POU1F1 POU class 1 homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: POU1F1provided by HGNC
Official Full Name: POU class 1 homeobox 1provided by HGNC
Primary source: HGNC:HGNC:9210
See related: Ensembl:ENSG00000064835 MIM:173110; AllianceGenome:HGNC:9210
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIT1; CPHD1; GHF-1; Pit-1; POU1F1a
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3p11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (87259404..87276584, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (87333763..87350936, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (87308554..87325734, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
Title: Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
Clinical features of anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune condition.
Title: Clinical features of anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune condition.
Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in Salmonella-Containing Vacuole in HeLa Cells.
Title: Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in Salmonella-Containing Vacuole in HeLa Cells.
CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling.
Title: CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling.
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Title: Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
Title: Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
Title: Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
Title: A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
Title: A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
Transcription Factor Pit-1 Affects Transcriptional Timing in the Dual-Promoter Human Prolactin Gene.
Title: Transcription Factor Pit-1 Affects Transcriptional Timing in the Dual-Promoter Human Prolactin Gene.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pituitary hormone deficiency, combined, 1 MedGen: C2751608 OMIM: 613038 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of POU class 1 homeobox 1 (POU1F1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

POU1F1 (e-PCR)
- UniSTS:506146

RH17368 (e-PCR)
- UniSTS:38210

NoName (e-PCR)
- UniSTS:486235

G67529 (e-PCR)
- UniSTS:206994

G67530 (e-PCR)
- UniSTS:206995

G67531 (e-PCR)
- UniSTS:206996

G67532 (e-PCR)
- UniSTS:206997

G67533 (e-PCR)
- UniSTS:206998

G67534 (e-PCR)
- UniSTS:206999

D3S3933 (e-PCR)
- UniSTS:41134

NoName (e-PCR)
- UniSTS:481989

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables lncRNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adenohypophysis development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pituitary-specific positive transcription factor 1

Names: POU domain, class 1, transcription factor 1; growth hormone factor 1; pituitary transcript factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008225.2 RefSeqGene

Range

5004..22184

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000306.4 → NP_000297.1 pituitary-specific positive transcription factor 1 isoform alpha

See identical proteins and their annotated locations for NP_000297.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) uses an alternate in-frame splice site in the 5' coding region, compared to variant beta, resulting in a shorter protein (isoform alpha).

Source sequence(s)

AC130885, D10216, KF457648

Consensus CDS

CCDS2919.1

UniProtKB/Swiss-Prot

O75757, P28069, Q15132, Q15133, Q9UD34, Q9UEL3

Related

ENSP00000263781.2, ENST00000350375.7

Conserved Domains (2) summary

smart00352
Location:124 → 198

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:217 → 271

Homeobox; Homeobox domain
NM_001122757.3 → NP_001116229.1 pituitary-specific positive transcription factor 1 isoform beta

See identical proteins and their annotated locations for NP_001116229.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta), also known as GHF-2 or PIT-2, represents the longer transcript and encodes the longer isoform (beta).

Source sequence(s)

AC130885, KF457648

Consensus CDS

CCDS46873.1

UniProtKB/Swiss-Prot

P28069

Related

ENSP00000342931.3, ENST00000344265.8

Conserved Domains (2) summary

smart00352
Location:150 → 224

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:243 → 297

Homeobox; Homeobox domain