HOXA1
entrez
3198
canonical
uniprot
P49639
canonical
ensembl
ENSG00000105991
resolver
ensp
ENSP00000347851
resolver
ensp
ENSP00000494260
resolver
enst
ENST00000355633
resolver
genesymbol
HOXA1
resolver
genesymbol_syn
HOX1F
resolver
hgnc
HGNC:5099
resolver
uniprot
A0A2R8Y4R9
resolver
uniprot
A4D184
resolver
uniprot
B2R8U7
resolver
uniprot
E7ERT8
resolver
uniprot
O43363
resolver
uniprot_entry
E7ERT8_HUMAN
resolver
uniprot_entry
HXA1_HUMAN
resolver
uniprot_sec
A0A2R8Y4R9
resolver
uniprot_sec
A4D184
resolver
uniprot_sec
B2R8U7
resolver
uniprot_sec
O43363
resolver
amino_acid_sequence
MDNARMNSFLEYPILSSGDSGTCSARAYPSDHRITTFQSCAVSANSCGGDDRFLVGRGVQIGSPHHHHHHHHRHPQPATYQTSGNLGVSYSHSSCGPSYGSQNFSAPYSPYALNQEADVSGGYPQCAPAVYSGNLSSPMVQHHHHHQGYAGGAVGSPQYIHHSYGQEHQSLALATYNNSLSPLHASHQEACRSPASETSSPAQTFDWMKVKRNPPKTGKVGEYGYLGQPNAVRTNFTTKQLTELEKEFHFNKYLTRARRVEIAASLQLNETQVKIWFQNRRMKQKKREKEGLLPISPATPPGNDEKAEESSEKSSSSPCVPSPGSSTSDTLTTSH
uniprot
proteins
disease_involvement
DISEASE: Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. {ECO:0000269|PubMed:16155570}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P09022, ECO:0000250|UniProtKB:Q90423, ECO:0000269|PubMed:16155570}.
uniprot
proteins
mass_dalton
36660
uniprot
proteins
protein_family
Antp homeobox family
uniprot
proteins
protein_family
Labial subfamily
uniprot
proteins
pubmed
11091361
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16155570
uniprot
proteins
pubmed
7488013
uniprot
proteins
pubmed
7622051
uniprot
proteins
pubmed
9191052
uniprot
proteins
sequence_length
335
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P09022}.
uniprot
proteins