PGRMC1

Gene Information
 
Gene Symbol
PGRMC1
 
Aliases
HPR6.6, MPR
 
Entrez Gene ID
 
Gene Name
Progesterone receptor membrane component 1
 
Chromosomal Location
Xq22-q24
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0005634 Cellular component Nucleus IDA 18029348
GO:0005730 Cellular component Nucleolus IDA 18029348
GO:0005783 Cellular component Endoplasmic reticulum IDA 18029348
GO:0009986 Cellular component Cell surface IDA 12493773
GO:0005515 Molecular function Protein binding IPI 17353931
Protein Information
 
Protein Name
Membrane-associated progesterone receptor component 1
 
Function
Receptor for progesterone (By similarity)
 
Refseq Proteins
 
UniProt
 
InterPro
Accessions
IPR001199
 
Pfam
Pfam Accession Pfam ID
PF00173 Cyt-b5 Cytochrome b5-like Heme/Steroid binding domain
 
OMIM

Associated Diseases

Diseases References
Premature ovarian failure (POF) 20537145
   
References
 
Primary:

Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS).

Schuster Jens, Karlsson Teresia, Karlstrom Per-Olof, Poromaa Inger Sundstrom, Dahl Niklas
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden. jens.schuster@genpat.uu.se
Reprod Biol Endocrinol. 2010 Jun 10;8:58. doi: 10.1186/1477-7827-8-58.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Perturbed ovulatory function,premature ovarian failure 
 
Rotterdam criteria 
Related 
 
This study suggests that reduced levels of PGRMC1 in peripheral leukocytes are associated with perturbed ovulatory function. 

 

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