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Gene id 25981
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol DNAH1   Gene   UCSC   Ensembl
Aliases CILD37, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, SPGF18, XLHSRF-1
Gene name dynein axonemal heavy chain 1
Alternate names dynein heavy chain 1, axonemal, axonemal beta dynein heavy chain 1, ciliary dynein heavy chain 1, dynein, axonemal, heavy polypeptide 1, heat shock regulated protein 1, testicular tissue protein Li 60,
Gene location 3p21.1 (52313009: 52400496)     Exons: 81     NC_000003.12
Gene summary(Entrez) 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
OMIM 603332

SNPs
rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

Protein Summary
Protein general information Q9P2D7  

Name: Dynein heavy chain 1, axonemal (Axonemal beta dynein heavy chain 1) (Ciliary dynein heavy chain 1) (Heat shock regulated protein 1) (HSRF 1) (hDHC7)

Length: 4330  Mass: 493,953

Sequence MEQPNSKGYSLGRTPQGPECSSAPAVQVGTHRGLEYNPGKILPGSDYGLGNPPALDPKLPHLPLPPAPPTLSDLG
QPRKSPLTGTDKKYPLMKQRGFYSDILSPGTLDQLGEVCRGPRMSQNLLRQADLDKFTPRVGSFEVPEDFQERME
QQCIGSTTRLLAQTDFPLQAYEPKMQVPFQVLPGQHPRKIEIERRKQQYLSLDIEQLLFSQGIDSNKLMPRHLDH
QHPQTIEQGHDPIFPIYLPLKVFDNEDFDCRTPREWINMGLEPGSLDRKPVPGKALLPTDDFLGHEDPKSQKLKY
KWCEVGVLDYDEEKKLYLVHKTDEKGLVRDEMGRPILNAGVTTEGRPPLQVCQYWVPRIQLLFCAEDPCMFAQRV
VQANALRKNTEALLLYNLYVDCMPSDGQHVISEQSLSKIKQWALSTPRMRKGPSVLEHLSSLAREVSLDYERSMN
KINFDHVVSSKPETFSYVTLPKKEEEQVPERGLVSVPKYHFWEQKEDFTFVSLLTRPEVITALSKVRAECNKVTA
MSLFHSSLSKYSHLEEFEQIQSQTFSQVQMFLKDSWISSLKVAMRSSLRDMSKGWYNLYETNWEVYLMSKLRKLM
ELVKYMLQDTLRFLVQDSLASFSQFISDTCCSVLNCTDDMVWGDDLINSPYRPRKNPLFIMDLVLDSSGVHYSTP
LEQFEASLLNLFDKGILATHAVPQLEKLVMEDIFISGDPLLESVGLHEPLVEELRATIASAVSKAMIPLQAYAKE
YRKYLELNNNDIASFLKTYQTQGLLAQEVREVVLTHLREKEILDSSLPSSIIIGPFYINTDNVKQSLSKKRKALA
TSVLDILAKNLHKEVDSICEEFRSISRKIYEKPNSIEELAELREWMKGIPERLVGLEERIVKVMDDYQVMDEFLY
NLSSDDFNDKWIASNWPSKILGQIELVQQQHVEDEEKFRKIQIMDQNNFQEKLEGLQLVVAGFSIHVEISRAHEI
ANEVRRVKKQLKDCQQLAMLYNNRERIFSLPITNYDKLSRMVKEFQPYLDLWTTASDWLRWSESWMNDPLSAIDA
EQLEKNVVEAFKTMHKCVKQFKDMPACQEVALDIRARIEEFKPYIPLIQGLRNPGMRIRHWETLSNQININVRPK
ANLTFARCLEMNLQDHIESISKVAEVAGKEYAIEQALDKMEKEWSTILFNVLPYKATDTYILKSPDEASQLLDDH
IVMTQNMSFSPYKKPFEQRINSWENKLKLTQEVLEEWLNCQRSWLYLEPIFSSEDINQQLPVESKRYQTMERIWK
KIMKNAYENREVINVCSDLRMLDSLRDCNKILDLVQKGLSEYLETKRSAFPRFYFLSDDELLEILSQTKDPTAVQ
PHLRKCFENIARLLFQEDLEITHMYSAEGEEVQLCFSIYPSSNVEDWLREVERSMKASVHDIIEKAIRAYPTMPR
TQWVLNWPGQVTIAGCQTYWTMEVAEALEAGNLRSQLFPQLCQQLSDLVALVRGKLSRMQRAVLSALIVIEVHAK
DVVSKLIQENVVSVNDFQWISQLRYYWTNNDLYIRAVNAEFIYGYEYLGNSGRLVITPLTDRCYLTLTGALHLKF
GGAPAGPAGTGKTETTKDLGKALAIQTVVFNCSDQLDFMAMGKFFKGLASAGAWACFDEFNRIDIEVLSVVAQQI
TTIQKAQQQRVERFMFEGVEIPLVPSCAVFITMNPGYAGRTELPDNLKALFRPVAMMVPDYAMITEISLYSFGFN
EASVLAKKITTTFKLSSEQLSSQDHYDFGMRAVKTVISAAGNLKRENPSMNEELICLRAIRDVNVPKFLQEDLKL
FSGIVSDLFPTIKEEDTDYGILDEAIREACRNSNLKDVEGFLTKCIQLYETTVVRHGLMLVGPTGSGKSTCYRVL
AAAMTSLKGQPSISGGMYEAVNYYVLNPKSITMGQLYGEFDLLTHEWTDGIFSSFIRAGAITSDTNKKWYMFDGP
VDAIWIENMNTVLDDNKKLCLSSGEIIKLTEAMTMMFEVQDLAVASPATVSRCGMVYLEPSILGLMPFIECWLRK
LPPLLKPYEEHFKALFVSFLEESISFVRSSVKEVIASTNCNLTMSLLKLLDCFFKPFLPREGLKKIPSEKLSRIV
ELIEPWFIFSLIWSVGATGDSSGRTSFSHWLRLKMENEQLTLLFPEEGLVFDYRLEDAGISGTNDSEDEEEEYKQ
VAWVKWMDSSAPFTMVPDTNYCNIIVPTMDTVQMSHLLDMLLTNKKPVLCIGPTGTGKTLTISDKLLKNLALDYI
SHFLTFSARTSANQTQDFIDSKLDKRRKGVFGPPLGRNFIFFIDDLNMPALETYGAQPPIELLRQWMDHGGWYDR
KIIGAFKNLVDINFVCAMGPPGGGRNTVTPRLMRHFNYLSFAEMDEVSKKRIFSTILGNWLDGLLGEKSYRERVP
GAPHIAHFTEPLVEATIMVYATITSQLLPTPAKSHYTFNLRDLSKVFQGMLMADPAKVEDQVQLLRLWYHENCRV
FRDRLVNEEDRSWFDQLLKRCMEQWEVTFNKVCPFQPILYGDFMSPGSDVKSYELITSESKMMQVIEEYIEDYNQ
INTAKLKLVLFMDAMSHICRISRTLRQALGNALLLGVGGSGRSSLTRLASHMAEYECFQIELSKNYGMSEWRDDV
KKVLLKAGLQNLPITFLFSDTQIKNESFLEDINNVLNSGDIPNLYTADEQDQIVSTMRPYIQEQGLQPTKANLMA
AYTGRVRSNIHMVLCMSPIGEVFRARLRQFPSLVNCCTIDWFNEWPAEALKSVATVFLNEIPELESSQEEIQGLI
QVCVYIHQSVSKKCIEYLAELTRHNYVTPKSYLELLHIFSILIGQKKLELKTAKNRMKSGLDKLLRTSEDVAKMQ
EDLESMHPLLEEAAKDTMLTMEQIKVDTAIAEETRNSVQTEEIKANEKAKKAQAIADDAQKDLDEALPALDAALA
SLRNLNKNDVTEVRAMQRPPPGVKLVIEAVCIMKGIKPKKVPGEKPGTKVDDYWEPGKGLLQDPGHFLESLFKFD
KDNIGDVVIKAIQPYIDNEEFQPATIAKVSKACTSICQWVRAMHKYHFVAKAVEPKRQALLEAQDDLGVTQRILD
EAKQRLREVEDGIATMQAKYRECITKKEELELKCEQCEQRLGRAGKVRTLLLQGLQAGPAQTGARKDQGAGGSWG
GCPHPLPGNPGATVGRASPRPLAQPPRAHPTGLPLQLINGLSDEKVRWQETVENLQYMLNNISGDVLVAAGFVAY
LGPFTGQYRTVLYDSWVKQLRSHNVPHTSEPTLIGTLGNPVKIRSWQIAGLPNDTLSVENGVINQFSQRWTHFID
PQSQANKWIKNMEKDNGLDVFKLSDRDFLRSMENAIRFGKPCLLENVGEELDPALEPVLLKQTYKQQGNTVLKLG
DTVIPYHEDFRMYITTKLPNPHYTPEISTKLTLINFTLSPSGLEDQLLGQVVAEERPDLEEAKNQLIISNAKMRQ
ELKDIEDQILYRLSSSEGNPVDDMELIKVLEASKMKAAEIQAKVRIAEQTEKDIDLTRMEYIPVAIRTQILFFCV
SDLANVDPMYQYSLEWFLNIFLSGIANSERADNLKKRISNINRYLTYSLYSNVCRSLFEKHKLMFAFLLCVRIMM
NEGKINQSEWRYLLSGGSISIMTENPAPDWLSDRAWRDILALSNLPTFSSFSSDFVKHLSEFRVIFDSLEPHREP
LPGIWDQYLDQFQKLLVLRCLRGDKVTNAMQDFVATNLEPRFIEPQTANLSVVFKDSNSTTPLIFVLSPGTDPAA
DLYKFAEEMKFSKKLSAISLGQGQGPRAEAMMRSSIERGKWVFFQNCHLAPSWMPALERLIEHINPDKVHRDFRL
WLTSLPSNKFPVSILQNGSKMTIEPPRGVRANLLKSYSSLGEDFLNSCHKVMEFKSLLLSLCLFHGNALERHKFG
PLGFNIPYEFTDGDLRICISQLKMFLDEYDDIPYKVLKYTAGEINYGGRVTDDWDRRCIMNILEDFYNPDVLSPE
HSYSASGIYHQIPPTYDLHGYLSYIKSLPLNDMPEIFGLHDNANITFAQNETFALLGTIIQLQPKSSSAGSQGRE
EIVEDVTQNILLKVPEPINLQWVMAKYPVLYEESMNTVLVQEVIRYNRLLQVITQTLQDLLKALKGLVVMSSQLE
LMAASLYNNTVPELWSAKAYPSLKPLSSWVMDLLQRLDFLQAWIQDGIPAVFWISGFFFPQAFLTGTLQNFARKF
VISIDTISFDFKVMFEAPSELTQRPQVGCYIHGLFLEGARWDPEAFQLAESQPKELYTEMAVIWLLPTPNRKAQD
QDFYLCPIYKTLTRAGTLSTTGHSTNYVIAVEIPTHQPQRHWIKRGVALICALDY
Structural information
Interpro:  IPR035699  IPR011704  IPR035706  IPR026983  IPR026975  
IPR024743  IPR024317  IPR004273  IPR013602  IPR027417  
MINT:  
STRING:   ENSP00000401514
Other Databases GeneCards:  DNAH1  Malacards:  DNAH1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0001539 cilium or flagellum-depen
dent cell motility
 NAS biological process
GO:0003351 epithelial cilium movemen
t
 IEA biological process
GO:0003777 microtubule motor activit
y
 NAS molecular function
GO:0005524 ATP binding
 IEA molecular function
GO:0005737 cytoplasm
 IEA cellular component
GO:0005858 axonemal dynein complex
 NAS cellular component
GO:0005874 microtubule
 IEA cellular component
GO:0009612 response to mechanical st
imulus
 NAS biological process
GO:0016887 ATPase activity
 IEA molecular function
GO:0030286 dynein complex
 NAS cellular component
GO:0030317 flagellated sperm motilit
y
 IMP biological process
GO:0036126 sperm flagellum
 IDA cellular component
GO:0036126 sperm flagellum
 IDA cellular component
GO:0036156 inner dynein arm
 IDA cellular component
GO:0036159 inner dynein arm assembly
 IDA biological process
GO:0060294 cilium movement involved
in cell motility
 IEA biological process
GO:0000166 nucleotide binding
 IEA molecular function
GO:0001539 cilium or flagellum-depen
dent cell motility
 NAS biological process
GO:0003341 cilium movement
 IEA biological process
GO:0003351 epithelial cilium movemen
t
 IEA biological process
GO:0003774 motor activity
 IEA molecular function
GO:0003777 microtubule motor activit
y
 IEA molecular function
GO:0003777 microtubule motor activit
y
 NAS molecular function
GO:0005524 ATP binding
 IEA molecular function
GO:0005524 ATP binding
 IEA molecular function
GO:0005737 cytoplasm
 IEA cellular component
GO:0005856 cytoskeleton
 IEA cellular component
GO:0005858 axonemal dynein complex
 IEA cellular component
GO:0005858 axonemal dynein complex
 NAS cellular component
GO:0005874 microtubule
 IEA cellular component
GO:0005929 cilium
 IEA cellular component
GO:0007018 microtubule-based movemen
t
 IEA biological process
GO:0009612 response to mechanical st
imulus
 NAS biological process
GO:0016887 ATPase activity
 IEA molecular function
GO:0030286 dynein complex
 IEA cellular component
GO:0030286 dynein complex
 IEA cellular component
GO:0030286 dynein complex
 NAS cellular component
GO:0030317 flagellated sperm motilit
y
 IEA biological process
GO:0030317 flagellated sperm motilit
y
 IMP biological process
GO:0036126 sperm flagellum
 IEA cellular component
GO:0036126 sperm flagellum
 IDA cellular component
GO:0036126 sperm flagellum
 IDA cellular component
GO:0036156 inner dynein arm
 IDA cellular component
GO:0036159 inner dynein arm assembly
 IDA biological process
GO:0042995 cell projection
 IEA cellular component
GO:0060294 cilium movement involved
in cell motility
 IEA biological process
GO:0001539 cilium or flagellum-depen
dent cell motility
 NAS biological process
GO:0003777 microtubule motor activit
y
 NAS molecular function
GO:0005858 axonemal dynein complex
 NAS cellular component
GO:0009612 response to mechanical st
imulus
 NAS biological process
GO:0030286 dynein complex
 NAS cellular component
GO:0030317 flagellated sperm motilit
y
 IMP biological process
GO:0036126 sperm flagellum
 IDA cellular component
GO:0036126 sperm flagellum
 IDA cellular component
GO:0036156 inner dynein arm
 IDA cellular component
GO:0036159 inner dynein arm assembly
 IDA biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa05016Huntington disease

Diseases

Expand All | Collapse All
Associated diseases References
Impaired sperm motility MIK: 24360805
Primary infertility MIK: 24360805
Associated with spermatogenesis and epigenetic regulation MIK: 21674046
Cryptorchidism MIK: 28606200
Male Infertility MIK: 29449551
Dysplasia of the fibrous sheath (DFS) MIK: 28577616
Multiple morphologic abnormalities of the flagella (MMAF) MIK: 28577616
Male infertility MIK: 27798045
Primary infertility MIK: 24360805
Impaired sperm motility MIK: 24360805
Sperm morphological defects MIK: 29713536
Sperm motility defects MIK: 29713536
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24360805 Primary in
fertility,
impaired
sperm moti
lity
 North a
frican
 20 (18 index ca
ses, presenting
with primary i
nfertility resu
lting from impa
ired sperm moti
lity caused by
a mosaic of mul
tiple morpholog
ical abnormalit
ies of the flag
ella (MMAF) inc
luding absent,
short, coiled,
bent, and irreg
ular flagella)
 Male infertility
Show abstract
30544445 Male infer
tility
 g.52418050del, g.52404762T>G, g.52430536del, g.52412620del Chinese
 287 (87 cases o
f asthenozoospe
rmia, 200 nonob
structive azoos
permia cases)
 Male infertility
Show abstract
28577616 Multiple m
orphologic
abnormali
ties of th
e flagella
(MMAF), D
FS, Male i
nfertility
 52409336C>T in exon 45 and 52430998CCT>C in exon 73, 52402755A>G in exon 37 and 52428484G>T in exon 67, Han Chi
nese
 71 (21 patients
with primary i
nfertility and
diagnosed with
asthenozoosperm
ia and MMAF, 50
normal healthy
men)
 Male infertility
Show abstract
27798045 Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF), Mal
e infertil
ity
 c.8626-1G > A Iranian
 48 patients wit
h Multiple morp
hological abnor
malities of the
sperm flagella
(MMAF)
 Male infertility
Show abstract
27573432 Multiple m
orphologic
al anomali
es of the
flagella (
MMAF), Mal
e infertil
ity
 c.11726_11727delCT (p.[Pro3909ArgfsTer33]) in exon 73 Chinese
Male infertility
Show abstract
29713536 Sperm morp
hological
defects
 c.6253_6254del, c.11726_11727del (p.R2085fs, p.P3909fs)], [c.7377?+?1G?>?C ()], [c.A3836G, c.11726_11727del (p.K1279R, p.P3909fs)], [c.C12397T, c.11726_11727del (p.R4133C, p.P3909fs)], c.5766-2A?>?G, c.G10630T (p.E3544X)], [c.C4115T,c.11726_11727del (p.T1

Male infertility NGS
 Show abstract
29449551 Male Infer
tility
 c.7531delC ( p.Gln2511SerfsTer27), c.2127dupC (p.Ile710HisfsTer4), c.4744_4752delCCAGCTGGC (p.Pro1582_Gly1584del ), c.4531G>A (p.Val1511Met), c.4642C>G (p.Leu1548Val), c.7153T>A (p.Trp2385Arg), c.9505C>G (p.Arg3169Gly) Tunisia
, Afgha
nistan,
Iran,
Algeria
, Franc
e, Turk
ey, Mor
occo, I
ran, Fr
ance
 78 MMAF
 Male infertility
Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Associated
with sper
matogenesi
s and epig
enetic reg
ulation
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract