DNAH1 (dynein axonemal heavy chain 1)

Gene

• Entrez ID: 25981
• Gene name: Dynein axonemal heavy chain 1
• Gene symbol: DNAH1
• Synonyms (NCBI Gene): CILD37, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, SPGF18, XLHSRF-1
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple mo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76591348	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs140883175	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200416242	C>A,T	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs544674332	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs557979163	->GG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs746049858	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs753307279	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs759646845	AGAG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs759727960	C>T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs762545991	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs765417610	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs766323732	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs767196276	G>A,C	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs779490893	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1131692234	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131692250	G>A,C	Pathogenic	Splice acceptor variant
rs1131692251	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1297408310	TAAC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003777	Function	Microtubule motor activity	NAS	9373155
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	NAS	9373155
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IMP	24360805
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	24360805
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	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	24360805
GO:0030317	Process	Flagellated sperm motility	IMP	27798045
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IBA
GO:0036126	Component	Sperm flagellum	IDA	11371505, 24360805
GO:0036126	Component	Sperm flagellum	IEA
GO:0036156	Component	Inner dynein arm	IDA	24360805
GO:0036156	Component	Inner dynein arm	IEA
GO:0036159	Process	Inner dynein arm assembly	IDA	24360805
GO:0036159	Process	Inner dynein arm assembly	IEA
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:0060285	Process	Cilium-dependent cell motility	NAS	9373155
GO:0060294	Process	Cilium movement involved in cell motility	IEA

Other IDs

• MIM: 603332
• HGNC: 2940
• e!Ensembl: ENSG00000114841

Protein

• UniProt ID: Q9P2D7
• Protein name: Dynein axonemal heavy chain 1 (Axonemal beta dynein heavy chain 1) (Ciliary dynein heavy chain 1) (Heat shock regulated protein 1) (HSRF-1) (hDHC7)
• Protein function: Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in sperm
• PDB: 8I3J, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08393	DHC_N2	1013 → 1416	Dynein heavy chain, N-terminal region 2	Family
  PF12774	AAA_6	1543 → 1869	Hydrolytic ATP binding site of dynein motor region	Domain
  PF17852	Dynein_AAA_lid	2037 → 2183	Dynein heavy chain AAA lid domain	Domain
  PF12775	AAA_7	2188 → 2369		Domain
  PF17857	AAA_lid_1	2412 → 2507	AAA+ lid domain	Domain
  PF12780	AAA_8	2556 → 2817	P-loop containing dynein motor region D4	Domain
  PF12777	MT	2830 → 3180	Microtubule-binding stalk of dynein motor	Domain
  PF12781	AAA_9	3204 → 3425	ATP-binding dynein motor region	Domain
  PF03028	Dynein_heavy	3668 → 3782	Dynein heavy chain region D6 P-loop domain	Domain
  PF18198	AAA_lid_11	3796 → 3953	Dynein heavy chain AAA lid domain	Domain
  PF18199	Dynein_C	3959 → 4261	Dynein heavy chain C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain (PubMed:11175280). {ECO:0000269|PubMed:11175280, ECO:0000269|PubMed:24360805, ECO:0000269|PubMed:9256245}.
• Sequence:

  MEQPNSKGYSLGRTPQGPECSSAPAVQVGTHRGLEYNPGKILPGSDYGLGNPPALDPKLP
  HLPLPPAPPTLSDLGQPRKSPLTGTDKKYPLMKQRGFYSDILSPGTLDQLGEVCRGPRMS
  QNLLRQADLDKFTPRVGSFEVPEDFQERMEQQCIGSTTRLLAQTDFPLQAYEPKMQVPFQ
  VLPGQHPRKIEIERRKQQYLSLDIEQLLFSQGIDSNKLMPRHLDHQHPQTIEQGHDPIFP
  IYLPLKVFDNEDFDCRTPREWINMGLEPGSLDRKPVPGKALLPTDDFLGHEDPKSQKLKY
  KWCEVGVLDYDEEKKLYLVHKTDEKGLVRDEMGRPILNAGVTTEGRPPLQVCQYWVPRIQ
  LLFCAEDPCMFAQRVVQANALRKNTEALLLYNLYVDCMPSDGQHVISEQSLSKIKQWALS
  TPRMRKGPSVLEHLSSLAREVSLDYERSMNKINFDHVVSSKPETFSYVTLPKKEEEQVPE
  RGLVSVPKYHFWEQKEDFTFVSLLTRPEVITALSKVRAECNKVTAMSLFHSSLSKYSHLE
  EFEQIQSQTFSQVQMFLKDSWISSLKVAMRSSLRDMSKGWYNLYETNWEVYLMSKLRKLM
  ELVKYMLQDTLRFLVQDSLASFSQFISDTCCSVLNCTDDMVWGDDLINSPYRPRKNPLFI
  MDLVLDSSGVHYSTPLEQFEASLLNLFDKGILATHAVPQLEKLVMEDIFISGDPLLESVG
  LHEPLVEELRATIASAVSKAMIPLQAYAKEYRKYLELNNNDIASFLKTYQTQGLLAQEVR
  EVVLTHLREKEILDSSLPSSIIIGPFYINTDNVKQSLSKKRKALATSVLDILAKNLHKEV
  DSICEEFRSISRKIYEKPNSIEELAELREWMKGIPERLVGLEERIVKVMDDYQVMDEFLY
  NLSSDDFNDKWIASNWPSKILGQIELVQQQHVEDEEKFRKIQIMDQNNFQEKLEGLQLVV
  AGFSIHVEISRAHEIANEVRRVKKQLKDCQQLAMLYNNRERIFSLPITNYDKLSRMVKEF
  QPYLDLWTTASDWLRWSESWMNDPLSAIDAEQLEKNVVEAFKTMHKCVKQFKDMPACQEV
  ALDIRARIEEFKPYIPLIQGLRNPGMRIRHWETLSNQININVRPKANLTFARCLEMNLQD
  HIESISKVAEVAGKEYAIEQALDKMEKEWSTILFNVLPYKATDTYILKSPDEASQLLDDH
  IVMTQNMSFSPYKKPFEQRINSWENKLKLTQEVLEEWLNCQRSWLYLEPIFSSEDINQQL
  PVESKRYQTMERIWKKIMKNAYENREVINVCSDLRMLDSLRDCNKILDLVQKGLSEYLET
  KRSAFPRFYFLSDDELLEILSQTKDPTAVQPHLRKCFENIARLLFQEDLEITHMYSAEGE
  EVQLCFSIYPSSNVEDWLREVERSMKASVHDIIEKAIRAYPTMPRTQWVLNWPGQVTIAG
  CQTYWTMEVAEALEAGNLRSQLFPQLCQQLSDLVALVRGKLSRMQRAVLSALIVIEVHAK
  DVVSKLIQENVVSVNDFQWISQLRYYWTNNDLYIRAVNAEFIYGYEYLGNSGRLVITPLT
  DRCYLTLTGALHLKFGGAPAGPAGTGKTETTKDLGKALAIQTVVFNCSDQLDFMAMGKFF
  KGLASAGAWACFDEFNRIDIEVLSVVAQQITTIQKAQQQRVERFMFEGVEIPLVPSCAVF
  ITMNPGYAGRTELPDNLKALFRPVAMMVPDYAMITEISLYSFGFNEASVLAKKITTTFKL
  SSEQLSSQDHYDFGMRAVKTVISAAGNLKRENPSMNEELICLRAIRDVNVPKFLQEDLKL
  FSGIVSDLFPTIKEEDTDYGILDEAIREACRNSNLKDVEGFLTKCIQLYETTVVRHGLML
  VGPTGSGKSTCYRVLAAAMTSLKGQPSISGGMYEAVNYYVLNPKSITMGQLYGEFDLLTH
  EWTDGIFSSFIRAGAITSDTNKKWYMFDGPVDAIWIENMNTVLDDNKKLCLSSGEIIKLT
  EAMTMMFEVQDLAVASPATVSRCGMVYLEPSILGLMPFIECWLRKLPPLLKPYEEHFKAL
  FVSFLEESISFVRSSVKEVIASTNCNLTMSLLKLLDCFFKPFLPREGLKKIPSEKLSRIV
  ELIEPWFIFSLIWSVGATGDSSGRTSFSHWLRLKMENEQLTLLFPEEGLVFDYRLEDAGI
  SGTNDSEDEEEEYKQVAWVKWMDSSAPFTMVPDTNYCNIIVPTMDTVQMSHLLDMLLTNK
  KPVLCIGPTGTGKTLTISDKLLKNLALDYISHFLTFSARTSANQTQDFIDSKLDKRRKGV
  FGPPLGRNFIFFIDDLNMPALETYGAQPPIELLRQWMDHGGWYDRKIIGAFKNLVDINFV
  CAMGPPGGGRNTVTPRLMRHFNYLSFAEMDEVSKKRIFSTILGNWLDGLLGEKSYRERVP
  GAPHIAHFTEPLVEATIMVYATITSQLLPTPAKSHYTFNLRDLSKVFQGMLMADPAKVED
  QVQLLRLWYHENCRVFRDRLVNEEDRSWFDQLLKRCMEQWEVTFNKVCPFQPILYGDFMS
  PGSDVKSYELITSESKMMQVIEEYIEDYNQINTAKLKLVLFMDAMSHICRISRTLRQALG
  NALLLGVGGSGRSSLTRLASHMAEYECFQIELSKNYGMSEWRDDVKKVLLKAGLQNLPIT
  FLFSDTQIKNESFLEDINNVLNSGDIPNLYTADEQDQIVSTMRPYIQEQGLQPTKANLMA
  AYTGRVRSNIHMVLCMSPIGEVFRARLRQFPSLVNCCTIDWFNEWPAEALKSVATVFLNE
  IPELESSQEEIQGLIQVCVYIHQSVSKKCIEYLAELTRHNYVTPKSYLELLHIFSILIGQ
  KKLELKTAKNRMKSGLDKLLRTSEDVAKMQEDLESMHPLLEEAAKDTMLTMEQIKVDTAI
  AEETRNSVQTEEIKANEKAKKAQAIADDAQKDLDEALPALDAALASLRNLNKNDVTEVRA
  MQRPPPGVKLVIEAVCIMKGIKPKKVPGEKPGTKVDDYWEPGKGLLQDPGHFLESLFKFD
  KDNIGDVVIKAIQPYIDNEEFQPATIAKVSKACTSICQWVRAMHKYHFVAKAVEPKRQAL
  LEAQDDLGVTQRILDEAKQRLREVEDGIATMQAKYRECITKKEELELKCEQCEQRLGRAG
  KLINGLSDEKVRWQETVENLQYMLNNISGDVLVAAGFVAYLGPFTGQYRTVLYDSWVKQL
  RSHNVPHTSEPTLIGTLGNPVKIRSWQIAGLPNDTLSVENGVINQFSQRWTHFIDPQSQA
  NKWIKNMEKDNGLDVFKLSDRDFLRSMENAIRFGKPCLLENVGEELDPALEPVLLKQTYK
  QQGNTVLKLGDTVIPYHEDFRMYITTKLPNPHYTPEISTKLTLINFTLSPSGLEDQLLGQ
  VVAEERPDLEEAKNQLIISNAKMRQELKDIEDQILYRLSSSEGNPVDDMELIKVLEASKM
  KAAEIQAKVRIAEQTEKDIDLTRMEYIPVAIRTQILFFCVSDLANVDPMYQYSLEWFLNI
  FLSGIANSERADNLKKRISNINRYLTYSLYSNVCRSLFEKHKLMFAFLLCVRIMMNEGKI
  NQSEWRYLLSGGSISIMTENPAPDWLSDRAWRDILALSNLPTFSSFSSDFVKHLSEFRVI
  FDSLEPHREPLPGIWDQYLDQFQKLLVLRCLRGDKVTNAMQDFVATNLEPRFIEPQTANL
  SVVFKDSNSTTPLIFVLSPGTDPAADLYKFAEEMKFSKKLSAISLGQGQGPRAEAMMRSS
  IERGKWVFFQNCHLAPSWMPALERLIEHINPDKVHRDFRLWLTSLPSNKFPVSILQNGSK
  MTIEPPRGVRANLLKSYSSLGEDFLNSCHKVMEFKSLLLSLCLFHGNALERHKFGPLGFN
  IPYEFTDGDLRICISQLKMFLDEYDDIPYKVLKYTAGEINYGGRVTDDWDRRCIMNILED
  FYNPDVLSPEHSYSASGIYHQIPPTYDLHGYLSYIKSLPLNDMPEIFGLHDNANITFAQN
  ETFALLGTIIQLQPKSSSAGSQGREEIVEDVTQNILLKVPEPINLQWVMAKYPVLYEESM
  NTVLVQEVIRYNRLLQVITQTLQDLLKALKGLVVMSSQLELMAASLYNNTVPELWSAKAY
  PSLKPLSSWVMDLLQRLDFLQAWIQDGIPAVFWISGFFFPQAFLTGTLQNFARKFVISID
  TISFDFKVMFEAPSELTQRPQVGCYIHGLFLEGARWDPEAFQLAESQPKELYTEMAVIWL
  LPTPNRKAQDQDFYLCPIYKTLTRAGTLSTTGHSTNYVIAVEIPTHQPQRHWIKRGVALI
  CALDY

• Sequence length: 4265

Pathways

KEGG:

Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Ciliary dyskinesia	primary ciliary dyskinesia, ciliary dyskinesia, primary, 37	rs779490893, rs746049858, rs544674332, rs1704217868, rs1704650728	N/A
Non-Syndromic Male Infertility Due To Sperm Motility Disorder	non-syndromic male infertility due to sperm motility disorder	rs753307279	N/A
Spermatogenic Failure	spermatogenic failure 18	rs1131692251, rs779490893, rs746049858, rs759646845, rs759727960, rs1131692234, rs1131692250	N/A
Kartagener Syndrome	kartagener syndrome	rs544674332	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Multiple	Associate	28577616, 36510862
Asthenozoospermia	Associate	28577616, 30544445
Azoospermia	Associate	30544445
Azoospermia Nonobstructive	Associate	36017582
Bronchiolitis Obliterans	Associate	33577779
Ciliary Motility Disorders	Associate	24360805, 33577779, 37998386
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	30122541, 37302001
Fibrous Dysplasia of Bone	Associate	28577616
Infertility	Associate	24360805, 28577616, 36510862, 36896575
Infertility Male	Associate	24360805, 30544445, 35017386, 36896575, 37302001
Ocular Motility Disorders	Associate	34089056