UniProtKB - P28069 (PIT1_HUMAN)
Protein
Pituitary-specific positive transcription factor 1
Gene
POU1F1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 214 – 273 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- chromatin binding Source: Ensembl
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- RNA polymerase II activating transcription factor binding Source: BHF-UCL
- RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
- RNA polymerase II transcription factor binding Source: UniProtKB
GO - Biological processi
- B cell differentiation Source: Ensembl
- cell fate specification Source: Ensembl
- determination of adult lifespan Source: Ensembl
- negative regulation of cell population proliferation Source: ProtInc
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- positive regulation of cell population proliferation Source: Ensembl
- positive regulation of inositol trisphosphate biosynthetic process Source: Ensembl
- positive regulation of multicellular organism growth Source: Ensembl
- positive regulation of transcription, DNA-templated Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
- regulation of transcription, DNA-templated Source: UniProtKB
- somatotropin secreting cell development Source: Ensembl
- transcription by RNA polymerase II Source: ProtInc
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
SIGNORi | P28069 |
Names & Taxonomyi
Protein namesi | Recommended name: Pituitary-specific positive transcription factor 1Short name: PIT-1 Alternative name(s): Growth hormone factor 1 Short name: GHF-1 |
Gene namesi | Name:POU1F1 Synonyms:GHF1, PIT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9210 POU1F1 |
MIMi | 173110 gene |
neXtProti | NX_P28069 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003777 | 24 | P → L in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893757EnsemblClinVar. | 1 | |
Natural variantiVAR_075530 | 76 | P → 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 Publication | 1 | |
Natural variantiVAR_010574 | 135 | F → C in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893761EnsemblClinVar. | 1 | |
Natural variantiVAR_003778 | 143 | R → Q in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893759EnsemblClinVar. | 1 | |
Natural variantiVAR_003779 | 158 | A → P in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893756EnsemblClinVar. | 1 | |
Natural variantiVAR_063425 | 172 | R → 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 dbSNP:rs104893765EnsemblClinVar. | 1 | |
Natural variantiVAR_010575 | 174 | E → G in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs1207179169Ensembl. | 1 | |
Natural variantiVAR_063426 | 179 | S → 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 dbSNP:rs104893766EnsemblClinVar. | 1 | |
Natural variantiVAR_015260 | 193 | W → R in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893758EnsemblClinVar. | 1 | |
Natural variantiVAR_063427 | 230 | E → 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 dbSNP:rs104893764EnsemblClinVar. | 1 | |
Natural variantiVAR_010576 | 239 | P → S in CPHD1; loss of function. 1 PublicationCorresponds to variant dbSNP:rs104893762EnsemblClinVar. | 1 | |
Natural variantiVAR_075531 | 265 | R → 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 dbSNP:rs780359925Ensembl. | 1 | |
Natural variantiVAR_003781 | 271 | R → W in CPHD1. 4 PublicationsCorresponds to variant dbSNP:rs104893755EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 74 | L → A: No effect on the interaction with ELK1, LHX3 and PITX1. 1 Publication | 1 | |
Mutagenesisi | 75 | T → A: Increases the interaction with LHX3. No effect on the interaction with ELK1. 1 Publication | 1 | |
Mutagenesisi | 76 | P → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication | 1 | |
Mutagenesisi | 77 | C → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication | 1 | |
Mutagenesisi | 78 | L → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 5449 |
MalaCardsi | POU1F1 |
MIMi | 613038 phenotype |
OpenTargetsi | ENSG00000064835 |
Orphaneti | 95494 Combined pituitary hormone deficiencies, genetic forms 226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 231679 Isolated growth hormone deficiency type II |
PharmGKBi | PA33534 |
Miscellaneous databases
Pharosi | P28069 |
Polymorphism and mutation databases
BioMutai | POU1F1 |
DMDMi | 123408 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000100697 | 1 – 291 | Pituitary-specific positive transcription factor 1Add BLAST | 291 |
Proteomic databases
MassIVEi | P28069 |
PeptideAtlasi | P28069 |
PRIDEi | P28069 |
ProteomicsDBi | 54444 [P28069-1] 54445 [P28069-2] |
PTM databases
iPTMneti | P28069 |
PhosphoSitePlusi | P28069 |
Expressioni
Gene expression databases
Bgeei | ENSG00000064835 Expressed in 38 organ(s), highest expression level in pituitary gland |
ExpressionAtlasi | P28069 baseline and differential |
Genevisiblei | P28069 HS |
Organism-specific databases
HPAi | HPA041646 HPA050624 |
Interactioni
Subunit structurei
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
BioGridi | 111445, 15 interactors |
IntActi | P28069, 13 interactors |
MINTi | P28069 |
STRINGi | 9606.ENSP00000342931 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P28069 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 124 – 198 | POU-specificPROSITE-ProRule annotationAdd BLAST | 75 |
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
GeneTreei | ENSGT00940000158913 |
HOGENOMi | HOG000116302 |
InParanoidi | P28069 |
KOi | K09363 |
OMAi | FPEHALS |
OrthoDBi | 797288at2759 |
PhylomeDBi | P28069 |
TreeFami | TF316413 |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
Gene3Di | 1.10.260.40, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR010982 Lambda_DNA-bd_dom_sf IPR015586 Pit_1 IPR013847 POU IPR000327 POU_dom |
PANTHERi | PTHR11636:SF84 PTHR11636:SF84, 1 hit |
Pfami | View protein in Pfam PF00046 Homeodomain, 1 hit PF00157 Pou, 1 hit |
PRINTSi | PR00028 POUDOMAIN |
SMARTi | View protein in SMART SM00389 HOX, 1 hit SM00352 POU, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit SSF47413 SSF47413, 1 hit |
PROSITEi | View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit PS00035 POU_1, 1 hit PS00465 POU_2, 1 hit PS51179 POU_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform B (identifier: P28069-1) [UniParc]FASTAAdd to basket
Also known as: Pit-1B, GHF-1
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YNM5 | H0YNM5_HUMAN | POU domain protein | POU1F1 | 216 | Annotation score: | ||
H0YK06 | H0YK06_HUMAN | Pituitary-specific positive transcr... | POU1F1 | 169 | Annotation score: |
Sequence cautioni
The sequence CAA54440 differs from that shown. Reason: Erroneous gene model prediction.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003776 | 4 | Q → R1 PublicationCorresponds to variant dbSNP:rs1051612Ensembl. | 1 | |
Natural variantiVAR_049361 | 19 | A → V. Corresponds to variant dbSNP:rs35182189Ensembl. | 1 | |
Natural variantiVAR_003777 | 24 | P → L in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893757EnsemblClinVar. | 1 | |
Natural variantiVAR_075530 | 76 | P → 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 Publication | 1 | |
Natural variantiVAR_010574 | 135 | F → C in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893761EnsemblClinVar. | 1 | |
Natural variantiVAR_003778 | 143 | R → Q in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893759EnsemblClinVar. | 1 | |
Natural variantiVAR_003779 | 158 | A → P in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893756EnsemblClinVar. | 1 | |
Natural variantiVAR_063425 | 172 | R → 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 dbSNP:rs104893765EnsemblClinVar. | 1 | |
Natural variantiVAR_010575 | 174 | E → G in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs1207179169Ensembl. | 1 | |
Natural variantiVAR_063426 | 179 | S → 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 dbSNP:rs104893766EnsemblClinVar. | 1 | |
Natural variantiVAR_015260 | 193 | W → R in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893758EnsemblClinVar. | 1 | |
Natural variantiVAR_003780 | 227 | D → Y1 PublicationCorresponds to variant dbSNP:rs1131815Ensembl. | 1 | |
Natural variantiVAR_063427 | 230 | E → 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 dbSNP:rs104893764EnsemblClinVar. | 1 | |
Natural variantiVAR_010576 | 239 | P → S in CPHD1; loss of function. 1 PublicationCorresponds to variant dbSNP:rs104893762EnsemblClinVar. | 1 | |
Natural variantiVAR_075531 | 265 | R → 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 dbSNP:rs780359925Ensembl. | 1 | |
Natural variantiVAR_003781 | 271 | R → W in CPHD1. 4 PublicationsCorresponds to variant dbSNP:rs104893755EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002314 | 47 | T → TVPSILSLIQTPKCLCTHFS VTTLGNT in isoform A. Curated | 1 |
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 |
CCDSi | CCDS2919.1 [P28069-1] CCDS46873.1 [P28069-2] |
PIRi | S18718 |
RefSeqi | NP_000297.1, NM_000306.3 [P28069-1] NP_001116229.1, NM_001122757.2 [P28069-2] |
Genome annotation databases
Ensembli | ENST00000344265; ENSP00000342931; ENSG00000064835 [P28069-2] ENST00000350375; ENSP00000263781; ENSG00000064835 [P28069-1] |
GeneIDi | 5449 |
KEGGi | hsa:5449 |
UCSCi | uc003dqq.2 human [P28069-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS2919.1 [P28069-1] CCDS46873.1 [P28069-2] |
PIRi | S18718 |
RefSeqi | NP_000297.1, NM_000306.3 [P28069-1] NP_001116229.1, NM_001122757.2 [P28069-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5WC9 | X-ray | 3.15 | A/B/E/F | 124-273 | [»] | |
SMRi | P28069 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 111445, 15 interactors |
IntActi | P28069, 13 interactors |
MINTi | P28069 |
STRINGi | 9606.ENSP00000342931 |
PTM databases
iPTMneti | P28069 |
PhosphoSitePlusi | P28069 |
Polymorphism and mutation databases
BioMutai | POU1F1 |
DMDMi | 123408 |
Proteomic databases
MassIVEi | P28069 |
PeptideAtlasi | P28069 |
PRIDEi | P28069 |
ProteomicsDBi | 54444 [P28069-1] 54445 [P28069-2] |
Protocols and materials databases
DNASUi | 5449 |
Genome annotation databases
Ensembli | ENST00000344265; ENSP00000342931; ENSG00000064835 [P28069-2] ENST00000350375; ENSP00000263781; ENSG00000064835 [P28069-1] |
GeneIDi | 5449 |
KEGGi | hsa:5449 |
UCSCi | uc003dqq.2 human [P28069-1] |
Organism-specific databases
CTDi | 5449 |
DisGeNETi | 5449 |
GeneCardsi | POU1F1 |
HGNCi | HGNC:9210 POU1F1 |
HPAi | HPA041646 HPA050624 |
MalaCardsi | POU1F1 |
MIMi | 173110 gene 613038 phenotype |
neXtProti | NX_P28069 |
OpenTargetsi | ENSG00000064835 |
Orphaneti | 95494 Combined pituitary hormone deficiencies, genetic forms 226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 231679 Isolated growth hormone deficiency type II |
PharmGKBi | PA33534 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00940000158913 |
HOGENOMi | HOG000116302 |
InParanoidi | P28069 |
KOi | K09363 |
OMAi | FPEHALS |
OrthoDBi | 797288at2759 |
PhylomeDBi | P28069 |
TreeFami | TF316413 |
Enzyme and pathway databases
SIGNORi | P28069 |
Miscellaneous databases
GeneWikii | Pituitary-specific_positive_transcription_factor_1 |
GenomeRNAii | 5449 |
Pharosi | P28069 |
PROi | PR:P28069 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000064835 Expressed in 38 organ(s), highest expression level in pituitary gland |
ExpressionAtlasi | P28069 baseline and differential |
Genevisiblei | P28069 HS |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
Gene3Di | 1.10.260.40, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR010982 Lambda_DNA-bd_dom_sf IPR015586 Pit_1 IPR013847 POU IPR000327 POU_dom |
PANTHERi | PTHR11636:SF84 PTHR11636:SF84, 1 hit |
Pfami | View protein in Pfam PF00046 Homeodomain, 1 hit PF00157 Pou, 1 hit |
PRINTSi | PR00028 POUDOMAIN |
SMARTi | View protein in SMART SM00389 HOX, 1 hit SM00352 POU, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit SSF47413 SSF47413, 1 hit |
PROSITEi | View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit PS00035 POU_1, 1 hit PS00465 POU_2, 1 hit PS51179 POU_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIT1_HUMAN | |
Accessioni | P28069Primary (citable) accession number: P28069 Secondary accession number(s): O75757 Q9UEL3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1992 |
Last sequence update: | August 1, 1992 | |
Last modified: | November 13, 2019 | |
This is version 200 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references