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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	144132
Gene name	Dynein heavy chain domain 1
Gene symbol	DNHD1
Synonyms (NCBI Gene)	C11orf47CCDC35DHCD1DNHD1LSPGF65
Chromosome	11
Chromosome location	11p15.4

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050467	hsa-miR-22-3p	CLASH	23622248
MIRT440791	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440791	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT942229	hsa-miR-2277-3p	CLIP-seq
MIRT942230	hsa-miR-4310	CLIP-seq
MIRT942231	hsa-miR-4475	CLIP-seq
MIRT942232	hsa-miR-4504	CLIP-seq
MIRT942233	hsa-miR-542-3p	CLIP-seq
MIRT942234	hsa-miR-758	CLIP-seq
MIRT2214122	hsa-miR-3122	CLIP-seq
MIRT2214123	hsa-miR-3913-5p	CLIP-seq
MIRT2214124	hsa-miR-450b-3p	CLIP-seq
MIRT2214125	hsa-miR-4797-5p	CLIP-seq
MIRT2214126	hsa-miR-769-3p	CLIP-seq
MIRT2448464	hsa-miR-425	CLIP-seq
MIRT2448465	hsa-miR-4422	CLIP-seq
MIRT2679353	hsa-miR-25	CLIP-seq
MIRT2679354	hsa-miR-32	CLIP-seq
MIRT2679355	hsa-miR-363	CLIP-seq
MIRT2679356	hsa-miR-367	CLIP-seq
MIRT2679357	hsa-miR-4317	CLIP-seq
MIRT2679358	hsa-miR-4643	CLIP-seq
MIRT2679359	hsa-miR-466	CLIP-seq
MIRT2679360	hsa-miR-4789-3p	CLIP-seq
MIRT2679361	hsa-miR-92a	CLIP-seq
MIRT2679362	hsa-miR-92b	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005524	Function	ATP binding	IEA
GO:0005929	Component	Cilium	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IMP	34932939
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IBA
GO:0036126	Component	Sperm flagellum	IDA	34932939
GO:0036126	Component	Sperm flagellum	IEA
GO:0036156	Component	Inner dynein arm	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:0120316	Process	Sperm flagellum assembly	IMP	34932939

MIM	HGNC	e!Ensembl
617277	26532	ENSG00000179532

Q96M86

Protein name

Dynein heavy chain domain-containing protein 1 (Coiled-coil domain-containing protein 35) (Dynein heavy chain domain 1-like protein)

Protein function

Essential for the normal assembly and function of sperm flagella axonemes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08393	DHC_N2	1012 → 1466	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1649 → 1999	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2178 → 2347	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2359 → 2530		Domain
PF12780	AAA_8	2861 → 3125	P-loop containing dynein motor region D4	Domain
PF12777	MT	3179 → 3469	Microtubule-binding stalk of dynein motor	Domain
PF03028	Dynein_heavy	4083 → 4231	Dynein heavy chain region D6 P-loop domain	Domain
PF18199	Dynein_C	4407 → 4749	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level). {ECO:0000269|PubMed:34932939}.

Sequence

MVPEERRVGLSSDETSSDSLKSWHSICVLDSKEQPLACQQKQRQFVKPVTESEQPTVLEL
LLAELRTLFSAVLQDSSPAAWRYLHAVLGLLPPYRELLVGHLDLLPFLEQLYCWAPWVQT
HLHLDLLGAIVQAFPPDSSLLDSASHADCCPQKRRLHHRPPCPACPFVQAQWSRQQVKEE
LATWLRPLTLPELQRCLGIVGAQVALEEAVWLDGLSLLPLALAADIPVRYESSDTDNAEV
EPVGRKETRSQLDYEVPREKAFQKSSTGFSPETSFLDSQVMTALKMERYLKKIHFLYLNV
APSRYFRPYSLMVVPPDKVNPEHYIFSPFGILHVHPVEGSETMTLGTWHHHCVLWQQLQF
IPFFKYCLLRKSFTCWKKNVRLQGLHRLQKFLENHLLLAVPHFGAGLLHISRLLQELHSV
SWLPQELDRCYELLDLQTALAEEKHKALRLLHRCLNLCTSILRLVHEDTYHMQQCLQERV
QNCDRIRTGQGSIYLQRVQHKQLEQKLKQAEAWWLQLGKFARLVDYMICQSLISVLEEQI
TSFVANILQAPRQKPFLSSQLVFDDHGQLSHVPCVENMIQTLTGGLQSVKTSALQVVQSA
DLKTSSDSLYSEEEDEEEDSKDEFLMPKFQGQPSDAVSIFCGPNVGLVWPWKSHPIAGIL
EVRGCRLRGQYFPHNYKQLEEDLDNNPKIQQALNIQQVLLEGVLCKVQEFCREHHWITGI
YEFLQSWGPQKLEDMRGGPIKNYVTLVSRLNVWQARVSSMPIELLTKGGLLLLSCHDVQA
EMESKLNSIRKDILAHVQNECWNLSQQLMTELTDFMHIFRTINSDIHAIAQCTQKLNEAN
EQYVELEERMEYVRALHELIRNHFSLFSAENEALDISVRRQFGESPIPPCPPPPQPHLLH
CPLLAPQLLDMWEAFQFEKSQASEFLLSKRHAIMPKLQQLMAAALAELEGLLAKALSGPF
MDPTQDQRSTEHQLVSLERQFQNTVSDLSELHHAYAIFTEDETPVPLPICGTRPIVQQQR
IWHLYRVISENISEWKCMAFAKFSPAMAQEKTEGWLTEAARMSTTLELHSPVLQHCMRIL
GEFRSYLPLLTKLGSLHPQSLNCQCLLRALGLGSLQTIELLTLGQLLTYPLLEFADRINQ
VWQNENERIHAQETIRRLQRYWEARQLRLLNFILHVPYEPPASERSKRQVLRSPQWEVVD
KDSGTFILSDYSNLQDSIQESLQVLSKILAIEKSGDLNKIALEWVAIMHGLGALLEVWLT
FQQKWIFLNKVLHEMKIQFPNADLNSRFKVMDDQYRTLMRISVADPMVLSLVVPSAERSP
YFQGQQLQQLLQAGSVELEGIIMSLESVLYGVCAHFPRLFFLSDSELVALLAARLESCEA
QLWVRRCFPHVHAVSFRSCPTGEKNTDDWESSPNTQTQVEALAVLGAGGEEVKLQGPLPL
HPDLPKWLASLEKCLRLALVHMLQGCVAARLARGPSLGEALKQLPKQNKLYLQLYVQHWI
DLVQAFPWQCVLVAEEVVWRAEMEEALLEWGTLAMVSMHMRKLEVLVNFMRAQRASQGGQ
SLPSVRQTSLLSALLVMAVTHRDIAQLLEQHQVSDLTDFHWVRQLKYHLGSPHIIPKSPL
QSLKTIASSEPSLSPAACWIDVLGRSFLYNYEYLGPRLGPLPSLLPERPALVLLLALEEV
ACGTVLGPNGVGKRAIVNSLAQALGRQLVMLPCSPQIEAQCLSNYLNGALQGGAWLLLEK
VHQLPPGLLSALGQRLGELHHLYAPLYQEASRNTSTIDPTQPQLLGSSFFEKHHVSVRLG
YGCLLVLRALSSAVPANLHLLLRPVALALPDLRQVAELTLLGAGMRDAFQMATRLSKFFS
LERELVSGPLPCRLPLLKQILEDTIRTLNVTKEEPKCQKPRSLAAIEEAALLRSPLFSIL
NGLHLHNLRGLLCALFPSASQVLAEPMTYKLMKPLVVEELQQVGLDPSPDILGSLEQLSQ
ALSRASGILLLGPAGSGKTTCWHSLFKIQNRLAAMEDTSTQGCQPVEITHLYPSGLSPQE
FLGWLEGSCWHHGIFPKVLRAAGQCNNMGQKRQTEESIGIQHWIICDGASNGAWLDSITC
LLSELPQLSLPSGQQIARPPGTFLLMEVADTTGISPTVVGCCALVWCGGEQTWQCILSAL
MASLPYEYRLQHRTVAELNHMAEVLVPATLRFLTCQGVSSLLQVHGQQAVCAGVAEVTSM
ARILHSLLDLHLRLKEEKAPGPEDLSYSDPVAQSFRSSKSSFLNRSQVDSDDVPDKCREH
LLAVSSFLFALIWGFGAHLPSRFWPIFDTFIRDSISRLSNYPEPPPSALVFDLHVSPEDG
TLVPFTGQYLSSHIKGTLGTFHPSIQTERLLYVVDLLLSGGQPVLLAGEAATGKSAFVEV
LVEPHHPYIYSPIHPAFSSSHLRLLLSRGIQGQTQASPQPGHHQDSKPSLLFLLEDLHLA
TSDPEKSCQPVLETLRQAMDGTVYAHSTLELQTLQPTVNFLATVTVPGYCERPLCPRLFR
LFTVLALESMTQATLLERHVPIIQAWLERFPSVERERALARGLVRASVEAWEAVCNCFMP
SPLHPHYHFSLHSVSHLLSSLQLLPNRTGSRGFVDYPNHQEHLRRVSGLRGTCLTVMMAT
RNVVRLWLHEAQRTFCDRLDSPRERSYCAKLLLVVAQSVFCCGPGPQHLGKDHQESEEEE
EEERVPEVESEGELAQWEDFSNSNSETEEEEEPYGLQVARVSNSRDPSLTPSIGPVSRGM
KESISHKIRQEKGTRASNYRLQVRRSFKTWWQKKPQMDLISPLLLPVLLLHPQEKPSDLV
FSQELILGPNSETPNLYLERQWEKLEEQLATSAAQLKLSPHLARCHSMAQHVARLVRVLA
RPRQHGLLLSGALGTGRHTAITLASSICQAHFFHLPSGSEEAILQCLRDASWHAGMLSQP
VALLVPSGVDLTTLHRLLALATSGSFPGQYTEADLDRIGEHLPRENLGVKQNIKKEMVLQ
RFHQQVCSHLHLFFLIGDKQAHKQLPSTLFLRLLQLATASIDRYEPWDQAALAKVAQHHL
EGAQSVPLDDGSWKYPDLQASIPSVAKAMALIHLSATHYHEHLCPALPLVTPKTFLDFLD
TFLMLQQQTILKIKNKAQRVQNALENLRMLIKEHGTHANLIFDLEQQLKDSGKSLSMFQQ
QLEQSKLLYKQQLEECRHQENLIENLARQRDALQAQREAFLEQMSKAFLEPLSQLQVADF
EEIRSYRAPPESVVRVTDAMCDLFHHETGWASAKQLLCTEDFYQELVFFPKEKITDSELI
KLHLILKAPGMDDAALRAVSRPAASLAAWLWAVLHYGLAHCRGLPTDLLLQQVEATLTRE
QARLGYYQFQAQETLEHNLALAKMVEDAQASHNCVAKTLSQAQCGQYHKWPMKAALLTPM
RAWTTQLQKLKGRCMTVFGDTLLCSAAIIYLGPFPPLRRQELLDEWLALCRGFQEALGPD
DVAQALKRKQKSVSIPPKNPLLATHSPFSILSLLSSESEQYQWDGNLKPQAKSAHLAGLL
LRSPTHYSSCRWPLLLDPSNEALIWLDPLPLEENRSFAPALTEGRGKGLMRNQKRESKTD
MKEEDDESEESNEAEDQTKEQKAEERKNEQEKEQEENEEKEEEKTESQGSKPAYETQLPS
LPYLSVLSGADPELGSQLQEAAACGLPVLLTNVELGLGCEELQWLLQREQLSPPQVQPGF
CLYLSTTLSLCAMEKVLGCELLKGLNVLDLGLNMEILEEQMLHEILCREYPELETRWQDL
KIRALDTCKAVEAAEERLLTMLLFQNPKRQKPAKFLRNIVRAQGKLCQLRAHCEELEGQK
LQEMVLWAPYRPVVWHGMAMVKALSQLQNLLPLFCMSPENWLAVTKQALDSMKPREINHG
EDLASHLLQLRAHLTRQLLGSTVTALGLTQVPLVGALGALALLQATGKASELERLALWPG
LAASPSTVHSKPVSDVARPAWLGPKAWHECEMLELLPPFVGLCASLAGHSSAWQAYLSLS
STVLGPAPGPGPEPLSLLQKLILWRVLRPECLAGALADFTTSLLGRPLDENTYAPTMPFK
HSQATQPMLILLPPPGHPSATLHPLTVIQKLAAKYQQGQKQLQVIALGSEAWDPVSVVVS
TLSQAMYEGHWLVLDNCHLMPHWPKELLQLLLELLGRAKVVADLESEQLLDQPESRNVST
VHRDFRLWLIVPAESSASLPAVLTQHSMPVFWNQSLELGHVLIDSVELAQQVLYMQPPTQ
ALPLLLLHGLLLHRQLYGTRLQAHRGRWSQVTLTQVLQTQDQLWASLSNPRAAMQELAAS
VFYGGPLGDTEDREALISLTQACLSPSSGSWVQPHTPQSLLATLMPLPELRELDAMAECK
AQMHLLPSPPEPRLCGLSEGPQAWLLRRQSRALLSALQRSSPVWVPESRRGAQLAERRLR
QRLVQVNRRLESLQDLLTHVIRQDESDAPWSVLGPNARRPLEGVLETEALELSQLVGTLQ
RDLDCLLQQLKGAPPCPSRRCAAVAHALWTGRLPLPWRPHAPAGPQPPWHWLRQLSRRGQ
LLVRYLGVGADASSDVPERVFHLSAFRHPRRLLLALRGEAALDQNVPSSNFPGSRGSVSS
QLQYKRLEMNSNPLHFRVENGPNPTVPERGLLLIGLQVLHAEWDPIAGALQDSPSSQPSP
LPPVSISTQAPGTSDLPAPADLTVYSCPVYMGGPLGTAKLQSRNIVMHLPLPTKLTPNTC
VQRRVHVCSPPLS

Sequence length

4753

Interactions

View interactions

193

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 65	Likely pathogenic; Pathogenic	rs1035842147, rs61729699, rs199752008, rs187626415, rs756886777, rs369544858, rs764070280, rs1386324073, rs2134462764, rs201118703, rs760673520, rs762515987, rs1003144542	RCV001814632 RCV001814633 RCV001814634 RCV001814635 RCV001814636 RCV001814637 RCV002260505 RCV002260507 RCV002260508 RCV004763479 RCV003146666 RCV003148466 RCV003989227

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Uncertain significance	rs139730836	RCV005932354
Clear cell carcinoma of kidney	Likely benign	rs192678564	RCV005905276
DNHD1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs4633449, rs11606889, rs4282961, rs4758423, rs2344828, rs7480644, rs117939157, rs185616789, rs759052984, rs187920205, rs553244185, rs369567075, rs200845640, rs11825154, rs16914748 View all (118 more)	RCV003980674 RCV003980675 RCV003980854 RCV003975941 RCV003976025 RCV003976051 RCV003926330 RCV003960971 RCV003953906 RCV003906578 RCV003393065 RCV003906730 RCV003966352 RCV003919638 RCV003919816 RCV003929662 RCV003917305 RCV003974399 RCV003974103 RCV003979572 RCV003967407 RCV003979822 RCV003984701 RCV003984776 RCV003982443 RCV003914219 RCV003916853 RCV003964390 RCV003979383 RCV003973980 RCV003973989 RCV003973990 RCV003967339 RCV003977246 RCV003911501 RCV003909840 RCV003939863 RCV003937321 RCV003952047 RCV003947326 RCV003959781 RCV003963913 RCV003964008 RCV003972013 RCV003981234 RCV003919557 RCV003931675 RCV003941650 RCV003939451 RCV003951652 RCV003951842 RCV003961492 RCV003914303 RCV003931379 RCV003917395 RCV003939368 RCV003936945 RCV003951401 RCV003922047 RCV003922205 RCV003946765 RCV003944645 RCV003979054 RCV003979081 RCV003979108 RCV003976943 RCV003947252 RCV003976568 RCV003978911 RCV003976391 RCV003976471 RCV003976492 RCV003938145 RCV003928263 RCV003975347 RCV003928318 RCV003925908 RCV003925963 RCV003960677 RCV003978270 RCV003903266 RCV003903202 RCV003926003 RCV003978207 RCV003935816 RCV003960678 RCV003903195 RCV003916151 RCV003936098 RCV003983805 RCV003962884 RCV003943179 RCV003905846 RCV003943180 RCV003918521 RCV003935925 RCV003936140 RCV003953323 RCV003897953 RCV003928582 RCV003910624 RCV003930763 RCV003930717 RCV003910597 RCV003910381 RCV003930469 RCV003950389 RCV003967981 RCV003922828 RCV003922982 RCV003922857 RCV003950562 RCV003910786 RCV003958092 RCV003940815 RCV003968210 RCV003932944 RCV003968315 RCV003932893 RCV003968211 RCV003958030 RCV003968224 RCV003932833 RCV003950766 RCV003913022 RCV003970464 RCV003933015 RCV003902918 RCV003960534 RCV003925813 RCV003903297 RCV003935921 RCV003392722 RCV003906148
DNHD1-related Intellectual Disability	Uncertain significance	rs886468000, rs372799484	RCV004799469 RCV004799470
DNHD1-related Neurodevelopmental Disorder	Uncertain significance	rs537369418, rs199873868	RCV001839354 RCV001839355
Essential tremor	Likely benign	rs180918289	RCV001543348
Familial cancer of breast	Likely benign	rs192678564	RCV005905273
Gastric cancer	Uncertain significance	rs139730836	RCV005932355
Hepatocellular carcinoma	Likely benign	rs192678564	RCV005905274
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	rs759052984, rs750156561	RCV004017961 RCV004017963
Malignant lymphoma, large B-cell, diffuse	Benign	rs11603869	RCV005935542
Malignant tumor of esophagus	Likely benign	rs192678564, rs149040105	RCV005905275 RCV005907543
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs180925806	RCV005926515
Papillary renal cell carcinoma type 1	Likely benign	rs149040105	RCV005907542
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs763743788, rs201400447	RCV001198253 RCV001198254
Squamous cell carcinoma of the head and neck	Benign	rs11603869	RCV005935541
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs139730836	RCV005932356
Uterine carcinosarcoma	Benign	rs11603869	RCV005935543
Uterine corpus endometrial carcinoma	Uncertain significance	rs139730836	RCV005932357

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Squamous Cell	Associate	28099906
Congenital Abnormalities	Associate	36768883
Pancreatic Neoplasms	Associate	28099906

DNHD1 (dynein heavy chain domain 1)