Entity Details

Primary name DNAH1
Entity type gene
Source Source Link

Details

PrimaryID25981
RefseqGeneNG_052911
SymbolDNAH1
Namedynein axonemal heavy chain 1
Chromosome3
Location3p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-18
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsDYH1_HUMAN

GO terms

Show/Hide Table
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

Diseases

Show/Hide Table
Disease IDSourceNameDescription
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.
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.

Interactions

10 interactions