Gene Gene information from NCBI Gene database.
Entrez ID 10857
Gene name Progesterone receptor membrane component 1
Gene symbol PGRMC1
Synonyms (NCBI Gene)
Dap1HPR6.6IZAMPR
Chromosome X
Chromosome location Xq24
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]
miRNA miRNA information provided by mirtarbase database.
451
miRTarBase ID miRNA Experiments Reference
MIRT001609 hsa-let-7b-5p pSILAC 18668040
MIRT027601 hsa-miR-98-5p Microarray 19088304
MIRT001609 hsa-let-7b-5p Proteomics;Other 18668040
MIRT050203 hsa-miR-25-3p CLASH 23622248
MIRT044164 hsa-miR-130b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding TAS 26871627
GO:0005496 Function Steroid binding IEA
GO:0005496 Function Steroid binding TAS 9705155
GO:0005515 Function Protein binding IPI 21081644, 26988023, 27599036, 28514442, 30021884, 30443021, 32296183, 33961781, 35271311, 37047353
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300435 16090 ENSG00000101856
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00264
Protein name Membrane-associated progesterone receptor component 1 (mPR) (Dap1) (IZA)
Protein function Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). Required for the maintenance of uterine histoarchitectur
PDB 4X8Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00173 Cyt-b5 74 171 Cytochrome b5-like Heme/Steroid binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in urine (at protein level) (PubMed:36213313, PubMed:37453717). Expressed by endometrial glands and stroma (at protein level) (PubMed:23793472). Widely expressed, with highest expression in liver and kidney. {ECO:0000269|PubMe
Sequence
MAAEDVVATGADPSDLESGGLLHEIFTSPLNLLLLGLCIFLLYKIVRGDQPAASGDSDDD
EPPPLPRLKRRDFTPAELRRFDGVQDPRILMAINGKVFDVTKGRKFYGPEGPYGVFAGRD
ASRGLATFCLDKEALKDEYDDLSDLTAAQQETLSDWESQFTFKYHHVGKLL
KEGEEPTVY
SDEEEPKDESARKND
Sequence length 195
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction   Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Genetic non-acquired premature ovarian failure Likely pathogenic rs1334781963, rs776947628 RCV001661776
RCV001661778
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 25390692
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20655063
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21918976
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29445107 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 25390692
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 25390692
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 25390692
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 25390692
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 34777635 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29567854
★☆☆☆☆
Found in Text Mining only