HESX1
entrez
8820
canonical
uniprot
Q9UBX0
canonical
ensembl
ENSG00000163666
resolver
ensp
ENSP00000295934
resolver
ensp
ENSP00000498190
resolver
enst
ENST00000295934
resolver
enst
ENST00000647958
resolver
genesymbol
HESX1
resolver
genesymbol_syn
HANF
resolver
hgnc
HGNC:4877
resolver
uniprot
Q52LC5
resolver
uniprot
Q99667
resolver
uniprot_entry
HESX1_HUMAN
resolver
uniprot_sec
Q52LC5
resolver
uniprot_sec
Q99667
resolver
amino_acid_sequence
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRRAKLKRSHRESQFLMAKKNFNTNLLE
uniprot
proteins
disease_involvement
DISEASE: Septooptic dysplasia (SOD) [MIM:182230]: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. {ECO:0000269|PubMed:11136712, ECO:0000269|PubMed:9620767}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. {ECO:0000269|PubMed:11136712, ECO:0000269|PubMed:17148560}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269|PubMed:11136712, ECO:0000269|PubMed:14561704, ECO:0000269|PubMed:26781211}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation. {ECO:0000250|UniProtKB:Q61658, ECO:0000269|PubMed:26781211}.
uniprot
proteins
mass_dalton
21409
uniprot
proteins
protein_family
ANF homeobox family
uniprot
proteins
pubmed
11136712
uniprot
proteins
pubmed
11731482
uniprot
proteins
pubmed
14561704
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17148560
uniprot
proteins
pubmed
19561080
uniprot
proteins
pubmed
26781211
uniprot
proteins
pubmed
9373136
uniprot
proteins
pubmed
9620767
uniprot
proteins
sequence_length
185
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26781211}.
uniprot
proteins