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Protein

Homeobox protein prophet of Pit-1

Gene

PROP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
DNA bindingi69 – 128HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175325-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:9455. PROP1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Pituitary hormone deficiency, combined, 2 (CPHD2)7 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. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.
See also OMIM:262600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00376873R → 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 PublicationsCorresponds to variant rs121917843dbSNPEnsembl.1
Natural variantiVAR_01274673R → H in CPHD2; familial. 1 PublicationCorresponds to variant rs121917842dbSNPEnsembl.1
Natural variantiVAR_06323588F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant rs121917841dbSNPEnsembl.1
Natural variantiVAR_06323699R → 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 PublicationCorresponds to variant rs137853100dbSNPEnsembl.1
Natural variantiVAR_003769117F → I in CPHD2; familial. 1 PublicationCorresponds to variant rs121917840dbSNPEnsembl.1
Natural variantiVAR_003770120R → C in CPHD2; familial. 2 PublicationsCorresponds to variant rs121917839dbSNPEnsembl.1
Natural variantiVAR_054973125R → W in CPHD2. 1 PublicationCorresponds to variant rs146918863dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi5626.
MalaCardsiPROP1.
MIMi262600. phenotype.
OpenTargetsiENSG00000175325.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
90695. Panhypopituitarism.
PharmGKBiPA33808.

Polymorphism and mutation databases

BioMutaiPROP1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492711 – 226Homeobox protein prophet of Pit-1Add BLAST226

Proteomic databases

EPDiO75360.
PaxDbiO75360.
PRIDEiO75360.

PTM databases

iPTMnetiO75360.
PhosphoSitePlusiO75360.

Expressioni

Tissue specificityi

Expressed specifically in embryonic pituitary.

Gene expression databases

CleanExiHS_PROP1.
GenevisibleiO75360. HS.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi111610. 2 interactors.
IntActiO75360. 9 interactors.
STRINGi9606.ENSP00000311290.

Structurei

3D structure databases

ProteinModelPortaliO75360.
SMRiO75360.
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

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00860000133740.
HOGENOMiHOG000115706.
HOVERGENiHBG053691.
InParanoidiO75360.
KOiK09327.
OMAiAFGRSQY.
OrthoDBiEOG091G0R1U.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_05497220N → S.3 PublicationsCorresponds to variant rs7445271dbSNPEnsembl.1
Natural variantiVAR_00376873R → 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 PublicationsCorresponds to variant rs121917843dbSNPEnsembl.1
Natural variantiVAR_01274673R → H in CPHD2; familial. 1 PublicationCorresponds to variant rs121917842dbSNPEnsembl.1
Natural variantiVAR_06323588F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant rs121917841dbSNPEnsembl.1
Natural variantiVAR_06323699R → 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 PublicationCorresponds to variant rs137853100dbSNPEnsembl.1
Natural variantiVAR_003769117F → I in CPHD2; familial. 1 PublicationCorresponds to variant rs121917840dbSNPEnsembl.1
Natural variantiVAR_003770120R → C in CPHD2; familial. 2 PublicationsCorresponds to variant rs121917839dbSNPEnsembl.1
Natural variantiVAR_054973125R → W in CPHD2. 1 PublicationCorresponds to variant rs146918863dbSNPEnsembl.1
Natural variantiVAR_014531142A → T.Corresponds to variant rs1800197dbSNPEnsembl.1

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.
CCDSiCCDS4430.1.
RefSeqiNP_006252.3. NM_006261.4.
UniGeneiHs.158301.

3D structure databases

ProteinModelPortaliO75360.
SMRiO75360.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111610. 2 interactors.
IntActiO75360. 9 interactors.
STRINGi9606.ENSP00000311290.

PTM databases

iPTMnetiO75360.
PhosphoSitePlusiO75360.

Polymorphism and mutation databases

BioMutaiPROP1.

Proteomic databases

EPDiO75360.
PaxDbiO75360.
PRIDEiO75360.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5626.
DisGeNETi5626.
GeneCardsiPROP1.
GeneReviewsiPROP1.
HGNCiHGNC:9455. PROP1.
MalaCardsiPROP1.
MIMi262600. phenotype.
601538. gene.
neXtProtiNX_O75360.
OpenTargetsiENSG00000175325.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
90695. Panhypopituitarism.
PharmGKBiPA33808.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00860000133740.
HOGENOMiHOG000115706.
HOVERGENiHBG053691.
InParanoidiO75360.
KOiK09327.
OMAiAFGRSQY.
OrthoDBiEOG091G0R1U.
PhylomeDBiO75360.
TreeFamiTF315976.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175325-MONOMER.

Miscellaneous databases

GeneWikiiPROP1.
GenomeRNAii5626.
PROiO75360.
SOURCEiSearch...

Gene expression databases

CleanExiHS_PROP1.
GenevisibleiO75360. HS.

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]
ProtoNetiSearch...

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 30, 2016
This is version 144 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.