POU1F1

Protein identityUniProt · HPA

UniProt accession

P28069

Gene

POU1F1

Ensembl

ENSG00000064835

Chromosome

3

Canonical length

291 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

291 residues, UniProt reviewed canonical sequence.

>P28069|POU1F1
     1  MSCQAFTSAD TFIPLNSDAS ATLPLIMHHS AAECLPVSNH ATNVMSTATG LHYSVPSCHY
    61  GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPIHQPLLAE DPTAADFKQE LRRKSKLVEE
   121  PIDMDSPEIR ELEKFANEFK VRRIKLGYTQ TNVGEALAAV HGSEFSQTTI CRFENLQLSF
   181  KNACKLKAIL SKWLEEAEQV GALYNEKVGA NERKRKRRTT ISIAAKDALE RHFGEQNKPS
   241  SQEIMRMAEE LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POU1F1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

55 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POU1F1.

Disease | AllUniProt

Conditions POU1F1 is implicated in, by any mechanism.

• Pituitary hormone deficiency, combined, 1 (CPHD1) MIM:613038

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 241 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pituitary hormone deficiency, combined, 1
• Combined pituitary hormone deficiencies, genetic form
• POU1F1-related disorder
• Inborn genetic diseases
• Leber congenital amaurosis 5

Disease | AutoantibodyPubMed

Conditions in which antibodies against POU1F1 are reported. Each links to that disease's full target list.

• Polyendocrinopathies, Autoimmune 5

Showing 1 of 2 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for POU1F1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.68

gnomAD pLI

0.05

gnomAD missense Z

0.46

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenohypophysis development
• negative regulation of cell population proliferation
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• lncRNA binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytosol
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• POU-specific domain
• Homeodomain
• Homedomain-like superfamily
• Lambda repressor-like, DNA-binding domain superfamily
• POU domain
• Homeobox, conserved site
• POU domain transcription factor
• Homeodomain
• Pou domain - N-terminal to homeobox domain

KeywordsUniProt

• Activator
• DNA-binding
• Dwarfism
• Homeobox
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of POU1F1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ELK1
• LHX3
• PITX1