HOXA11
entrez
3207
canonical
uniprot
P31270
canonical
ensembl
ENSG00000005073
resolver
ensp
ENSP00000006015
resolver
enst
ENST00000006015
resolver
genesymbol
HOXA11
resolver
genesymbol_syn
HOX1I
resolver
hgnc
HGNC:5101
resolver
uniprot
A4D190
resolver
uniprot_entry
HXA11_HUMAN
resolver
uniprot_sec
A4D190
resolver
amino_acid_sequence
MDFDERGPCSSNMYLPSCTYYVSGPDFSSLPSFLPQTPSSRPMTYSYSSNLPQVQPVREVTFREYAIEPATKWHPRGNLAHCYSAEELVHRDCLQAPSAAGVPGDVLAKSSANVYHHPTPAVSSNFYSTVGRNGVLPQAFDQFFETAYGTPENLASSDYPGDKSAEKGPPAATATSAAAAAAATGAPATSSSDSGGGGGCRETAAAAEEKERRRRPESSSSPESSSGHTEDKAGGSSGQRTRKKRCPYTKYQIRELEREFFFSVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKINRDRLQYYSANPLL
uniprot
proteins
disease_involvement
DISEASE: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1) [MIM:605432]: The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation. {ECO:0000269|PubMed:11101832}. 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.
uniprot
proteins
mass_dalton
34486
uniprot
proteins
protein_family
Abd-B homeobox family
uniprot
proteins
pubmed
11101832
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2574852
uniprot
proteins
pubmed
9745033
uniprot
proteins
sequence_length
313
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins