POU1F1
entrez
5449
canonical
uniprot
P28069
canonical
ensembl
ENSG00000064835
resolver
ensp
ENSP00000263781
resolver
ensp
ENSP00000342931
resolver
genesymbol
POU1F1
resolver
genesymbol_syn
GHF1
resolver
genesymbol_syn
PIT1
resolver
hgnc
HGNC:9210
resolver
uniprot
O75757
resolver
uniprot
Q15132
resolver
uniprot
Q15133
resolver
uniprot
Q9UD34
resolver
uniprot
Q9UEL3
resolver
uniprot_entry
PIT1_HUMAN
resolver
uniprot_sec
O75757
resolver
uniprot_sec
Q15132
resolver
uniprot_sec
Q15133
resolver
uniprot_sec
Q9UD34
resolver
uniprot_sec
Q9UEL3
resolver
amino_acid_sequence
MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVMSTATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDPTAADFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAVHGSEFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRRTTISIAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSLNQSLFSISKEHLECR
uniprot
proteins
disease_involvement
DISEASE: Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe intellectual disability along with short stature. {ECO:0000269|PubMed:11297581, ECO:0000269|PubMed:1472057, ECO:0000269|PubMed:1509262, ECO:0000269|PubMed:1509263, ECO:0000269|PubMed:15928241, ECO:0000269|PubMed:16968807, ECO:0000269|PubMed:22010633, ECO:0000269|PubMed:26612202, ECO:0000269|PubMed:7852536, ECO:0000269|PubMed:8768831, ECO:0000269|PubMed:9485179, ECO:0000269|PubMed:9626142}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202). {ECO:0000269|PubMed:22010633, ECO:0000269|PubMed:26612202}.
uniprot
proteins
mass_dalton
32912
uniprot
proteins
mutagenesis
MUTAGEN 74; /note="L->A: No effect on the interaction with ELK1, LHX3 and PITX1."; /evidence="ECO:0000269|PubMed:26612202"; MUTAGEN 75; /note="T->A: Increases the interaction with LHX3. No effect on the interaction with ELK1."; /evidence="ECO:0000269|PubMed:26612202"; MUTAGEN 76; /note="P->A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1."; /evidence="ECO:0000269|PubMed:26612202"; MUTAGEN 77; /note="C->A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1."; /evidence="ECO:0000269|PubMed:26612202"; MUTAGEN 78; /note="L->A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1."; /evidence="ECO:0000269|PubMed:26612202
uniprot
proteins
protein_family
Class-1 subfamily
uniprot
proteins
protein_family
POU transcription factor family
uniprot
proteins
pubmed
11297581
uniprot
proteins
pubmed
1370379
uniprot
proteins
pubmed
1472057
uniprot
proteins
pubmed
1487156
uniprot
proteins
pubmed
1509262
uniprot
proteins
pubmed
1509263
uniprot
proteins
pubmed
15928241
uniprot
proteins
pubmed
16968807
uniprot
proteins
pubmed
1956794
uniprot
proteins
pubmed
22010633
uniprot
proteins
pubmed
26612202
uniprot
proteins
pubmed
34342803
uniprot
proteins
pubmed
7721104
uniprot
proteins
pubmed
7852536
uniprot
proteins
pubmed
8346040
uniprot
proteins
pubmed
8768831
uniprot
proteins
pubmed
9485179
uniprot
proteins
pubmed
9626142
uniprot
proteins
sequence_length
291
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26612202}.
uniprot
proteins