DNAH1 gene

dynein axonemal heavy chain 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly.

From NCBI Gene:

  • CILIARY DYSKINESIA, PRIMARY, 37
  • SPERMATOGENIC FAILURE 18

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1

Molecular Location: base pairs 52,313,010 to 52,400,497 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1
  • CILD37
  • DNAHC1
  • HDHC7
  • HL-11
  • HL11
  • HSRF-1
  • SPGF18
  • XLHSRF-1