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Protein

Pituitary-specific positive transcription factor 1

Gene

POU1F1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi214 – 273HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064835-MONOMER.
SIGNORiP28069.

Names & Taxonomyi

Protein namesi
Recommended name:
Pituitary-specific positive transcription factor 1
Short name:
PIT-1
Alternative name(s):
Growth hormone factor 1
Short name:
GHF-1
Gene namesi
Name:POU1F1
Synonyms:GHF1, PIT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:9210. POU1F1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Pituitary hormone deficiency, combined, 1 (CPHD1)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCombined 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.
See also OMIM:613038
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00377724P → L in CPHD1. 1 PublicationCorresponds to variant rs104893757dbSNPEnsembl.1
Natural variantiVAR_07553076P → L in CPHD1; reduces transactivation capacity on the GH1 gene, increases the functional binding on the GH1 promoter, increases the interaction with ELK1, LHX3 and PITX1. 1 Publication1
Natural variantiVAR_010574135F → C in CPHD1. 1 PublicationCorresponds to variant rs104893761dbSNPEnsembl.1
Natural variantiVAR_003778143R → Q in CPHD1. 1 PublicationCorresponds to variant rs104893759dbSNPEnsembl.1
Natural variantiVAR_003779158A → P in CPHD1. 1 PublicationCorresponds to variant rs104893756dbSNPEnsembl.1
Natural variantiVAR_063425172R → Q in CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant rs104893765dbSNPEnsembl.1
Natural variantiVAR_010575174E → G in CPHD1. 1 Publication1
Natural variantiVAR_063426179S → R in CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1, PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. 1 PublicationCorresponds to variant rs104893766dbSNPEnsembl.1
Natural variantiVAR_015260193W → R in CPHD1. 1 PublicationCorresponds to variant rs104893758dbSNPEnsembl.1
Natural variantiVAR_063427230E → K in CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant rs104893764dbSNPEnsembl.1
Natural variantiVAR_010576239P → S in CPHD1; loss of function. 1 PublicationCorresponds to variant rs104893762dbSNPEnsembl.1
Natural variantiVAR_075531265R → W in CPHD1; found in a compound heterozygote also carrying an intragenic frameshift deletion, reduces transactivation capacity on the PRL gene, increases instability of the protein. 1 PublicationCorresponds to variant rs780359925dbSNPEnsembl.1
Natural variantiVAR_003781271R → W in CPHD1. 4 PublicationsCorresponds to variant rs104893755dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi74L → A: No effect on the interaction with ELK1, LHX3 and PITX1. 1 Publication1
Mutagenesisi75T → A: Increases the interaction with LHX3. No effect on the interaction with ELK1. 1 Publication1
Mutagenesisi76P → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication1
Mutagenesisi77C → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication1
Mutagenesisi78L → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi5449.
MalaCardsiPOU1F1.
MIMi613038. phenotype.
OpenTargetsiENSG00000064835.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
PharmGKBiPA33534.

Polymorphism and mutation databases

BioMutaiPOU1F1.
DMDMi123408.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001006971 – 291Pituitary-specific positive transcription factor 1Add BLAST291

Proteomic databases

PRIDEiP28069.

PTM databases

iPTMnetiP28069.
PhosphoSitePlusiP28069.

Expressioni

Gene expression databases

BgeeiENSG00000064835.
CleanExiHS_POU1F1.
ExpressionAtlasiP28069. baseline and differential.
GenevisibleiP28069. HS.

Organism-specific databases

HPAiHPA041646.

Interactioni

Subunit structurei

Interacts with PITX1 (PubMed:26612202). Interacts with LHX3 (PubMed:26612202). Interacts with ELK1 (PubMed:26612202).1 Publication

GO - Molecular functioni

  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111445. 15 interactors.
IntActiP28069. 2 interactors.
MINTiMINT-1521664.

Structurei

3D structure databases

ProteinModelPortaliP28069.
SMRiP28069.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini124 – 198POU-specificPROSITE-ProRule annotationAdd BLAST75

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116302.
HOVERGENiHBG053120.
InParanoidiP28069.
KOiK09363.
OMAiACKLKSI.
OrthoDBiEOG091G0U0S.
PhylomeDBiP28069.
TreeFamiTF316413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR015586. Pit_1.
IPR013847. POU.
IPR000327. POU_dom.
[Graphical view]
PANTHERiPTHR11636:SF84. PTHR11636:SF84. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform B (identifier: P28069-1) [UniParc]FASTAAdd to basket
Also known as: Pit-1B, GHF-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSCQAFTSAD TFIPLNSDAS ATLPLIMHHS AAECLPVSNH ATNVMSTATG
60 70 80 90 100
LHYSVPSCHY GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPIHQPLLAE
110 120 130 140 150
DPTAADFKQE LRRKSKLVEE PIDMDSPEIR ELEKFANEFK VRRIKLGYTQ
160 170 180 190 200
TNVGEALAAV HGSEFSQTTI CRFENLQLSF KNACKLKAIL SKWLEEAEQV
210 220 230 240 250
GALYNEKVGA NERKRKRRTT ISIAAKDALE RHFGEQNKPS SQEIMRMAEE
260 270 280 290
LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R
Length:291
Mass (Da):32,912
Last modified:August 1, 1992 - v1
Checksum:i0866777E3E425873
GO
Isoform A (identifier: P28069-2) [UniParc]FASTAAdd to basket
Also known as: Pit-1A, GHF-2

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: T → TVPSILSLIQTPKCLCTHFSVTTLGNT

Note: Altered in its ability to trans-activate compared to isoform B.
Show »
Length:317
Mass (Da):35,669
Checksum:i3982D139208D46FD
GO

Sequence cautioni

The sequence CAA54440 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0037764Q → R.1 PublicationCorresponds to variant rs1051612dbSNPEnsembl.1
Natural variantiVAR_04936119A → V.Corresponds to variant rs35182189dbSNPEnsembl.1
Natural variantiVAR_00377724P → L in CPHD1. 1 PublicationCorresponds to variant rs104893757dbSNPEnsembl.1
Natural variantiVAR_07553076P → L in CPHD1; reduces transactivation capacity on the GH1 gene, increases the functional binding on the GH1 promoter, increases the interaction with ELK1, LHX3 and PITX1. 1 Publication1
Natural variantiVAR_010574135F → C in CPHD1. 1 PublicationCorresponds to variant rs104893761dbSNPEnsembl.1
Natural variantiVAR_003778143R → Q in CPHD1. 1 PublicationCorresponds to variant rs104893759dbSNPEnsembl.1
Natural variantiVAR_003779158A → P in CPHD1. 1 PublicationCorresponds to variant rs104893756dbSNPEnsembl.1
Natural variantiVAR_063425172R → Q in CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant rs104893765dbSNPEnsembl.1
Natural variantiVAR_010575174E → G in CPHD1. 1 Publication1
Natural variantiVAR_063426179S → R in CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1, PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. 1 PublicationCorresponds to variant rs104893766dbSNPEnsembl.1
Natural variantiVAR_015260193W → R in CPHD1. 1 PublicationCorresponds to variant rs104893758dbSNPEnsembl.1
Natural variantiVAR_003780227D → Y.1 PublicationCorresponds to variant rs1131815dbSNPEnsembl.1
Natural variantiVAR_063427230E → K in CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant rs104893764dbSNPEnsembl.1
Natural variantiVAR_010576239P → S in CPHD1; loss of function. 1 PublicationCorresponds to variant rs104893762dbSNPEnsembl.1
Natural variantiVAR_075531265R → W in CPHD1; found in a compound heterozygote also carrying an intragenic frameshift deletion, reduces transactivation capacity on the PRL gene, increases instability of the protein. 1 PublicationCorresponds to variant rs780359925dbSNPEnsembl.1
Natural variantiVAR_003781271R → W in CPHD1. 4 PublicationsCorresponds to variant rs104893755dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00231447T → TVPSILSLIQTPKCLCTHFS VTTLGNT in isoform A. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L18781 mRNA. Translation: AAA60093.1.
X62429 mRNA. Translation: CAA44295.1.
D10216 mRNA. Translation: BAA01068.1.
X72215 mRNA. Translation: CAA51017.1.
D12892 Genomic DNA. Translation: BAA02291.1.
X77223, X77224 Genomic DNA. Translation: CAA54440.2. Sequence problems.
X77223, X77224 Genomic DNA. Translation: CAA54441.1.
D11333 Genomic DNA. Translation: BAA34536.1.
CCDSiCCDS2919.1. [P28069-1]
CCDS46873.1. [P28069-2]
PIRiS18718.
RefSeqiNP_000297.1. NM_000306.3. [P28069-1]
NP_001116229.1. NM_001122757.2. [P28069-2]
UniGeneiHs.591654.

Genome annotation databases

EnsembliENST00000344265; ENSP00000342931; ENSG00000064835. [P28069-2]
ENST00000350375; ENSP00000263781; ENSG00000064835. [P28069-1]
GeneIDi5449.
KEGGihsa:5449.
UCSCiuc003dqq.2. human. [P28069-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L18781 mRNA. Translation: AAA60093.1.
X62429 mRNA. Translation: CAA44295.1.
D10216 mRNA. Translation: BAA01068.1.
X72215 mRNA. Translation: CAA51017.1.
D12892 Genomic DNA. Translation: BAA02291.1.
X77223, X77224 Genomic DNA. Translation: CAA54440.2. Sequence problems.
X77223, X77224 Genomic DNA. Translation: CAA54441.1.
D11333 Genomic DNA. Translation: BAA34536.1.
CCDSiCCDS2919.1. [P28069-1]
CCDS46873.1. [P28069-2]
PIRiS18718.
RefSeqiNP_000297.1. NM_000306.3. [P28069-1]
NP_001116229.1. NM_001122757.2. [P28069-2]
UniGeneiHs.591654.

3D structure databases

ProteinModelPortaliP28069.
SMRiP28069.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111445. 15 interactors.
IntActiP28069. 2 interactors.
MINTiMINT-1521664.

PTM databases

iPTMnetiP28069.
PhosphoSitePlusiP28069.

Polymorphism and mutation databases

BioMutaiPOU1F1.
DMDMi123408.

Proteomic databases

PRIDEiP28069.

Protocols and materials databases

DNASUi5449.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344265; ENSP00000342931; ENSG00000064835. [P28069-2]
ENST00000350375; ENSP00000263781; ENSG00000064835. [P28069-1]
GeneIDi5449.
KEGGihsa:5449.
UCSCiuc003dqq.2. human. [P28069-1]

Organism-specific databases

CTDi5449.
DisGeNETi5449.
GeneCardsiPOU1F1.
HGNCiHGNC:9210. POU1F1.
HPAiHPA041646.
MalaCardsiPOU1F1.
MIMi173110. gene.
613038. phenotype.
neXtProtiNX_P28069.
OpenTargetsiENSG00000064835.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
PharmGKBiPA33534.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116302.
HOVERGENiHBG053120.
InParanoidiP28069.
KOiK09363.
OMAiACKLKSI.
OrthoDBiEOG091G0U0S.
PhylomeDBiP28069.
TreeFamiTF316413.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064835-MONOMER.
SIGNORiP28069.

Miscellaneous databases

GeneWikiiPituitary-specific_positive_transcription_factor_1.
GenomeRNAii5449.
PROiP28069.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064835.
CleanExiHS_POU1F1.
ExpressionAtlasiP28069. baseline and differential.
GenevisibleiP28069. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR015586. Pit_1.
IPR013847. POU.
IPR000327. POU_dom.
[Graphical view]
PANTHERiPTHR11636:SF84. PTHR11636:SF84. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPIT1_HUMAN
AccessioniPrimary (citable) accession number: P28069
Secondary accession number(s): O75757
, Q15132, Q15133, Q9UD34, Q9UEL3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: November 30, 2016
This is version 173 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.