HOXA13
entrez
3209
canonical
uniprot
P31271
canonical
ensembl
ENSG00000106031
resolver
ensp
ENSP00000497112
resolver
enst
ENST00000649031
resolver
genesymbol
HOXA13
resolver
genesymbol_syn
HOX1J
resolver
hgnc
HGNC:5102
resolver
uniprot
A4D188
resolver
uniprot
O43371
resolver
uniprot
Q6DI00
resolver
uniprot_entry
HXA13_HUMAN
resolver
uniprot_entry
Q6DI00_HUMAN
resolver
uniprot_sec
A4D188
resolver
uniprot_sec
O43371
resolver
amino_acid_sequence
MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAAAAAAAAAGAGGGGFPHPAAAAAGGNFSVAAAAAAAAAAAANQCRNLMAHPAPLAPGAASAYSSAPGEAPPSAAAAAAAAAAAAAAAAAASSSGGPGPAGPAGAEAAKQCSPCSAAAQSSSGPAALPYGYFGSGYYPCARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFSSRAKEFAFYHQGYAAGPYHHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWALPNGWNGQMYCPKEQAQPPHLWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQLKELEREYATNKFITKDKRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS
uniprot
proteins
disease_involvement
DISEASE: Hand-foot-genital syndrome (HFG) [MIM:140000]: A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. {ECO:0000269|PubMed:10839976, ECO:0000269|PubMed:12073020, ECO:0000269|PubMed:24934387, ECO:0000269|PubMed:26590955}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. {ECO:0000269|PubMed:11968094}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.; 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.
uniprot
proteins
mass_dalton
39727
uniprot
proteins
protein_family
Abd-B homeobox family
uniprot
proteins
pubmed
10839976
uniprot
proteins
pubmed
11968094
uniprot
proteins
pubmed
12073020
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
21829694
uniprot
proteins
pubmed
24934387
uniprot
proteins
pubmed
2574852
uniprot
proteins
pubmed
26590955
uniprot
proteins
pubmed
9020844
uniprot
proteins
sequence_length
388
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins