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Q00286

- PIT1_MOUSE

UniProt

Q00286 - PIT1_MOUSE

Protein

Pituitary-specific positive transcription factor 1

Gene

Pou1f1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 Dec 1992)
      Previous versions | rss
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    Functioni

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi214 – 27360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: MGI
    2. DNA binding Source: MGI
    3. protein binding Source: MGI
    4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: MGI
    5. RNA polymerase II transcription coactivator activity Source: Ensembl
    6. sequence-specific DNA binding Source: MGI
    7. sequence-specific DNA binding transcription factor activity Source: MGI
    8. transcription corepressor activity Source: Ensembl
    9. transcription factor binding Source: MGI

    GO - Biological processi

    1. B cell differentiation Source: MGI
    2. cell fate specification Source: MGI
    3. determination of adult lifespan Source: MGI
    4. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    5. nuclear transport Source: Ensembl
    6. pituitary gland development Source: MGI
    7. positive regulation of cell proliferation Source: MGI
    8. positive regulation of inositol trisphosphate biosynthetic process Source: MGI
    9. positive regulation of multicellular organism growth Source: MGI
    10. positive regulation of transcription, DNA-templated Source: MGI
    11. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    12. regulation of insulin-like growth factor receptor signaling pathway Source: MGI
    13. somatotropin secreting cell development Source: MGI
    14. somatotropin secreting cell differentiation Source: MGI

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    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:Pit-1, Pit1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 16

    Organism-specific databases

    MGIiMGI:97588. Pou1f1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. nucleus Source: MGI
    3. transcription factor complex Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Pou1f1 are the cause of the dwarf (dw) phenotype which interrupts the normal development of the anterior pituitary gland, resulting in the loss of expression of growth hormone, prolactin and thyroid-stimulating hormone, and hypoplasia of their respective cell types.

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 291291Pituitary-specific positive transcription factor 1PRO_0000100699Add
    BLAST

    Proteomic databases

    PRIDEiQ00286.

    PTM databases

    PhosphoSiteiQ00286.

    Expressioni

    Gene expression databases

    BgeeiQ00286.
    GenevestigatoriQ00286.

    Interactioni

    Protein-protein interaction databases

    DIPiDIP-60278N.
    STRINGi10090.ENSMUSP00000004964.

    Structurei

    3D structure databases

    ProteinModelPortaliQ00286.
    SMRiQ00286. Positions 129-273.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini124 – 19875POU-specificPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG241031.
    GeneTreeiENSGT00730000110809.
    HOGENOMiHOG000116302.
    HOVERGENiHBG053120.
    KOiK09363.
    OrthoDBiEOG7DJSMG.
    PhylomeDBiQ00286.

    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_specific.
    [Graphical view]
    PANTHERiPTHR11636:SF82. PTHR11636:SF82. 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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q00286-1) [UniParc]FASTAAdd to Basket

    Also known as: Pit-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

    MSCQSFTSAD TFITLNSDAS AALPLRMHHS AAECLPASNH ATNVMSTATG    50
    LHYSVPSCHY GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPLHQPLLAE 100
    DPAASEFKQE LRRKSKLVEE PIDMDSPEIR ELEQFANEFK VRRIKLGYTQ 150
    TNVGEALAAV HGSEFSQTTI CRFENLQLSF KNACKLKAIL SKWLEEAEQV 200
    GALYNEKVGA NERKRKRRTT ISVAAKDALE RHFGEHSKPS SQEIMRMAEE 250
    LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R 291
    Length:291
    Mass (Da):32,885
    Last modified:December 1, 1992 - v1
    Checksum:iE2C265F4353E84C5
    GO
    Isoform 2 (identifier: Q00286-2) [UniParc]FASTAAdd to Basket

    Also known as: Pit-1T

    The sequence of this isoform differs from the canonical sequence as follows:
         48-48: A → GLHTYFSMTTMGNTA

    Show »
    Length:305
    Mass (Da):34,428
    Checksum:i965F1066F30DDE0B
    GO
    Isoform 3 (identifier: Q00286-3) [UniParc]FASTAAdd to Basket

    Also known as: Pit-1a, Pit-1 beta

    The sequence of this isoform differs from the canonical sequence as follows:
         48-48: A → VPSILSLIQTPKCLHTYFSMTTMGNTA

    Note: Unable to transactivate. Only about 1/7 as abundant as isoform 1.

    Show »
    Length:317
    Mass (Da):35,752
    Checksum:i5AE06A891EFBB18B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti261 – 2611W → C in dw. 1 Publication

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei48 – 481A → GLHTYFSMTTMGNTA in isoform 2. CuratedVSP_012550
    Alternative sequencei48 – 481A → VPSILSLIQTPKCLHTYFSM TTMGNTA in isoform 3. CuratedVSP_012551

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D12885 mRNA. Translation: BAA02289.1.
    X57512 mRNA. Translation: CAA40737.1.
    BC061213 mRNA. Translation: AAH61213.1.
    CCDSiCCDS57033.1. [Q00286-1]
    PIRiS11663.
    RefSeqiNP_032875.1. NM_008849.4. [Q00286-1]
    UniGeneiMm.355440.

    Genome annotation databases

    EnsembliENSMUST00000176330; ENSMUSP00000135113; ENSMUSG00000004842. [Q00286-1]
    GeneIDi18736.
    KEGGimmu:18736.
    UCSCiuc007zqi.1. mouse. [Q00286-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D12885 mRNA. Translation: BAA02289.1 .
    X57512 mRNA. Translation: CAA40737.1 .
    BC061213 mRNA. Translation: AAH61213.1 .
    CCDSi CCDS57033.1. [Q00286-1 ]
    PIRi S11663.
    RefSeqi NP_032875.1. NM_008849.4. [Q00286-1 ]
    UniGenei Mm.355440.

    3D structure databases

    ProteinModelPortali Q00286.
    SMRi Q00286. Positions 129-273.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60278N.
    STRINGi 10090.ENSMUSP00000004964.

    PTM databases

    PhosphoSitei Q00286.

    Proteomic databases

    PRIDEi Q00286.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000176330 ; ENSMUSP00000135113 ; ENSMUSG00000004842 . [Q00286-1 ]
    GeneIDi 18736.
    KEGGi mmu:18736.
    UCSCi uc007zqi.1. mouse. [Q00286-1 ]

    Organism-specific databases

    CTDi 5449.
    MGIi MGI:97588. Pou1f1.

    Phylogenomic databases

    eggNOGi NOG241031.
    GeneTreei ENSGT00730000110809.
    HOGENOMi HOG000116302.
    HOVERGENi HBG053120.
    KOi K09363.
    OrthoDBi EOG7DJSMG.
    PhylomeDBi Q00286.

    Miscellaneous databases

    NextBioi 294867.
    PROi Q00286.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q00286.
    Genevestigatori Q00286.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    1.10.260.40. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    IPR015586. Pit_1.
    IPR013847. POU.
    IPR000327. POU_specific.
    [Graphical view ]
    PANTHERi PTHR11636:SF82. PTHR11636:SF82. 1 hit.
    Pfami PF00046. Homeobox. 1 hit.
    PF00157. Pou. 1 hit.
    [Graphical view ]
    PRINTSi PR00028. POUDOMAIN.
    SMARTi SM00389. HOX. 1 hit.
    SM00352. POU. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 1 hit.
    PROSITEi 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1."
      Li S., Crenshaw E.B. III, Rawson E.J., Simmons D.M., Swanson L.W., Rosenfeld M.G.
      Nature 347:528-533(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT DW CYS-261.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Pituitary.
    3. "An alternatively spliced Pit-1 isoform altered in its ability to trans-activate."
      Morris A.E., Kloss B., McChesney R.E., Bancroft C., Chasin L.A.
      Nucleic Acids Res. 20:1355-1361(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 3).
      Tissue: Pituitary.
    4. "A thyrotrope-specific variant of Pit-1 transactivates the thyrotropin beta promoter."
      Haugen B.R., Wood W.M., Gordon D.F., Ridgway E.C.
      J. Biol. Chem. 268:20818-20824(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 2).

    Entry informationi

    Entry nameiPIT1_MOUSE
    AccessioniPrimary (citable) accession number: Q00286
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 1992
    Last sequence update: December 1, 1992
    Last modified: October 1, 2014
    This is version 140 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3