HOXB1
entrez
3211
canonical
uniprot
P14653
canonical
ensembl
ENSG00000120094
resolver
ensp
ENSP00000355140
resolver
genesymbol
HOXB1
resolver
genesymbol_syn
HOX2I
resolver
hgnc
HGNC:5111
resolver
uniprot
Q4VB03
resolver
uniprot_entry
HXB1_HUMAN
resolver
uniprot_sec
Q4VB03
resolver
amino_acid_sequence
MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYASEGRYGGGLSSPAFQQNSGYPAQQPPSTLGVPFPSSAPSGYAPAACSPSYGPSQYYPLGQSEGDGGYFHPSSYGAQLGGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLLSEDKETPCPSEPNTPTARTFDWMKVKRNPPKTAKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRARRVEIAATLELNETQVKIWFQNRRMKQKKREREEGRVPPAPPGCPKEAAGDASDQSTCTSPEASPSSVTS
uniprot
proteins
disease_involvement
DISEASE: Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]: A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. {ECO:0000269|PubMed:22770981}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.
uniprot
proteins
mass_dalton
32193
uniprot
proteins
protein_family
Antp homeobox family
uniprot
proteins
protein_family
Labial subfamily
uniprot
proteins
pubmed
10052460
uniprot
proteins
pubmed
10671062
uniprot
proteins
pubmed
11091361
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
22770981
uniprot
proteins
pubmed
2574852
uniprot
proteins
pubmed
2576652
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins