Pou1f1
Gene Detail

Symbol Name ID

Pou1f1 POU domain, class 1, transcription factor 1 MGI:97588

Synonyms

GHF-1, Hmp1, Pit1, Pit-1, Pit1-rs1, Snell dwarf

Feature Type

protein coding gene

Genetic Map

Chromosome 16

37.25 cM
Detailed Genetic Map ± 1 cM


Mapping data(39)

Sequence Map

Chr16:65520512-65534297 bp, + strand From VEGA annotation of GRCm38   13786 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:259  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: transcription factor Pit-1
Gene Tree: Pou1f1

Human homologs

Human Homolog		POU1F1, POU class 1 homeobox 1
NCBI Gene ID		5449
neXtProt AC		NX_P28069
Human Synonyms		CPHD1, GHF-1, Pit-1, PIT1, POU1F1a
Human Chr (Location)		3p11; chr3:87308783-87325737 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human POU1F1

Alleles and phenotypes

All alleles(5) : Targeted(3) Spontaneous(2)
 

Homozygotes for spontaneous mutations exhibit hypoplasia of the anterior pituitary cells resulting in deficiencies in growth hormone, prolactin, and thyroid-stimulating hormone, dwarfism, and sterility.

 
Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (45 annotations)

Process	adenohypophysis development, B cell differentiation, ...
Component	cytoplasm, nucleus, ...
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (54 records)
Data Summary: Results (154)    Tissues (133)    Images (17)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	148
RT-PCR	4

cDNA source data(22)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(33) Genomic(2) cDNA(24) Primer pair(4) Other(3)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000039845 (Evidence)
Ensembl Gene Model	ENSMUSG00000004842 (Evidence)
Entrez Gene	18736 (Evidence)
UniGene	355440
DFCI	TC1587096
DoTS	DT.101350878, DT.55188964
NIA Mouse Gene Index	U017249
Consensus CDS Project	CCDS57033.1
International Mouse Knockout Project Status	Pou1f1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000039845	VEGA Gene Model | MGI Sequence Detail	13786	C57BL/6J
transcript	OTTMUST00000103541	VEGA | MGI Sequence Detail	1174	Not Applicable
polypeptide	OTTMUSP00000057856	VEGA | MGI Sequence Detail	317	Not Applicable

All sequences(30) RefSeq(2) UniProt(4)

Polymorphisms

All PCR and RFLP(9) : PCR(2) RFLP(7) SNPs(129 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
InterPro	IPR010982	Lambda repressor-like, DNA-binding domain
InterPro	IPR015586	Pituitary-specific positive transcription factor 1
InterPro	IPR013847	POU domain
InterPro	IPR000327	POU-specific
Protein Ontology	PR:000013033	pituitary-specific positive transcription factor 1

References

(Earliest) J:13120 Snell GD, DWARF, A NEW MENDELIAN RECESSIVE CHARACTER OF THE HOUSE MOUSE. Proc Natl Acad Sci U S A. 1929 Sep 15;15(9):733-4
(Latest) J:191667 Jayakody SA, et al., SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest. 2012 Oct 1;122(10):3635-46
All references(224)

Other accession IDs

MGD-MRK-13314, MGD-MRK-13315, MGD-MRK-19464, MGD-MRK-8920, MGI:102578