Male Infertility Database

Search Result

Gene id

1767

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

DNAH5 Gene UCSC Ensembl

Aliases

CILD3, DNAHC5, HL1, KTGNR, PCD

Gene name

dynein axonemal heavy chain 5

Alternate names

dynein heavy chain 5, axonemal, axonemal beta dynein heavy chain 5, ciliary dynein heavy chain 5, dynein, axonemal, heavy polypeptide 5,

Gene location

5p15.2 (14011828: 13690327) Exons: 86 NC_000005.10

Gene summary(Entrez)

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase

OMIM

603335

SNPs

rs397515541

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

NC_000005.10   g.13902053C>G
NC_000005.9   g.13902162C>G
NG_013081.2   g.47428G>C
NG_013081.1   g.47428G>C
NM_001369.2   c.1730G>C
XM_005248262.3   c.1838G>C
XM_005248262.1   c.1685G>C
XM_017009179.2   c.743G>C
XM_024454388.1   c.743G>C
XM_024454389.1   c.332G>C
XM_0170

rs397515540

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

NC_000005.10   g.13753290del
NC_000005.9   g.13753399del
NG_013081.2   g.196191del
NG_013081.1   g.196191del
NM_001369.2   c.10815del
XM_005248262.3   c.10923del
XM_005248262.1   c.10770del
XM_017009179.2   c.9828del
XM_024454388.1   c.9828del
XM_024454389.1   c.9417del

Protein Summary

Protein general information

Q8TE73

Name: Dynein heavy chain 5, axonemal (Axonemal beta dynein heavy chain 5) (Ciliary dynein heavy chain 5)

Length: 4624 Mass: 529,021

Sequence

MFRIGRRQLWKHSVTRVLTQRLKGEKEAKRALLDARHNYLFAIVASCLDLNKTEVEDAILEGNQIERIDQLFAVG
GLRHLMFYYQDVEEAETGQLGSLGGVNLVSGKIKKPKVFVTEGNDVALTGVCVFFIRTDPSKAITPDNIHQEVSF
NMLDAADGGLLNSVRRLLSDIFIPALRATSHGWGELEGLQDAANIRQEFLSSLEGFVNVLSGAQESLKEKVNLRK
CDILELKTLKEPTDYLTLANNPETLGKIEDCMKVWIKQTEQVLAENNQLLKEADDVGPRAELEHWKKRLSKFNYL
LEQLKSPDVKAVLAVLAAAKSKLLKTWREMDIRITDATNEAKDNVKYLYTLEKCCDPLYSSDPLSMMDAIPTLIN
AIKMIYSISHYYNTSEKITSLFVKVTNQIISACKAYITNNGTASIWNQPQDVVEEKILSAIKLKQEYQLCFHKTK
QKLKQNPNAKQFDFSEMYIFGKFETFHRRLAKIIDIFTTLKTYSVLQDSTIEGLEDMATKYQGIVATIKKKEYNF
LDQRKMDFDQDYEEFCKQTNDLHNELRKFMDVTFAKIQNTNQALRMLKKFERLNIPNLGIDDKYQLILENYGADI
DMISKLYTKQKYDPPLARNQPPIAGKILWARQLFHRIQQPMQLFQQHPAVLSTAEAKPIIRSYNRMAKVLLEFEV
LFHRAWLRQIEEIHVGLEASLLVKAPGTGELFVNFDPQILILFRETECMAQMGLEVSPLATSLFQKRDRYKRNFS
NMKMMLAEYQRVKSKIPAAIEQLIVPHLAKVDEALQPGLAALTWTSLNIEAYLENTFAKIKDLELLLDRVNDLIE
FRIDAILEEMSSTPLCQLPQEEPLTCEEFLQMTKDLCVNGAQILHFKSSLVEEAVNELVNMLLDVEVLSEEESEK
ISNENSVNYKNESSAKREEGNFDTLTSSINARANALLLTTVTRKKKETEMLGEEARELLSHFNHQNMDALLKVTR
NTLEAIRKRIHSSHTINFRDSNSASNMKQNSLPIFRASVTLAIPNIVMAPALEDVQQTLNKAVECIISVPKGVRQ
WSSELLSKKKIQERKMAALQSNEDSDSDVEMGENELQDTLEIASVNLPIPVQTKNYYKNVSENKEIVKLVSVLST
IINSTKKEVITSMDCFKRYNHIWQKGKEEAIKTFITQSPLLSEFESQILYFQNLEQEINAEPEYVCVGSIALYTA
DLKFALTAETKAWMVVIGRHCNKKYRSEMENIFMLIEEFNKKLNRPIKDLDDIRIAMAALKEIREEQISIDFQVG
PIEESYALLNRYGLLIAREEIDKVDTLHYAWEKLLARAGEVQNKLVSLQPSFKKELISAVEVFLQDCHQFYLDYD
LNGPMASGLKPQEASDRLIMFQNQFDNIYRKYITYTGGEELFGLPATQYPQLLEIKKQLNLLQKIYTLYNSVIET
VNSYYDILWSEVNIEKINNELLEFQNRCRKLPRALKDWQAFLDLKKIIDDFSECCPLLEYMASKAMMERHWERIT
TLTGHSLDVGNESFKLRNIMEAPLLKYKEEIEDICISAVKERDIEQKLKQVINEWDNKTFTFGSFKTRGELLLRG
DSTSEIIANMEDSLMLLGSLLSNRYNMPFKAQIQKWVQYLSNSTDIIESWMTVQNLWIYLEAVFVGGDIAKQLPK
EAKRFSNIDKSWVKIMTRAHEVPSVVQCCVGDETLGQLLPHLLDQLEICQKSLTGYLEKKRLCFPRFFFVSDPAL
LEILGQASDSHTIQAHLLNVFDNIKSVKFHEKIYDRILSISSQEGETIELDKPVMAEGNVEVWLNSLLEESQSSL
HLVIRQAAANIQETGFQLTEFLSSFPAQVGLLGIQMIWTRDSEEALRNAKFDKKIMQKTNQAFLELLNTLIDVTT
RDLSSTERVKYETLITIHVHQRDIFDDLCHMHIKSPMDFEWLKQCRFYFNEDSDKMMIHITDVAFIYQNEFLGCT
DRLVITPLTDRCYITLAQALGMSMGGAPAGPAGTGKTETTKDMGRCLGKYVVVFNCSDQMDFRGLGRIFKGLAQS
GSWGCFDEFNRIDLPVLSVAAQQISIILTCKKEHKKSFIFTDGDNVTMNPEFGLFLTMNPGYAGRQELPENLKIN
FRSVAMMVPDRQIIIRVKLASCGFIDNVVLARKFFTLYKLCEEQLSKQVHYDFGLRNILSVLRTLGAAKRANPMD
TESTIVMRVLRDMNLSKLIDEDEPLFLSLIEDLFPNILLDKAGYPELEAAISRQVEEAGLINHPPWKLKVIQLFE
TQRVRHGMMTLGPSGAGKTTCIHTLMRAMTDCGKPHREMRMNPKAITAPQMFGRLDVATNDWTDGIFSTLWRKTL
RAKKGEHIWIILDGPVDAIWIENLNSVLDDNKTLTLANGDRIPMAPNCKIIFEPHNIDNASPATVSRNGMVFMSS
SILDWSPILEGFLKKRSPQEAEILRQLYTESFPDLYRFCIQNLEYKMEVLEAFVITQSINMLQGLIPLKEQGGEV
SQAHLGRLFVFALLWSAGAALELDGRRRLELWLRSRPTGTLELPPPAGPGDTAFDYYVAPDGTWTHWNTRTQEYL
YPSDTTPEYGSILVPNVDNVRTDFLIQTIAKQGKAVLLIGEQGTAKTVIIKGFMSKYDPECHMIKSLNFSSATTP
LMFQRTIESYVDKRMGTTYGPPAGKKMTVFIDDVNMPIINEWGDQVTNEIVRQLMEQNGFYNLEKPGEFTSIVDI
QFLAAMIHPGGGRNDIPQRLKRQFSIFNCTLPSEASVDKIFGVIGVGHYCTQRGFSEEVRDSVTKLVPLTRRLWQ
MTKIKMLPTPAKFHYVFNLRDLSRVWQGMLNTTSEVIKEPNDLLKLWKHECKRVIADRFTVSSDVTWFDKALVSL
VEEEFGEEKKLLVDCGIDTYFVDFLRDAPEAAGETSEEADAETPKIYEPIESFSHLKERLNMFLQLYNESIRGAG
MDMVFFADAMVHLVKISRVIRTPQGNALLVGVGGSGKQSLTRLASFIAGYVSFQITLTRSYNTSNLMEDLKVLYR
TAGQQGKGITFIFTDNEIKDESFLEYMNNVLSSGEVSNLFARDEIDEINSDLASVMKKEFPRCLPTNENLHDYFM
SRVRQNLHIVLCFSPVGEKFRNRALKFPALISGCTIDWFSRWPKDALVAVSEHFLTSYDIDCSLEIKKEVVQCMG
SFQDGVAEKCVDYFQRFRRSTHVTPKSYLSFIQGYKFIYGEKHVEVRTLANRMNTGLEKLKEASESVAALSKELE
AKEKELQVANDKADMVLKEVTMKAQAAEKVKAEVQKVKDRAQAIVDSISKDKAIAEEKLEAAKPALEEAEAALQT
IRPSDIATVRTLGRPPHLIMRIMDCVLLLFQRKVSAVKIDLEKSCTMPSWQESLKLMTAGNFLQNLQQFPKDTIN
EEVIEFLSPYFEMPDYNIETAKRVCGNVAGLCSWTKAMASFFSINKEVLPLKANLVVQENRHLLAMQDLQKAQAE
LDDKQAELDVVQAEYEQAMTEKQTLLEDAERCRHKMQTASTLISGLAGEKERWTEQSQEFAAQTKRLVGDVLLAT
AFLSYSGPFNQEFRDLLLNDWRKEMKARKIPFGKNLNLSEMLIDAPTISEWNLQGLPNDDLSIQNGIIVTKASRY
PLLIDPQTQGKIWIKNKESRNELQITSLNHKYFRNHLEDSLSLGRPLLIEDVGEELDPALDNVLERNFIKTGSTF
KVKVGDKEVDVLDGFRLYITTKLPNPAYTPEISARTSIIDFTVTMKGLEDQLLGRVILTEKQELEKERTHLMEDV
TANKRRMKELEDNLLYRLTSTQGSLVEDESLIVVLSNTKRTAEEVTQKLEISAETEVQINSAREEYRPVATRGSI
LYFLITEMRLVNEMYQTSLRQFLGLFDLSLARSVKSPITSKRIANIIEHMTYEVYKYAARGLYEEHKFLFTLLLT
LKIDIQRNRVKHEEFLTLIKGGASLDLKACPPKPSKWILDITWLNLVELSKLRQFSDVLDQISRNEKMWKIWFDK
ENPEEEPLPNAYDKSLDCFRRLLLIRSWCPDRTIAQARKYIVDSMGEKYAEGVILDLEKTWEESDPRTPLICLLS
MGSDPTDSIIALGKRLKIETRYVSMGQGQEVHARKLLQQTMANGGWALLQNCHLGLDFMDELMDIIIETELVHDA
FRLWMTTEAHKQFPITLLQMSIKFANDPPQGLRAGLKRTYSGVSQDLLDVSSGSQWKPMLYAVAFLHSTVQERRK
FGALGWNIPYEFNQADFNATVQFIQNHLDDMDVKKGVSWTTIRYMIGEIQYGGRVTDDYDKRLLNTFAKVWFSEN
MFGPDFSFYQGYNIPKCSTVDNYLQYIQSLPAYDSPEVFGLHPNADITYQSKLAKDVLDTILGIQPKDTSGGGDE
TREAVVARLADDMLEKLPPDYVPFEVKERLQKMGPFQPMNIFLRQEIDRMQRVLSLVRSTLTELKLAIDGTIIMS
ENLRDALDCMFDARIPAWWKKASWISSTLGFWFTELIERNSQFTSWVFNGRPHCFWMTGFFNPQGFLTAMRQEIT
RANKGWALDNMVLCNEVTKWMKDDISAPPTEGVYVYGLYLEGAGWDKRNMKLIESKPKVLFELMPVIRIYAENNT
LRDPRFYSCPIYKKPVRTDLNYIAAVDLRTAQTPEHWVLRGVALLCDVK

Structural information

Interpro:	IPR003593 IPR035699 IPR011704 IPR035706 IPR026983 IPR024743 IPR024317 IPR004273 IPR013594 IPR013602 IPR027417
STRING:	ENSP00000265104

Other Databases

GeneCards: DNAH5 Malacards: DNAH5

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003777	microtubule motor activit y	NAS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007507	heart development	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0021670	lateral ventricle develop ment	IEA	biological process
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IDA	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003341	cilium movement	IEA	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0003777	microtubule motor activit y	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:0005575	cellular_component	ND	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005858	axonemal dynein complex	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0007018	microtubule-based movemen t	IEA	biological process
GO:0007368	determination of left/rig ht symmetry	IEA	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007507	heart development	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0021670	lateral ventricle develop ment	IEA	biological process
GO:0030286	dynein complex	IEA	cellular component
GO:0030286	dynein complex	IEA	cellular component
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IDA	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003777	microtubule motor activit y	NAS	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0008150	biological_process	ND	biological process
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036157	outer dynein arm	IDA	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process

KEGG pathways

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Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

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Associated diseases	References
Atherosclerosis	GAD: 17903303
Blood pressure	GAD: 17903303
Primary ciliary dyskinesia	KEGG: H00564
Non-syndromic asthenozoospermia	MIK: 18492703
Male factor infertility	MIK: 18492703
Asthenozoospermia	MIK: 18492703
Rhinitis	GAD: 22036096
Rhinitis	GAD: 22036096
Kartagener Syndrome	GAD: 19357118
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 30148830
Asthenozoospermia	MIK: 18492703

PubMed references

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PMID	Condition	Mutation	Population details	Infertility_type	Associated_genes	Abstract
18492703	Non-syndro mic asthen ozoospermi a	DNAI1 (CGC>TGC;R663C, GCT>TCT;A8S, GTC>ATC;V335I), DNAH5 (GAA>AAA; E1756K, GAG>GAT; E2666D, CGG>CGT; R1458R, GCC>GCT;A1724A, ACG>ACA;T2966T, ACA>ACG;T3491T, GCC>GCT;A4357A), DNAH11 (ATT>GTT;I3040V, CGG>CAG;R3004Q)	290 (90 patient s with isolated non-syndromic AZS, 200 contro ls)	Male infertility	DNAH5	Show abstract
30148830	Male infer tility	p.Arg242, p.Gln203		Male infertility		Show abstract
28606200	Cryptorchi dism		Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

Expand All | Collapse All

KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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