Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10857
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PGRMC1   Gene   UCSC   Ensembl
Aliases HPR6.6, MPR
Gene name progesterone receptor membrane component 1
Alternate names membrane-associated progesterone receptor component 1, progesterone binding protein,
Gene location Xq24 (119236244: 119244465)     Exons: 3     NC_000023.11
Gene summary(Entrez) This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]
OMIM 300435

Protein Summary

Protein general information O00264  

Name: Membrane associated progesterone receptor component 1 (mPR)

Length: 195  Mass: 21,671

Tissue specificity: Widely expressed, with highest expression in liver and kidney.

Sequence MAAEDVVATGADPSDLESGGLLHEIFTSPLNLLLLGLCIFLLYKIVRGDQPAASGDSDDDEPPPLPRLKRRDFTP
AELRRFDGVQDPRILMAINGKVFDVTKGRKFYGPEGPYGVFAGRDASRGLATFCLDKEALKDEYDDLSDLTAAQQ
ETLSDWESQFTFKYHHVGKLLKEGEEPTVYSDEEEPKDESARKND
Structural information
Protein Domains
Cytochrome (72-171)
Interpro:  IPR001199

Pfam:  
PF00173

PDB:  
4X8Y
PDBsum:   4X8Y
MINT:   2997519
STRING:   ENSP00000217971;
Other Databases GeneCards:  PGRMC1;  Malacards:  PGRMC1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005496 steroid binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005730 nucleolus
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0012505 endomembrane system
IBA cellular_component
GO:0016020 membrane
IBA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0020037 heme binding
IBA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005496 steroid binding
IEA molecular_function
GO:0005496 steroid binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005730 nucleolus
IDA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0008289 lipid binding
IEA molecular_function
GO:0012505 endomembrane system
IBA cellular_component
GO:0016020 membrane
IBA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0020037 heme binding
IBA molecular_function
GO:0031090 organelle membrane
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005496 steroid binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005730 nucleolus
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0012505 endomembrane system
IBA cellular_component
GO:0016020 membrane
IBA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0020037 heme binding
IBA molecular_function
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 23793472
Endometriosis INFBASE23793472
Ovarian follicle development PMID: 23781168
Polycystic ovary syndrome (PCOS) PMID: 23781168
Premature ovarian failure ( POF) PMID: 25246111
Follicular defects PMID: 23781168

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23793472 Endometrio
sis

34 (11 women wi
th laparoscopic
ally and/or his
tologically pro
ven stage III/I
V endometriosis
, 23 disease-fr
ee women)
PGRMC-1
PGRMC-2
Show abstract