PROP1
entrez
5626
canonical
uniprot
O75360
canonical
ensembl
ENSG00000175325
resolver
ensembl
ENSG00000274382
resolver
ensp
ENSP00000311290
resolver
ensp
ENSP00000484677
resolver
enst
ENST00000308304
resolver
enst
ENST00000614006
resolver
genesymbol
PROP1
resolver
hgnc
HGNC:9455
resolver
uniprot
A0A0G2JQ02
resolver
uniprot_entry
A0A0G2JQ02_HUMAN
resolver
uniprot_entry
PROP1_HUMAN
resolver
amino_acid_sequence
MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN
uniprot
proteins
disease_involvement
DISEASE: Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone. {ECO:0000269|PubMed:10946881, ECO:0000269|PubMed:11549703, ECO:0000269|PubMed:12519826, ECO:0000269|PubMed:15531542, ECO:0000269|PubMed:19128366, ECO:0000269|PubMed:9462743, ECO:0000269|PubMed:9768691}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
uniprot
proteins
mass_dalton
24984
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10946881
uniprot
proteins
pubmed
11549703
uniprot
proteins
pubmed
12519826
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15531542
uniprot
proteins
pubmed
19128366
uniprot
proteins
pubmed
9462743
uniprot
proteins
pubmed
9768691
uniprot
proteins
pubmed
9824293
uniprot
proteins
sequence_length
226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins