Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Homeobox protein prophet of Pit-1

Gene

PROP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000175325.2
HGNCiHGNC:9455 PROP1
MIMi601538 gene
neXtProtiNX_O75360

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs121917843EnsemblClinVar.1
Natural variantiVAR_01274673R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar.1
Natural variantiVAR_06323588F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar.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 dbSNP:rs137853100EnsemblClinVar.1
Natural variantiVAR_003769117F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar.1
Natural variantiVAR_003770120R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar.1
Natural variantiVAR_054973125R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi5626
GeneReviewsiPROP1
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
PeptideAtlasiO75360
PRIDEiO75360
ProteomicsDBi49924

PTM databases

iPTMnetiO75360
PhosphoSitePlusiO75360

Expressioni

Tissue specificityi

Expressed specifically in embryonic pituitary.

Gene expression databases

BgeeiENSG00000175325 Expressed in 3 organ(s), highest expression level in brain
CleanExiHS_PROP1
GenevisibleiO75360 HS

Organism-specific databases

HPAiHPA049839

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111610, 2 interactors
IntActiO75360, 68 interactors
STRINGi9606.ENSP00000311290

Structurei

3D structure databases

ProteinModelPortaliO75360
SMRiO75360
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00930000150828
HOGENOMiHOG000115706
HOVERGENiHBG053691
InParanoidiO75360
KOiK09327
OMAiTCFPHPY
OrthoDBiEOG091G0R1U
PhylomeDBiO75360
TreeFamiTF315976

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0G2JQ02A0A0G2JQ02_HUMAN
Homeobox protein prophet of Pit-1
PROP1 hCG_40268
226Annotation score:
A0A0G2JRP7A0A0G2JRP7_HUMAN
Homeobox protein prophet of Pit-1
PROP1
112Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05497220N → S3 PublicationsCorresponds to variant dbSNP:rs7445271Ensembl.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 dbSNP:rs121917843EnsemblClinVar.1
Natural variantiVAR_01274673R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar.1
Natural variantiVAR_06323588F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar.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 dbSNP:rs137853100EnsemblClinVar.1
Natural variantiVAR_003769117F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar.1
Natural variantiVAR_003770120R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar.1
Natural variantiVAR_054973125R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar.1
Natural variantiVAR_014531142A → T. Corresponds to variant dbSNP:rs1800197EnsemblClinVar.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

Similar proteinsi

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, 68 interactors
STRINGi9606.ENSP00000311290

PTM databases

iPTMnetiO75360
PhosphoSitePlusiO75360

Polymorphism and mutation databases

BioMutaiPROP1

Proteomic databases

EPDiO75360
PaxDbiO75360
PeptideAtlasiO75360
PRIDEiO75360
ProteomicsDBi49924

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5626
DisGeNETi5626
EuPathDBiHostDB:ENSG00000175325.2
GeneCardsiPROP1
GeneReviewsiPROP1
HGNCiHGNC:9455 PROP1
HPAiHPA049839
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
GeneTreeiENSGT00930000150828
HOGENOMiHOG000115706
HOVERGENiHBG053691
InParanoidiO75360
KOiK09327
OMAiTCFPHPY
OrthoDBiEOG091G0R1U
PhylomeDBiO75360
TreeFamiTF315976

Miscellaneous databases

GeneWikiiPROP1
GenomeRNAii5626
PROiPR:O75360
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175325 Expressed in 3 organ(s), highest expression level in brain
CleanExiHS_PROP1
GenevisibleiO75360 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPROP1_HUMAN
AccessioniPrimary (citable) accession number: O75360
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 160 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again