RCV004796088 RCV001808529 RCV000191045 RCV000191046 RCV000193672 RCV000196858 RCV000209943 RCV003123316 RCV003149147 RCV003224929 RCV003224950 RCV003314536 RCV005417395 RCV003330271 RCV003333567 RCV003338024 RCV004796168 RCV000762920 RCV003223402 RCV000626029 RCV000504317 RCV000503154 RCV000656085 RCV001824815 RCV000578240 RCV000590898 RCV000049271 RCV000049272 RCV001030994 RCV001251974 RCV001262493 RCV002471064
Lissencephaly	Likely pathogenic; Pathogenic	rs797045177, rs797045178, rs797045529, rs757725348, rs1064796765, rs397509412, rs1566996726, rs2047935205, rs2047938879, rs2048330550, rs2048519381, rs2048611744	RCV001291169 RCV001291061 RCV001291074 RCV001291072 RCV001291066 RCV001291070 RCV001291059 RCV001291062 RCV001291063 RCV001291067 RCV001291069 RCV001291075
Lower limb muscle weakness	Likely pathogenic	rs1595605449	RCV001004063
Microcephaly	Likely pathogenic; Pathogenic	rs1057518961	RCV000414777
Motor delay	Likely pathogenic	rs1057518776	RCV000414994
Neurodevelopmental delay	Likely pathogenic	rs2152592151	RCV002274411
Neuronopathy, distal hereditary motor, autosomal dominant	Pathogenic; Likely pathogenic	rs879254085, rs1595599240, rs1595600898, rs1555408333	RCV000789735 RCV000789733 RCV000789736 RCV000789737
Polymicrogyria	Likely pathogenic	rs1057518776	RCV000414994
Progressive muscle weakness	Likely pathogenic; Pathogenic	rs1327664377	RCV001004062
Seizure	Likely pathogenic; Pathogenic	rs1057518961, rs2048519381	RCV000414777 RCV001849500
Spinal muscular atrophy	Pathogenic	rs713993043	RCV000149554
Spinal muscular atrophy with lower extremity predominance	Likely pathogenic; Pathogenic	rs757725348, rs1555408829, rs1595600898	RCV002051830 RCV001824815 RCV001578270

Show/Hide Unknown Diseases (46)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs118014540, rs202110844	RCV005919137 RCV005893247
Amyotrophic lateral sclerosis	Uncertain significance	rs2141285787	RCV001554277
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	rs778115137, rs1595633027	RCV000855520 RCV000855523
Asphyxiating thoracic dystrophy 3	Uncertain significance; Conflicting classifications of pathogenicity	rs575285403, rs751769427, rs775895683, rs2503865787, rs376679623	RCV004820903 RCV003992709 RCV005860048 RCV003990907 RCV005860121
Autosomal dominant cerebellar ataxia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs377669980, rs17512054, rs17541505, rs10129889, rs13749, rs149300055, rs17541657, rs1004903, rs17512082, rs12893215, rs34690489, rs17540957, rs2273437, rs3818188, rs17512439 View all (164 more)	RCV000286742 RCV000364130 RCV000344733 RCV000384271 RCV000377353 RCV001109550 RCV000290562 RCV000350794 RCV000405935 RCV000344132 RCV000404178 RCV000360204 RCV000389324 RCV000354888 RCV000386054 RCV000355072 RCV000333097 RCV000326988 RCV000263981 RCV000378222 RCV000337451 RCV001115070 RCV000317558 RCV001110418 RCV000389663 RCV000270738 RCV001110505 RCV000296295 RCV001111362 RCV000317967 RCV001112119 RCV001111829 RCV000367386 RCV000392925 RCV001114750 RCV001109222 RCV000297437 RCV000334726 RCV001112195 RCV000264240 RCV000385081 RCV001114646 RCV001111363 RCV000378924 RCV001114649 RCV000330302 RCV000300789 RCV000297581 RCV000378339 RCV000294357 RCV000386743 RCV000355957 RCV000326881 RCV000286877 RCV000359215 RCV000343017 RCV000338147 RCV000313957 RCV000324697 RCV000290688 RCV000360510 RCV000367593 RCV000408098 RCV000355098 RCV000379034 RCV000311118 RCV000270296 RCV000325381 RCV000365771 RCV000346699 RCV000403559 RCV000331295 RCV000352196 RCV000299104 RCV000369017 RCV000307863 RCV000324226 RCV000347814 RCV000358390 RCV000365219 RCV000272923 RCV000330814 RCV000384906 RCV000352987 RCV000305688 RCV000326958 RCV000321103 RCV000392147 RCV000278781 RCV000377958 RCV000327343 RCV000329153 RCV000313195 RCV000286570 RCV000301690 RCV000332939 RCV000381918 RCV000392223 RCV000379272 RCV000315924 RCV000276047 RCV000374962 RCV000288807 RCV000277518 RCV000376780 RCV000286503 RCV000352772 RCV001114542 RCV001109329 RCV001111749 RCV001110992 RCV001110993 RCV001114864 RCV001111650 RCV001111461 RCV001113559 RCV001114963 RCV001111651 RCV001114965 RCV001114648 RCV001109225 RCV001111462 RCV001109221 RCV001114353 RCV001114868 RCV001110334 RCV001113555 RCV001114964 RCV001115071 RCV001109549 RCV001113640 RCV001109011 RCV001111748 RCV001111165 RCV001109223 RCV001111168 RCV001110506 RCV001110990 RCV001114350 RCV001114966 RCV001112120 RCV001113468 RCV001110908 RCV001110910 RCV001114260 RCV001114261 RCV001110240 RCV001110241 RCV001110989 RCV001114351 RCV001114354 RCV001113064 RCV001113066 RCV001113067 RCV001114451 RCV001110420 RCV001114543 RCV001110504 RCV001111266 RCV001113270 RCV001113273 RCV001114645 RCV001109012 RCV001113373 RCV001113375 RCV001114751 RCV001113467 RCV001114865 RCV001113557 RCV001109327 RCV001112118 RCV001115069 RCV001111747 RCV001115174 RCV001111828 RCV001112299 RCV001109627 RCV001109629 RCV001111076 RCV001111167 RCV001114753
Charcot-Marie-Tooth disease type 2	Conflicting classifications of pathogenicity	rs770425304, rs886050371	RCV000342108 RCV000401469
Charcot-Marie-Tooth disease type 4	Likely benign	rs374602014	RCV000856947
Charcot-Marie-Tooth disease type 5	Conflicting classifications of pathogenicity; Likely benign	rs200971499, rs201272954	RCV005871294 RCV000856953
Charcot-Marie-Tooth disease, type I	Uncertain significance; Likely benign	rs1595590195, rs1595617838, rs201272954, rs199966256	RCV000856940 RCV000856949 RCV000856951 RCV000856957
Cholangiocarcinoma	Likely benign	rs185223287	RCV005931052
Corpus callosum, agenesis of	Uncertain significance	rs1555412533	RCV000626804
Distal lower limb amyotrophy	Conflicting classifications of pathogenicity	rs879253979	RCV000414974
Distal lower limb muscle weakness	Conflicting classifications of pathogenicity	rs1057518935	RCV000415281
Distal myopathy	Conflicting classifications of pathogenicity	rs369653555	RCV005626231
Distal spinal muscular atrophy	Uncertain significance; Likely benign	rs1244748017, rs1350501046, rs1400787976, rs1265590172, rs201272954	RCV001027463 RCV000856941 RCV000856942 RCV000856943 RCV000856952
DYNC1H1-related neurological disorders	Conflicting classifications of pathogenicity	rs713993043	RCV003985080
DYNC1H1-related neuronopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs2141274838, rs754437318, rs114021657	RCV002466716 RCV002466504 RCV001095780
Dyneinopathy	Conflicting classifications of pathogenicity	rs879253979	RCV004719809
Ectopic tissue	Uncertain significance	rs1555412533	RCV000626804
Familial cancer of breast	Uncertain significance	rs745562998	RCV005932327
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	rs778115137, rs1595633027	RCV000855520 RCV000855523
Focal-onset seizure	Uncertain significance	rs1555412533	RCV000626804
Hammertoe	Conflicting classifications of pathogenicity	rs879253979	RCV000414974
Hepatocellular carcinoma	Uncertain significance	rs2503679487	RCV005926832
Hereditary motor neuron disease	Uncertain significance	rs1555408819	RCV000789097
Hypoplasia of the corpus callosum	Uncertain significance	rs1555411304	RCV000626806
Infantile spasms	Uncertain significance	rs1555411304	RCV000626806
Intellectual Disability, Dominant	Conflicting classifications of pathogenicity	rs770425304, rs886050371	RCV000376863 RCV000352382
Lung cancer	Likely benign; Benign	rs17512327, rs17540957, rs11850726	RCV005919266 RCV005888063 RCV005908889
Macrogyria	Uncertain significance	rs1555411304	RCV000626806
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	rs17540957, rs371934648, rs371990625, rs74874468, rs77775506, rs11850726	RCV005888062 RCV005925603 RCV005925802 RCV005893248 RCV005904358 RCV005908887
Malignant tumor of urinary bladder	Likely benign	rs368476290	RCV005924205
Melanoma	Uncertain significance; Likely benign	rs2152592111, rs2048307487, rs549895432	RCV005925496 RCV005932455 RCV005899961
Muscle weakness	Likely benign	rs139842853	RCV000414779
Myopathy	Conflicting classifications of pathogenicity; Likely benign	rs879253979, rs139842853	RCV000414974 RCV000414779
Neurodevelopmental abnormality	Uncertain significance; Likely benign	rs1057518524, rs778246294, rs2048466928	RCV001264648 RCV001264656 RCV001264617
Neurodevelopmental disorder	Uncertain significance	rs2141275840	RCV001375000
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	rs17512327, rs779109019	RCV005919264 RCV005931417
Peripheral neuropathy	Conflicting classifications of pathogenicity	rs794727634	RCV001836743
Pes cavus	Conflicting classifications of pathogenicity	rs879253979	RCV000414974
Polyneuropathy	Likely benign	rs1372571783	RCV000850301
Rhizomelic chondrodysplasia punctata type 5	Conflicting classifications of pathogenicity	rs376679623	RCV004813129
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs2141274951, rs2152596506, rs754395575, rs767868450, rs746543001, rs794727634, rs1818621543, rs1167512575	RCV003156141 RCV004584469 RCV002252818 RCV002252394 RCV002287816 RCV005889956 RCV002252336 RCV002252337
Squamous cell carcinoma of the head and neck	Uncertain significance	rs371934648	RCV005925602
Thymoma	Likely benign	rs17512327	RCV005919265
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs17512327, rs11850726	RCV005919267 RCV005908890

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anodontia	Associate	33221769
Arthrogryposis	Associate	25609763
Attention Deficit Disorder with Hyperactivity	Associate	34573389
Autism Spectrum Disorder	Associate	28325891, 34615535
Body Weight	Associate	34573389
Brain Diseases	Associate	24307404, 28325891, 37903666, 40660528
Carcinoma Hepatocellular	Associate	33411682, 35601740
CDKL5 deficiency disorder	Associate	35099838
Central Nervous System Infections	Associate	32788638
Central Nervous System Vascular Malformations	Associate	35099838
Charcot Marie Tooth Disease	Associate	22459677, 37395972
Charcot Marie Tooth disease X linked recessive 2	Associate	24307404
Chemke Oliver Mallek syndrome	Associate	36175372
Cognition Disorders	Associate	25609763
Colorectal Neoplasms	Associate	35601740
Depressive Disorder	Associate	34272765
Developmental Disabilities	Associate	29631977, 32788638, 35099838, 37903666, 40660528
Diabetes Mellitus	Associate	19175688
Disease	Associate	26100331
Drug Resistant Epilepsy	Associate	35099838, 37903666
Epilepsy	Associate	28325891, 35099838, 36175372, 37903666
Epileptic Encephalopathy Early Infantile 3	Associate	35099838, 40660528
Epileptic Syndromes	Associate	36175372
Foot Deformities	Associate	36882741
Gallbladder Neoplasms	Inhibit	24833881
Hemangioma Cavernous Central Nervous System	Associate	32788638
Heredodegenerative Disorders Nervous System	Associate	35099838
Hypoalphalipoproteinemias	Associate	32541515
Immunoglobulin G4 Related Disease	Associate	26100331
Intellectual Disability	Associate	22459677, 24307404, 26100331, 28325891, 32788638, 35099838, 40660528
Johnson Munson syndrome	Associate	25484024
Laryngeal Neoplasms	Associate	31542790
Lissencephaly	Associate	25140959, 29671837, 37903666
Lower Extremity Deformities Congenital	Associate	25609763
Lupus Erythematosus Systemic	Associate	34272765
Malformations of Cortical Development	Associate	24307404, 26100331, 32570172, 35099838, 36175372, 40660528
Malformations of Cortical Development Group II	Associate	24307404, 25484024, 25609763, 26100331
Mental Disorders	Associate	28325891
Mental Retardation Autosomal Dominant 1	Associate	25484024
Motor Neuron Disease	Associate	24307404, 26100331
Muscle Weakness	Associate	25609763
Muscular Atrophy	Associate	36332468
Muscular Atrophy Spinal	Associate	22459677, 24307404, 25484024, 25497877, 25609763, 26100331, 32788638, 36332468, 37337091, 40660528
Nasopharyngeal Carcinoma	Associate	32541515
Neoplasms	Associate	24833881
Nerve Degeneration	Associate	24307404
Nervous System Diseases	Associate	32788638
Neuromuscular Diseases	Associate	32788638, 37903666
Neuronopathy Distal Hereditary Motor Type V	Associate	37704504
Pancreatic Intraductal Neoplasms	Associate	22355676
Paraplegia	Associate	26100331
Peripheral Nervous System Diseases	Associate	32788638
Polymicrogyria	Associate	33818783
Seizures	Associate	35099838, 36175372, 37903666
Spasm	Associate	35099838
Spasms Infantile	Associate	36175372
Spinal Diseases	Associate	25484024
Spinal Muscular Atrophies of Childhood	Associate	22459677, 25609763, 36882741, 37337091, 37395972
Spondylocostal dysostosis autosomal recessive	Associate	25484024
Stomach Neoplasms	Associate	33221769
Urinary Bladder Neurogenic	Associate	25609763, 36882741

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)