HOXA1

Chr 7p15.2

homeobox A1

MANE:: ENST00000643460.2

OMIM: 142955 ↗NCBI: 3198 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HOXA1 · P49639

v62025-08-01

Predicted Aligned Error matrix for HOXA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.8/ 100

Low

335 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)5%
Low(50–70)25%
Very low(< 50)53%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

Athabaskan brainstem dysgenesis syndrome
0.71
Bosley-Salih-Alorainy syndrome
0.71
human HOXA1 syndromes
0.70
syndromic intellectual disability
0.37
multiple sclerosis
0.27
hereditary disease
0.19
Intellectual disability
0.12
bilateral microtia-deafness-cleft palate syndrome
0.12
breast cancer
0.10
breast carcinoma
0.10

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

Protein function (UniProt)

Homeobox protein Hox-A1

Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity)