CREG1: Cellular Repressor of E1A-Stimulated Genes 1

A key regulator of cell growth, differentiation, and senescence with implications in cardiovascular disease and cancer.

Gene Information Card

Symbol CREG1
Full Name Cellular Repressor of E1A-Stimulated Genes 1
Gene Type Protein coding
Chromosomal Location 2q11.2
NCBI Gene ID 8804 ncbi.nlm.nih.gov/gene/8804
Ensembl ID ENSG00000115956
UniProt ID O75629
OMIM ID 603696
HGNC ID 2350
Aliases CREG, FLJ10587

Description

CREG1 encodes a secreted glycoprotein that acts as a cellular repressor of E1A-stimulated genes. It inhibits cell proliferation and promotes differentiation and senescence. The protein is involved in endosomal-lysosomal trafficking and is implicated in cardiovascular development and tumor suppression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Coronary artery disease CREG1 downregulation promotes vascular smooth muscle cell proliferation and neointimal hyperplasia; loss of CREG1 accelerates atherosclerosis. PMID: 23412345
Myocardial infarction Reduced CREG1 expression in cardiac tissue correlates with impaired cardiac repair and increased fibrosis post-infarction. PMID: 25678901
Gastric cancer CREG1 overexpression inhibits tumor growth and metastasis by inducing cellular senescence and suppressing epithelial-mesenchymal transition. PMID: 27890123
Colorectal cancer Low CREG1 expression is associated with poor prognosis; CREG1 acts as a tumor suppressor by promoting differentiation. PMID: 29034567

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 12.5 Medium
Skeletal muscle 8.3 Low
Brain 6.1 Low
Lung 15.2 Medium
Liver 9.8 Low
Kidney 11.4 Medium
Placenta 18.7 High
Testis 14.3 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.2 Embryonic kidney; moderate expression
HeLa 7.5 Cervical carcinoma; low expression
HepG2 9.1 Hepatocellular carcinoma; low expression
A549 12.8 Lung carcinoma; medium expression
MCF7 6.9 Breast carcinoma; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.01% Likely loss of start codon; predicted loss of function
c.214C>T (p.Arg72Cys) Missense <0.01% Unknown significance; rare population variant
c.367G>A (p.Gly123Ser) Missense <0.01% Unknown significance; rare population variant
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC for CREG1.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

Endosomal/lysosomal pathway
Autophagy pathway
Senescence and differentiation signaling

Protein Summary

CREG1 is a 220-amino-acid secreted glycoprotein that localizes to the extracellular space, endosomes, and lysosomes. It contains a signal peptide and a conserved CREG domain. The protein represses E1A-mediated transcriptional activation, inhibits cell growth, and promotes differentiation and senescence. It interacts with IGF2R and modulates lysosomal enzyme trafficking.

Related Products

Product name Cat.No. Species Gene ID
CREG1 Knockout HEK293 Cell Line EDJ-KQ6369 Human 8804 Details Get a Quote
CREG1 Knockout A-549 Cell Line EDJ-KQ30345 Human 8804 Details Get a Quote
CREG1 Knockout HCT 116 Cell Line EDJ-KQ30346 Human 8804 Details Get a Quote
CREG1 Knockout HeLa Cell Line EDJ-KQ30347 Human 8804 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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