Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

POU1F1

Aliases

CPHD1, GHF-1, PIT1, POU1F1a, Pit-1

Entrez Gene ID

5449

Gene Name

POU class 1 homeobox 1

Chromosomal Location

3p11.2

HGNC ID

9210

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]

RefSeq DNA

NG_008225.2

RefSeq mRNA

NM_001122757.3, NM_000306.4

e!Ensembl

Gene	ENSG00000064835
Transcript	ENST00000350375, ENST00000344265, ENST00000561167, ENST00000560656
Protein	ENSP00000263781, ENSP00000342931, ENSP00000454072, ENSP00000452610

SNPs

SNP	SNP ID	Associated disease	References
10C>T(Q4*)		Central Precocious Puberty (CPP)	30460459
I244S		Central Precocious Puberty (CPP)	30460459

Gene Ontology (GO)

Show/Hide all(15 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IDA	11301317
GO:0008285	Biological process	Negative regulation of cell proliferation	TAS	9392392
GO:0030154	Biological process	Cell differentiation	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	9482665, 9685346, 26612202
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	26612202
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	9685346, 26612202
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0001085	Molecular function	RNA polymerase II transcription factor binding	IPI	26612202
GO:0001102	Molecular function	RNA polymerase II activating transcription factor binding	IPI	9685346, 12612071
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	21873635
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	9482665, 11301317
GO:0005515	Molecular function	Protein binding	IPI	32296183
GO:1990837	Molecular function	Sequence-specific double-stranded DNA binding	IDA	28473536

Protein Information

Protein Name

Pituitary-specific positive transcription factor 1, POU domain, class 1, transcription factor 1, growth hormone factor 1, pituitary transcript factor 1

Function

Refseq Proteins

NP_001116229.1, NP_000297.1

UniProt

P28069

PDB

5WC9