DNAH1

Chr 3p21.1

dynein axonemal heavy chain 1

Aliases:: XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11
MANE:: ENST00000420323.7

OMIM: 603332 ↗NCBI: 25981 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DNAH1 · Q9P2D7-3isoform

No predicted structure exists for the canonical Q9P2D7 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for DNAH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

1,205 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)46%
Low(50–70)7%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Laterality disorders and isomerism
Childhood onset dystonia, chorea or related movement disorder
Primary ciliary disorders
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spermatogenic failure 18
0.79
ciliary dyskinesia, primary, 37
0.71
primary ciliary dyskinesia
0.60
non-syndromic male infertility due to sperm motility disorder
0.45
Reduced sperm motility
0.27
Abnormal sperm morphology
0.27
oligospermia
0.27
neurodegenerative disease
0.25
osteoarthritis
0.19
diverticular disease
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dynein axonemal heavy chain 1

Force generating protein of cilia required for sperm flagellum motility. 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. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805)