PGRMC1 (Progesterone Receptor Membrane Component 1)

A multifunctional heme-binding protein involved in steroid signaling, cancer, and neuroprotection.

Gene Information Card

Symbol PGRMC1
Full Name Progesterone Receptor Membrane Component 1
Gene Type Protein coding
Chromosomal Location Xq24
NCBI Gene ID 10857 ncbi.nlm.nih.gov/gene/10857
Ensembl ID ENSG00000101856
UniProt ID O00264
OMIM ID 300435
HGNC ID 8909
Aliases HPR6.6, IZA, DKFZp564A043, mPR

Description

PGRMC1 encodes a membrane-associated progesterone receptor that binds heme and mediates rapid, non-genomic progesterone signaling. It is involved in cell survival, proliferation, migration, and steroid hormone metabolism. The protein is highly conserved and expressed in multiple tissues, with roles in cancer progression, neuroprotection, and female reproductive physiology.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer PGRMC1 overexpression promotes proliferation and anti-apoptotic signaling via PI3K/AKT and MAPK pathways. ClinVar, COSMIC, NCBI
Ovarian cancer Increased PGRMC1 expression correlates with chemoresistance and poor prognosis. COSMIC, NCBI
Endometrial cancer PGRMC1 enhances cell migration and invasion through heme-dependent mechanisms. COSMIC, NCBI
Neurodegenerative disorders PGRMC1 exerts neuroprotective effects by reducing oxidative stress and apoptosis. NCBI, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Breast 12.5 Medium
Ovary 8.3 Low
Endometrium 15.2 Medium
Brain 6.1 Low
Liver 4.8 Low
Kidney 7.9 Low
Cell Line Expression
Cell Line nTPM Notes
MCF-7 (breast cancer) 18.4 High expression
SK-OV-3 (ovarian cancer) 9.7 Medium expression
HepG2 (liver cancer) 5.2 Low expression
SH-SY5Y (neuroblastoma) 7.1 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.1% Likely loss of start codon; functional impact unknown
c.376C>T (p.Arg126Cys) Missense <0.1% May alter heme binding; uncertain significance
c.482G>A (p.Arg161Gln) Missense <0.1% Reported in COSMIC; functional effect not established
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations described.

Gene Ontology (GO)

• progesterone receptor activity • heme binding
• protein homodimerization activity • membrane
• cytoplasm • endoplasmic reticulum
• signal transduction • cell proliferation
• apoptotic process

Pathways

• Progesterone-mediated oocyte maturation
• PI3K-Akt signaling pathway
• MAPK signaling pathway

Protein Summary

PGRMC1 is a 25 kDa transmembrane protein with a single heme-binding domain. It localizes to the endoplasmic reticulum and plasma membrane, where it interacts with multiple partners including EGFR, PAIRBP1, and SERBP1. The protein mediates rapid progesterone effects, regulates cytochrome P450 activity, and modulates cell survival pathways. Its expression is upregulated in several cancers and linked to therapy resistance.

Related Products

Product name Cat.No. Species Gene ID
PGRMC1 Knockout HEK293 Cell Line EDJ-KQ7190 Human 10857 Details Get a Quote
PGRMC1 Knockout A-549 Cell Line EDJ-KQ32130 Human 10857 Details Get a Quote
PGRMC1 Knockout HCT 116 Cell Line EDJ-KQ32131 Human 10857 Details Get a Quote
PGRMC1 Knockout HeLa Cell Line EDJ-KQ32132 Human 10857 Details Get a Quote
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