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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1778
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein cytoplasmic 1 heavy chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DYNC1H1
Synonyms (NCBI Gene) Gene synonyms aliases	CDCBM13, CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q32.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease axonal type 2O	rs1327664377, rs1595597572, rs397509411, rs1057518083, rs797044901, rs2047850664, rs1057518961, rs1567019064, rs1595597963, rs1595608413, rs397509412, rs797044918, rs373682811, rs1595599240, rs1064796765 View all (10 more)	N/A
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs387906738	N/A
Distal Hereditary Motor Neuronopathy	Neuronopathy, distal hereditary motor, autosomal dominant	rs1595599240, rs879254085, rs1595600898, rs1555408333	N/A
Lissencephaly	lissencephaly	rs797045178, rs797045529, rs397509412, rs1064796765, rs797045177, rs757725348	N/A
Mental retardation	intellectual disability, Intellectual disability, autosomal dominant 13	rs797044901, rs1555411394, rs2047850664, rs797045529, rs397509412, rs1047509819, rs1057518961, rs797044918, rs869312693, rs1064796765, rs1595629181, rs797045177, rs1595609005, rs1555409836, rs1555411305 View all (3 more)	N/A
Spinal Muscular Atrophy	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, spinal muscular atrophy	rs727505393, rs1057518083, rs1595599240, rs863223361, rs879254085, rs587780564, rs387906738, rs713993043	N/A
hereditary motor and sensory neuropathy	Hereditary motor and sensory neuropathy	rs587780564	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
autism spectrum disorder	Autism spectrum disorder	N/A	N/A	ClinVar
Cerebellar Ataxia	Autosomal dominant cerebellar ataxia	N/A	N/A	ClinVar
Distal Spinal Muscular Atrophy	distal spinal muscular atrophy	N/A	N/A	ClinVar
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	N/A	N/A	GenCC
Peripheral Neuropathy	peripheral neuropathy	N/A	N/A	ClinVar
Polyneuropathy	polyneuropathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)