UniProtKB - O75360 (PROP1_HUMAN)
Protein
Homeobox protein prophet of Pit-1
Gene
PROP1
Organism
Homo sapiens (Human)
Status
Functioni
Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 69 – 128 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- beta-catenin binding Source: Ensembl
- chromatin binding Source: Ensembl
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- protein C-terminus binding Source: Ensembl
- RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl
GO - Biological processi
- blood vessel development Source: Ensembl
- canonical Wnt signaling pathway Source: Ensembl
- cell migration Source: Ensembl
- central nervous system development Source: ProtInc
- dorsal/ventral pattern formation Source: Ensembl
- hypophysis morphogenesis Source: Ensembl
- hypothalamus cell differentiation Source: Ensembl
- negative regulation of apoptotic process Source: Ensembl
- somatotropin secreting cell differentiation Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein prophet of Pit-1Short name: PROP-1 Alternative name(s): Pituitary-specific homeodomain factor |
Gene namesi | Name:PROP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000175325.2 |
HGNCi | HGNC:9455 PROP1 |
MIMi | 601538 gene |
neXtProti | NX_O75360 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- transcription factor complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & 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:262600Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003768 | 73 | R → 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_012746 | 73 | R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar. | 1 | |
Natural variantiVAR_063235 | 88 | F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar. | 1 | |
Natural variantiVAR_063236 | 99 | R → 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_003769 | 117 | F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar. | 1 | |
Natural variantiVAR_003770 | 120 | R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar. | 1 | |
Natural variantiVAR_054973 | 125 | R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 5626 |
GeneReviewsi | PROP1 |
MalaCardsi | PROP1 |
MIMi | 262600 phenotype |
OpenTargetsi | ENSG00000175325 |
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 |
Polymorphism and mutation databases
BioMutai | PROP1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049271 | 1 – 226 | Homeobox protein prophet of Pit-1Add BLAST | 226 |
Proteomic databases
EPDi | O75360 |
PaxDbi | O75360 |
PeptideAtlasi | O75360 |
PRIDEi | O75360 |
ProteomicsDBi | 49924 |
PTM databases
iPTMneti | O75360 |
PhosphoSitePlusi | O75360 |
Expressioni
Tissue specificityi
Expressed specifically in embryonic pituitary.
Gene expression databases
Bgeei | ENSG00000175325 Expressed in 3 organ(s), highest expression level in brain |
Genevisiblei | O75360 HS |
Organism-specific databases
HPAi | HPA049839 |
Interactioni
Binary interactionsi
GO - Molecular functioni
- beta-catenin binding Source: Ensembl
- protein C-terminus binding Source: Ensembl
Protein-protein interaction databases
BioGridi | 111610, 2 interactors |
IntActi | O75360, 68 interactors |
STRINGi | 9606.ENSP00000311290 |
Structurei
3D structure databases
ProteinModelPortali | O75360 |
SMRi | O75360 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the paired homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0490 Eukaryota ENOG410YIJ3 LUCA |
GeneTreei | ENSGT00940000162292 |
HOGENOMi | HOG000115706 |
HOVERGENi | HBG053691 |
InParanoidi | O75360 |
KOi | K09327 |
OMAi | TCFPHPY |
OrthoDBi | 1351285at2759 |
PhylomeDBi | O75360 |
TreeFami | TF315976 |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR000047 HTH_motif |
Pfami | View protein in Pfam PF00046 Homeodomain, 1 hit |
PRINTSi | PR00031 HTHREPRESSR |
SMARTi | View protein in SMART SM00389 HOX, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0G2JQ02 | A0A0G2JQ02_HUMAN | Homeobox protein prophet of Pit-1 | PROP1 hCG_40268 | 226 | Annotation score: | ||
A0A0G2JRP7 | A0A0G2JRP7_HUMAN | Homeobox protein prophet of Pit-1 | PROP1 | 112 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054972 | 20 | N → S3 PublicationsCorresponds to variant dbSNP:rs7445271Ensembl. | 1 | |
Natural variantiVAR_003768 | 73 | R → 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_012746 | 73 | R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar. | 1 | |
Natural variantiVAR_063235 | 88 | F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar. | 1 | |
Natural variantiVAR_063236 | 99 | R → 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_003769 | 117 | F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar. | 1 | |
Natural variantiVAR_003770 | 120 | R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar. | 1 | |
Natural variantiVAR_054973 | 125 | R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar. | 1 | |
Natural variantiVAR_014531 | 142 | A → 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 |
CCDSi | CCDS4430.1 |
RefSeqi | NP_006252.3, NM_006261.4 |
UniGenei | Hs.158301 |
Genome annotation databases
Ensembli | ENST00000308304; ENSP00000311290; ENSG00000175325 |
GeneIDi | 5626 |
KEGGi | hsa:5626 |
UCSCi | uc003mif.1 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar 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 |
CCDSi | CCDS4430.1 |
RefSeqi | NP_006252.3, NM_006261.4 |
UniGenei | Hs.158301 |
3D structure databases
ProteinModelPortali | O75360 |
SMRi | O75360 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 111610, 2 interactors |
IntActi | O75360, 68 interactors |
STRINGi | 9606.ENSP00000311290 |
PTM databases
iPTMneti | O75360 |
PhosphoSitePlusi | O75360 |
Polymorphism and mutation databases
BioMutai | PROP1 |
Proteomic databases
EPDi | O75360 |
PaxDbi | O75360 |
PeptideAtlasi | O75360 |
PRIDEi | O75360 |
ProteomicsDBi | 49924 |
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 |
DisGeNETi | 5626 |
EuPathDBi | HostDB:ENSG00000175325.2 |
GeneCardsi | PROP1 |
GeneReviewsi | PROP1 |
HGNCi | HGNC:9455 PROP1 |
HPAi | HPA049839 |
MalaCardsi | PROP1 |
MIMi | 262600 phenotype 601538 gene |
neXtProti | NX_O75360 |
OpenTargetsi | ENSG00000175325 |
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 | KOG0490 Eukaryota ENOG410YIJ3 LUCA |
GeneTreei | ENSGT00940000162292 |
HOGENOMi | HOG000115706 |
HOVERGENi | HBG053691 |
InParanoidi | O75360 |
KOi | K09327 |
OMAi | TCFPHPY |
OrthoDBi | 1351285at2759 |
PhylomeDBi | O75360 |
TreeFami | TF315976 |
Miscellaneous databases
GeneWikii | PROP1 |
GenomeRNAii | 5626 |
PROi | PR:O75360 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000175325 Expressed in 3 organ(s), highest expression level in brain |
Genevisiblei | O75360 HS |
Family and domain databases
CDDi | cd00086 homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR000047 HTH_motif |
Pfami | View protein in Pfam PF00046 Homeodomain, 1 hit |
PRINTSi | PR00031 HTHREPRESSR |
SMARTi | View protein in SMART SM00389 HOX, 1 hit |
SUPFAMi | SSF46689 SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | PROP1_HUMAN | |
Accessioni | O75360Primary (citable) accession number: O75360 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | November 2, 2010 | |
Last modified: | February 13, 2019 | |
This is version 163 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations