Entity Details

Primary name PIT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP28069
EntryNamePIT1_HUMAN
FullNamePituitary-specific positive transcription factor 1
TaxID9606
Evidenceevidence at protein level
Length291
SequenceStatuscomplete
DateCreated1992-08-01
DateModified2021-06-02

Ontological Relatives

GenesPOU1F1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0008285 negative regulation of cell population proliferation
GO:0021984 adenohypophysis development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000327 POU-specific domainDomainDomain
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR010982 Lambda repressor-like, DNA-binding domain superfamilyFamilyHomologous superfamily
IPR013847 POU domainDomainDomain
IPR015586 Pituitary-specific positive transcription factor 1FamilyFamily
IPR017970 Homeobox, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
613038 OMIMPituitary hormone deficiency, combined, 1 (CPHD1)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. The disease is caused by variants affecting the gene represented in this entry.