Entity Details

Primary name DYH1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P2D7
EntryNameDYH1_HUMAN
FullNameDynein axonemal heavy chain 1
TaxID9606
Evidenceevidence at transcript level
Length4265
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesDNAH1

GO terms

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GOName
GO:0003341 cilium movement
GO:0003777 microtubule motor activity
GO:0005524 ATP binding
GO:0005858 axonemal dynein complex
GO:0005874 microtubule
GO:0005930 axoneme
GO:0007018 microtubule-based movement
GO:0007288 sperm axoneme assembly
GO:0008569 minus-end-directed microtubule motor activity
GO:0030286 dynein complex
GO:0030317 flagellated sperm motility
GO:0036126 sperm flagellum
GO:0036156 inner dynein arm
GO:0036159 inner dynein arm assembly
GO:0045505 dynein intermediate chain binding
GO:0051959 dynein light intermediate chain binding
GO:0060285 cilium-dependent cell motility

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR004273 Dynein heavy chain region D6 P-loop domainDomainDomain
IPR013602 Dynein heavy chain, linkerDomainDomain
IPR024317 Dynein heavy chain, AAA module D4DomainDomain
IPR024743 Dynein heavy chain, coiled coil stalkDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR035699 Dynein heavy chain, hydrolytic ATP-binding dynein motor regionDomainDomain
IPR035706 Dynein heavy chain, ATP-binding dynein motor regionDomainDomain
IPR041228 Dynein heavy chain, C-terminal domainDomainDomain
IPR041466 Dynein heavy chain, AAA 5 extension domainDomainDomain
IPR041589 Dynein heavy chain 3, AAA+ lid domainDomainDomain
IPR041658 Dynein heavy chain AAA lid domainDomainDomain
IPR042219 Dynein heavy chain AAA lid domain superfamilyFamilyHomologous superfamily
IPR042222 Dynein heavy chain, domain 2, N-terminalFamilyHomologous superfamily
IPR042228 Dynein heavy chain, linker, subdomain 3FamilyHomologous superfamily
IPR043157 Dynein heavy chain, AAA1 domain, small subdomainFamilyHomologous superfamily
IPR043160 Dynein heavy chain, C-terminal domain, barrel regionFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617576 OMIMSpermatogenic failure 18 (SPGF18)An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
617577 OMIMCiliary dyskinesia, primary, 37 (CILD37)A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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