DNAH1

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DNAH1
Identifiers
AliasesDNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37
External IDsMGI: 107721 HomoloGene: 67131 GeneCards: DNAH1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for DNAH1
Genomic location for DNAH1
Band3p21.1Start52,316,319 bp[1]
End52,400,491 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015512

NM_001033668

RefSeq (protein)

NP_056327

NP_001028840

Location (UCSC)Chr 3: 52.32 – 52.4 MbChr 14: 31.26 – 31.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function[edit]

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].

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000114841 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019027 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: Dynein axonemal heavy chain 1". Retrieved 2017-11-06.

Further reading[edit]


This article incorporates text from the United States National Library of Medicine, which is in the public domain.