DNAH5

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

Description

Dynein axonemal heavy chain 5

Tissue specificity

Tissue enhanced (brain, choroid plexus, fallopian tube)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

5 (13690328 - 14011818)

Ensembl ID

ENSG00000039139  (ver. 103.38)

Orthologs

Mouse Dnah5: ENSMUSG00000022262

UniProt

Q8TE73

neXtProt

NX_Q8TE73

Human splice variants
Mouse splice variants

Protein structure