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O75360

- PROP1_HUMAN

UniProt

O75360 - PROP1_HUMAN

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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

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. 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
Complete GO annotation...

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-KW
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

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.
GeneTreeiENSGT00760000118908.
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

        10         20         30         40         50
MEAERRRQAE KPKKGRVGSN LLPERHPATG TPTTTVDSSA PPCRRLPGAG
60 70 80 90 100
GGRSRFSPQG GQRGRPHSRR RHRTTFSPVQ LEQLESAFGR NQYPDIWARE
110 120 130 140 150
SLARDTGLSE ARIQVWFQNR RAKQRKQERS LLQPLAHLSP AAFSSFLPES
160 170 180 190 200
TACPYSYAAP PPPVTCFPHP YSHALPSQPS TGGAFALSHQ SEDWYPTLHP
210 220
APAGHLPCPP PPPMLPLSLE PSKSWN
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00760000118908.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 128 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