DNAH1

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene. ^[5]

DNAH1
Identifiers
Aliases	DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37
External IDs	OMIM: 603332; MGI: 107721; HomoloGene: 67131; GeneCards: DNAH1; OMA:DNAH1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.1 Start 52,316,319 bp[1] End 52,400,492 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 B|14 19.1 cM Start 30,982,332 bp[2] End 31,045,853 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell granulocyte left testis right testis olfactory zone of nasal mucosa right lobe of liver right frontal lobe bone marrow cell tendon of biceps brachii Top expressed in spermatocyte arcuate nucleus seminiferous tubule spermatid supraoptic nucleus median eminence paraventricular nucleus of hypothalamus ventromedial nucleus vas deferens dorsomedial hypothalamic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function microtubule motor activity nucleotide binding ATPase activity cytoskeletal motor activity ATP binding minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding Cellular component cytoplasm inner dynein arm cell projection cilium axonemal dynein complex microtubule cytoskeleton dynein complex axoneme motile cilium sperm flagellum extracellular region Biological process microtubule-based movement inner dynein arm assembly cilium-dependent cell motility cilium movement sperm axoneme assembly epithelial cilium movement involved in extracellular fluid movement flagellated sperm motility cilium movement involved in cell motility Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25981 110084 Ensembl ENSG00000114841 ENSMUSG00000019027 UniProt Q9P2D7 E9Q8T7 RefSeq (mRNA) NM_015512 NM_001033668 RefSeq (protein) NP_056327 NP_001028840 Location (UCSC) Chr 3: 52.32 – 52.4 Mb Chr 14: 30.98 – 31.05 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017].