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Protein-coding gene in the species Homo sapiens

DNAH1

DNAH1
All data from the card 17
Aliases
DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37
External IDs
OMIM: 603332; MGI: 107721; GeneCards: DNAH1
Chr.
Chromosome 3 (human)
Band
3p21.1
End
52,400,492 bp
Chr.
Chromosome 14 (mouse)
Band
14 B|14 19.1 cM
End
31,045,853 bp
BioGPS
n/a
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
25981
Ensembl
ENSG00000114841
UniProt
Q9P2D7
RefSeq (mRNA)
NM_015512
RefSeq (protein)
NP_056327
Location (UCSC)
Chr 3: 52.32 – 52.4 Mb

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

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].

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