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O75360

- PROP1_HUMAN

UniProt

O75360 - PROP1_HUMAN

Protein

Homeobox protein prophet of Pit-1

Gene

PROP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi69 – 12860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. protein binding Source: IntAct
    3. sequence-specific DNA binding transcription factor activity Source: InterPro
    4. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. blood vessel development Source: Ensembl
    2. canonical Wnt signaling pathway Source: Ensembl
    3. cell migration Source: Ensembl
    4. central nervous system development Source: ProtInc
    5. dorsal/ventral pattern formation Source: Ensembl
    6. hypophysis morphogenesis Source: Ensembl
    7. hypothalamus cell differentiation Source: Ensembl
    8. negative regulation of apoptotic process Source: Ensembl
    9. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. somatotropin secreting cell differentiation Source: Ensembl

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein prophet of Pit-1
    Short name:
    PROP-1
    Alternative name(s):
    Pituitary-specific homeodomain factor
    Gene namesi
    Name:PROP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:9455. PROP1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731R → C in CPHD2; familial; no detectable DNA binding observed with the mutant protein in electromobility shift assays; whereas in vitro translated PROP1 and the mutant proteins were similar in their expression and electrophoretic properties. 3 Publications
    VAR_003768
    Natural varianti73 – 731R → H in CPHD2; familial. 1 Publication
    VAR_012746
    Natural varianti88 – 881F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 Publication
    VAR_063235
    Natural varianti99 – 991R → Q in CPHD2; displays a significant decrease in DNA binding on a paired-box response element (PRDQ9) and trans-activation of a luciferase reporter gene. 1 Publication
    VAR_063236
    Natural varianti117 – 1171F → I in CPHD2; familial. 1 Publication
    VAR_003769
    Natural varianti120 – 1201R → C in CPHD2; familial. 2 Publications
    VAR_003770
    Natural varianti125 – 1251R → W in CPHD2. 1 Publication
    VAR_054973

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi262600. phenotype.
    Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
    226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
    90695. Panhypopituitarism.
    PharmGKBiPA33808.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 226226Homeobox protein prophet of Pit-1PRO_0000049271Add
    BLAST

    Proteomic databases

    PaxDbiO75360.
    PRIDEiO75360.

    PTM databases

    PhosphoSiteiO75360.

    Expressioni

    Tissue specificityi

    Expressed specifically in embryonic pituitary.

    Gene expression databases

    BgeeiO75360.
    CleanExiHS_PROP1.
    GenevestigatoriO75360.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    AESQ081174EBI-9027467,EBI-717810

    Protein-protein interaction databases

    BioGridi111610. 2 interactions.
    IntActiO75360. 9 interactions.
    STRINGi9606.ENSP00000311290.

    Structurei

    3D structure databases

    ProteinModelPortaliO75360.
    SMRiO75360. Positions 71-128.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG293463.
    HOGENOMiHOG000115706.
    HOVERGENiHBG053691.
    InParanoidiO75360.
    KOiK09327.
    OMAiHQSEDWY.
    OrthoDBiEOG7P8P9G.
    PhylomeDBiO75360.
    TreeFamiTF315976.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O75360-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEAERRRQAE KPKKGRVGSN LLPERHPATG TPTTTVDSSA PPCRRLPGAG    50
    GGRSRFSPQG GQRGRPHSRR RHRTTFSPVQ LEQLESAFGR NQYPDIWARE 100
    SLARDTGLSE ARIQVWFQNR RAKQRKQERS LLQPLAHLSP AAFSSFLPES 150
    TACPYSYAAP PPPVTCFPHP YSHALPSQPS TGGAFALSHQ SEDWYPTLHP 200
    APAGHLPCPP PPPMLPLSLE PSKSWN 226
    Length:226
    Mass (Da):24,984
    Last modified:November 2, 2010 - v2
    Checksum:iCE6D59B3D295A86D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201N → S.3 Publications
    Corresponds to variant rs7445271 [ dbSNP | Ensembl ].
    VAR_054972
    Natural varianti73 – 731R → C in CPHD2; familial; no detectable DNA binding observed with the mutant protein in electromobility shift assays; whereas in vitro translated PROP1 and the mutant proteins were similar in their expression and electrophoretic properties. 3 Publications
    VAR_003768
    Natural varianti73 – 731R → H in CPHD2; familial. 1 Publication
    VAR_012746
    Natural varianti88 – 881F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 Publication
    VAR_063235
    Natural varianti99 – 991R → Q in CPHD2; displays a significant decrease in DNA binding on a paired-box response element (PRDQ9) and trans-activation of a luciferase reporter gene. 1 Publication
    VAR_063236
    Natural varianti117 – 1171F → I in CPHD2; familial. 1 Publication
    VAR_003769
    Natural varianti120 – 1201R → C in CPHD2; familial. 2 Publications
    VAR_003770
    Natural varianti125 – 1251R → W in CPHD2. 1 Publication
    VAR_054973
    Natural varianti142 – 1421A → T.
    Corresponds to variant rs1800197 [ dbSNP | Ensembl ].
    VAR_014531

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF076214 Genomic DNA. Translation: AAC77453.1.
    AF076215 mRNA. Translation: AAC77454.1.
    AF041141, AF041139, AF041140 Genomic DNA. Translation: AAC27900.1.
    AC136940 Genomic DNA. No translation available.
    BC069076 mRNA. Translation: AAH69076.1.
    CCDSiCCDS4430.1.
    RefSeqiNP_006252.3. NM_006261.4.
    UniGeneiHs.158301.

    Genome annotation databases

    EnsembliENST00000308304; ENSP00000311290; ENSG00000175325.
    GeneIDi5626.
    KEGGihsa:5626.
    UCSCiuc003mif.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF076214 Genomic DNA. Translation: AAC77453.1 .
    AF076215 mRNA. Translation: AAC77454.1 .
    AF041141 , AF041139 , AF041140 Genomic DNA. Translation: AAC27900.1 .
    AC136940 Genomic DNA. No translation available.
    BC069076 mRNA. Translation: AAH69076.1 .
    CCDSi CCDS4430.1.
    RefSeqi NP_006252.3. NM_006261.4.
    UniGenei Hs.158301.

    3D structure databases

    ProteinModelPortali O75360.
    SMRi O75360. Positions 71-128.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111610. 2 interactions.
    IntActi O75360. 9 interactions.
    STRINGi 9606.ENSP00000311290.

    PTM databases

    PhosphoSitei O75360.

    Proteomic databases

    PaxDbi O75360.
    PRIDEi O75360.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308304 ; ENSP00000311290 ; ENSG00000175325 .
    GeneIDi 5626.
    KEGGi hsa:5626.
    UCSCi uc003mif.1. human.

    Organism-specific databases

    CTDi 5626.
    GeneCardsi GC05M177419.
    GeneReviewsi PROP1.
    HGNCi HGNC:9455. PROP1.
    MIMi 262600. phenotype.
    601538. gene.
    neXtProti NX_O75360.
    Orphaneti 95494. Combined pituitary hormone deficiencies, genetic forms.
    226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
    90695. Panhypopituitarism.
    PharmGKBi PA33808.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293463.
    HOGENOMi HOG000115706.
    HOVERGENi HBG053691.
    InParanoidi O75360.
    KOi K09327.
    OMAi HQSEDWY.
    OrthoDBi EOG7P8P9G.
    PhylomeDBi O75360.
    TreeFami TF315976.

    Miscellaneous databases

    GeneWikii PROP1.
    GenomeRNAii 5626.
    NextBioi 21868.
    PROi O75360.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75360.
    CleanExi HS_PROP1.
    Genevestigatori O75360.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency."
      Duquesnoy P., Roy A., Dastot F., Ghali I., Teinturier C., Netchine I., Cacheux V., Hafez M., Salah N., Chaussain J.-L., Goossens M., Bougneres P., Amselem S.
      FEBS Lett. 437:216-220(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS SER-20 AND CPHD CYS-73.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-20; CPHD2 ILE-117 AND CYS-120.
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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], VARIANT SER-20.
    5. "Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)."
      Fluck C., Deladoey J., Rutishauser K., Eble A., Marti U., Wu W., Mullis P.E.
      J. Clin. Endocrinol. Metab. 83:3727-3734(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPHD2 CYS-120.
    6. "Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1."
      Osorio M.G., Kopp P., Marui S., Latronico A.C., Mendonca B.B., Arnhold I.J.
      J. Clin. Endocrinol. Metab. 85:2779-2785(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPHD2 SER-88, CHARACTERIZATION OF VARIANT CPHD2 SER-88.
    7. "PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency."
      Vallette-Kasic S., Barlier A., Teinturier C., Diaz A., Manavela M., Berthezene F., Bouchard P., Chaussain J.-L., Brauner R., Pellegrini-Bouiller I., Jaquet P., Enjalbert A., Brue T.
      J. Clin. Endocrinol. Metab. 86:4529-4535(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CPHD2 CYS-73 AND HIS-73.
    8. "Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay."
      Vieira T.C., Dias da Silva M.R., Cerutti J.M., Brunner E., Borges M., Arnaldi L.T., Kopp P., Abucham J.
      J. Clin. Endocrinol. Metab. 88:38-44(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPHD2 GLN-99.
    9. "A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies."
      Reynaud R., Chadli-Chaieb M., Vallette-Kasic S., Barlier A., Sarles J., Pellegrini-Bouiller I., Enjalbert A., Chaieb L., Brue T.
      J. Clin. Endocrinol. Metab. 89:5779-5786(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPHD2 CYS-73, CHARACTERIZATION OF VARIANT CPHD2 CYS-73.
    10. "Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)."
      Kelberman D., Turton J.P., Woods K.S., Mehta A., Al-Khawari M., Greening J., Swift P.G., Otonkoski T., Rhodes S.J., Dattani M.T.
      Clin. Endocrinol. (Oxf.) 70:96-103(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CPHD2 TRP-125.

    Entry informationi

    Entry nameiPROP1_HUMAN
    AccessioniPrimary (citable) accession number: O75360
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 126 of the entry and version 2 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 5
      Human chromosome 5: 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

    External Data

    Dasty 3