PIT1_MOUSE
ID PIT1_MOUSE Reviewed; 291 AA.
AC Q00286;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-1992, sequence version 1.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Pituitary-specific positive transcription factor 1;
DE Short=PIT-1;
DE AltName: Full=Growth hormone factor 1;
DE Short=GHF-1;
GN Name=Pou1f1; Synonyms=Pit-1, Pit1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT DW CYS-261, AND DISEASE.
RX PubMed=1977085; DOI=10.1038/347528a0;
RA Li S., Crenshaw E.B. III, Rawson E.J., Simmons D.M., Swanson L.W.,
RA Rosenfeld M.G.;
RT "Dwarf locus mutants lacking three pituitary cell types result from
RT mutations in the POU-domain gene pit-1.";
RL Nature 347:528-533(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pituitary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP ALTERNATIVE SPLICING (ISOFORM 3).
RC TISSUE=Pituitary;
RX PubMed=1561093; DOI=10.1093/nar/20.6.1355;
RA Morris A.E., Kloss B., McChesney R.E., Bancroft C., Chasin L.A.;
RT "An alternatively spliced Pit-1 isoform altered in its ability to trans-
RT activate.";
RL Nucleic Acids Res. 20:1355-1361(1992).
RN [4]
RP ALTERNATIVE SPLICING (ISOFORM 2).
RX PubMed=8407911; DOI=10.1016/s0021-9258(19)36858-9;
RA Haugen B.R., Wood W.M., Gordon D.F., Ridgway E.C.;
RT "A thyrotrope-specific variant of Pit-1 transactivates the thyrotropin beta
RT promoter.";
RL J. Biol. Chem. 268:20818-20824(1993).
CC -!- FUNCTION: Transcription factor involved in the specification of the
CC lactotrope, somatotrope, and thyrotrope phenotypes in the developing
CC anterior pituitary. Activates growth hormone and prolactin genes.
CC Specifically binds to the consensus sequence 5'-TAAAT-3'.
CC {ECO:0000250|UniProtKB:P28069}.
CC -!- SUBUNIT: Interacts with PITX1. Interacts with LHX3. Interacts with
CC ELK1. {ECO:0000250|UniProtKB:P28069}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P28069}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=Pit-1;
CC IsoId=Q00286-1; Sequence=Displayed;
CC Name=2; Synonyms=Pit-1T;
CC IsoId=Q00286-2; Sequence=VSP_012550;
CC Name=3; Synonyms=Pit-1a, Pit-1 beta;
CC IsoId=Q00286-3; Sequence=VSP_012551;
CC -!- DOMAIN: The 9aaTAD motif is a transactivation domain present in a large
CC number of yeast and animal transcription factors.
CC {ECO:0000250|UniProtKB:P28069}.
CC -!- DISEASE: Note=Defects in Pou1f1 are the cause of the dwarf (dw)
CC phenotype which interrupts the normal development of the anterior
CC pituitary gland, resulting in the loss of expression of growth hormone,
CC prolactin and thyroid-stimulating hormone, and hypoplasia of their
CC respective cell types. {ECO:0000269|PubMed:1977085}.
CC -!- MISCELLANEOUS: [Isoform 3]: Unable to transactivate. Only about 1/7 as
CC abundant as isoform 1. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the POU transcription factor family. Class-1
CC subfamily. {ECO:0000305}.
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DR EMBL; D12885; BAA02289.1; -; mRNA.
DR EMBL; X57512; CAA40737.1; -; mRNA.
DR EMBL; BC061213; AAH61213.1; -; mRNA.
DR CCDS; CCDS57033.1; -. [Q00286-1]
DR PIR; S11663; S11663.
DR RefSeq; NP_032875.1; NM_008849.4. [Q00286-1]
DR AlphaFoldDB; Q00286; -.
DR SMR; Q00286; -.
DR DIP; DIP-60278N; -.
DR IntAct; Q00286; 1.
DR STRING; 10090.ENSMUSP00000004964; -.
DR PhosphoSitePlus; Q00286; -.
DR PaxDb; Q00286; -.
DR PRIDE; Q00286; -.
DR Antibodypedia; 15685; 89 antibodies from 19 providers.
DR DNASU; 18736; -.
DR Ensembl; ENSMUST00000176330; ENSMUSP00000135113; ENSMUSG00000004842. [Q00286-1]
DR GeneID; 18736; -.
DR KEGG; mmu:18736; -.
DR UCSC; uc007zqi.1; mouse. [Q00286-1]
DR CTD; 5449; -.
DR MGI; MGI:97588; Pou1f1.
DR VEuPathDB; HostDB:ENSMUSG00000004842; -.
DR eggNOG; KOG3802; Eukaryota.
DR GeneTree; ENSGT00940000158913; -.
DR HOGENOM; CLU_882684_0_0_1; -.
DR InParanoid; Q00286; -.
DR OMA; ATYGMMT; -.
DR OrthoDB; 797288at2759; -.
DR PhylomeDB; Q00286; -.
DR BioGRID-ORCS; 18736; 2 hits in 72 CRISPR screens.
DR ChiTaRS; Pou1f1; mouse.
DR PRO; PR:Q00286; -.
DR Proteomes; UP000000589; Chromosome 16.
DR RNAct; Q00286; protein.
DR Bgee; ENSMUSG00000004842; Expressed in female urethra and 8 other tissues.
DR ExpressionAtlas; Q00286; baseline and differential.
DR Genevisible; Q00286; MM.
DR GO; GO:0000785; C:chromatin; ISO:MGI.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0005667; C:transcription regulator complex; IC:MGI.
DR GO; GO:0003682; F:chromatin binding; IDA:MGI.
DR GO; GO:0003677; F:DNA binding; IDA:MGI.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:MGI.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0106222; F:lncRNA binding; ISO:MGI.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISO:MGI.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; ISO:MGI.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0021984; P:adenohypophysis development; ISO:MGI.
DR GO; GO:0030183; P:B cell differentiation; IMP:MGI.
DR GO; GO:0001708; P:cell fate specification; IDA:MGI.
DR GO; GO:0008283; P:cell population proliferation; IMP:MGI.
DR GO; GO:0008340; P:determination of adult lifespan; IMP:MGI.
DR GO; GO:0032959; P:inositol trisphosphate biosynthetic process; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISO:MGI.
DR GO; GO:0021983; P:pituitary gland development; IMP:MGI.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:MGI.
DR GO; GO:0032962; P:positive regulation of inositol trisphosphate biosynthetic process; IMP:MGI.
DR GO; GO:0040018; P:positive regulation of multicellular organism growth; IMP:MGI.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:MGI.
DR GO; GO:0043567; P:regulation of insulin-like growth factor receptor signaling pathway; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; ISO:MGI.
DR GO; GO:0060133; P:somatotropin secreting cell development; IMP:MGI.
DR GO; GO:0060126; P:somatotropin secreting cell differentiation; IMP:MGI.
DR CDD; cd00086; homeodomain; 1.
DR Gene3D; 1.10.260.40; -; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR010982; Lambda_DNA-bd_dom_sf.
DR InterPro; IPR015586; Pit_1.
DR InterPro; IPR013847; POU.
DR InterPro; IPR000327; POU_dom.
DR PANTHER; PTHR11636:SF84; PTHR11636:SF84; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00157; Pou; 1.
DR PRINTS; PR00028; POUDOMAIN.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00352; POU; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR SUPFAM; SSF47413; SSF47413; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00035; POU_1; 1.
DR PROSITE; PS00465; POU_2; 1.
DR PROSITE; PS51179; POU_3; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Disease variant; DNA-binding; Homeobox;
KW Nucleus; Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..291
FT /note="Pituitary-specific positive transcription factor 1"
FT /id="PRO_0000100699"
FT DOMAIN 124..198
FT /note="POU-specific"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00530"
FT DNA_BIND 214..273
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT MOTIF 5..13
FT /note="9aaTAD"
FT /evidence="ECO:0000250|UniProtKB:P28069"
FT VAR_SEQ 48
FT /note="A -> GLHTYFSMTTMGNTA (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_012550"
FT VAR_SEQ 48
FT /note="A -> VPSILSLIQTPKCLHTYFSMTTMGNTA (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_012551"
FT VARIANT 261
FT /note="W -> C (in dw)"
FT /evidence="ECO:0000269|PubMed:1977085"
SQ SEQUENCE 291 AA; 32885 MW; E2C265F4353E84C5 CRC64;
MSCQSFTSAD TFITLNSDAS AALPLRMHHS AAECLPASNH ATNVMSTATG LHYSVPSCHY
GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPLHQPLLAE DPAASEFKQE LRRKSKLVEE
PIDMDSPEIR ELEQFANEFK VRRIKLGYTQ TNVGEALAAV HGSEFSQTTI CRFENLQLSF
KNACKLKAIL SKWLEEAEQV GALYNEKVGA NERKRKRRTT ISVAAKDALE RHFGEHSKPS
SQEIMRMAEE LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R
