STMP1: Short Transmembrane Mitochondrial Protein 1

A mitochondrial protein involved in apoptosis and cancer biology

Gene Information Card

Symbol STMP1
Full Name Short Transmembrane Mitochondrial Protein 1
Gene Type Protein-coding
Chromosomal Location 7q22.1
NCBI Gene ID 100506334 ncbi.nlm.nih.gov/gene/100506334
Ensembl ID ENSG00000205744
UniProt ID A6NKD2
OMIM ID 618738
HGNC ID 44277
Aliases MGC16384, C7orf49

Description

STMP1 (Short Transmembrane Mitochondrial Protein 1) is a protein-coding gene located on chromosome 7q22.1. The encoded protein is a small transmembrane protein localized to mitochondria, where it plays a role in mitochondrial dynamics and apoptosis. STMP1 is involved in the regulation of cell death and has been implicated in various cancers, including breast and colorectal cancer. Its expression is associated with poor prognosis in certain tumor types.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer STMP1 overexpression promotes mitochondrial fragmentation and apoptosis resistance, contributing to tumor progression. PMID: 31570799
Colorectal cancer STMP1 upregulation correlates with advanced stage and metastasis, possibly via mitochondrial dysfunction. PMID: 32015517
Hepatocellular carcinoma STMP1 expression is elevated in liver cancer tissues and linked to reduced survival. PMID: 32697934

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Breast 8.2 Low
Colon 6.1 Low
Liver 4.8 Low
Lung 3.9 Low
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 15.3 High expression
HCT116 (colorectal cancer) 11.7 Moderate expression
HepG2 (liver cancer) 9.4 Moderate expression
A549 (lung cancer) 5.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown effect
c.55C>T Synonymous <0.01% No protein change
c.101G>A Missense <0.01% Unknown effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in STMP1.

Gain of Function (GOF)

Overexpression in cancer suggests potential gain-of-function role in apoptosis resistance.

Dominant Negative (DN)

No dominant-negative mutations described.

Pathways

• Apoptosis (KEGG hsa04210)
• Mitochondrial dynamics (Reactome R-HSA-169911)

Protein Summary

STMP1 encodes a 68-amino acid short transmembrane protein localized to the mitochondrial outer membrane. It contains a single transmembrane domain and a short C-terminal tail. The protein is involved in mitochondrial fragmentation and apoptosis regulation. Overexpression of STMP1 sensitizes cells to apoptotic stimuli, while its knockdown reduces apoptosis. STMP1 interacts with mitochondrial fission proteins and modulates cristae structure. Its expression is upregulated in several cancers and correlates with poor prognosis.

Related Products

Product name Cat.No. Species Gene ID
STMP1 Knockout HEK293 Cell Line EDJ-KQ15544 Human 647087 Details Get a Quote
STMP1 Knockout A-549 Cell Line EDJ-KQ46391 Human 647087 Details Get a Quote
STMP1 Knockout HCT 116 Cell Line EDJ-KQ46392 Human 647087 Details Get a Quote
STMP1 Knockout HeLa Cell Line EDJ-KQ46393 Human 647087 Details Get a Quote
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