InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POU1F1

Summary

InnateDB Protein

IDBP-45752.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POU1F1

Protein Name

POU class 1 homeobox 1

Synonyms

CPHD1; GHF-1; Pit-1; PIT1; POU1F1a;

Species

Homo sapiens

Ensembl Protein

ENSP00000263781

InnateDB Gene

IDBG-45748 (POU1F1)

Protein Structure

UniProt Annotation

Function

Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds to the consensus sequence 5'- TAAAT-3'.

Subcellular Localization

Nucleus.

Disease Associations

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 mental retardation along with short stature. {ECO:0000269PubMed:11297581, ECO:0000269PubMed:1472057, ECO:0000269PubMed:1509262, ECO:0000269PubMed:1509263, ECO:0000269PubMed:15928241, ECO:0000269PubMed:16968807, ECO:0000269PubMed:7852536, ECO:0000269PubMed:8768831, ECO:0000269PubMed:9485179, ECO:0000269PubMed:9626142}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001102	RNA polymerase II activating transcription factor binding
GO:0001105	RNA polymerase II transcription coactivator activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0008285	negative regulation of cell proliferation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter