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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMCC1
transmembrane and coiled-coil domain family 1
Chromosome 3 · 3q22.1
NCBI Gene: 23023Ensembl: ENSG00000172765.19HGNC: HGNC:29116UniProt: A0A8V8TLJ9
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingendoplasmic reticulum organizationendosomal transportinherited retinal dystrophyprostate carcinomaLoss of consciousnessdiabetes mellitus
✦AI Summary

TMCC1 is an endoplasmic reticulum (ER) membrane protein that functions as a regulator of ER-associated endosome fission 1. The protein localizes to contact sites between the ER and endosomes, where it promotes recruitment of the ER to endosome tubules to facilitate membrane fission 1. TMCC1 contains two adjacent transmembrane domains near its C-terminus and coiled-coil domains, with its N-terminal and cytosolic C-terminal regions extending into the cytoplasm 2. These cytosolic regions form homo- and hetero-oligomers with other TMCC family proteins 2. Functionally, endosome membrane fission mediated by TMCC1 is essential for cargo sorting, separating regions destined for lysosomal degradation from carriers recycled to the plasma membrane 1. When TMCC1 is depleted, endosome morphology remains normal and buds form, but ER-associated bud fission and subsequent cargo sorting to the Golgi are impaired 1. TMCC1 recruitment requires Coronin 1C, an endosome-localized actin regulator, suggesting tightly regulated timing of ER recruitment after proper cargo sequestration 1. Beyond its canonical ER function, TMCC1 has emerged as a biomarker in disease contexts; dysregulation of TMCC1-AS1 (an antisense lncRNA) associates with hepatocellular carcinoma prognosis and immune responses 345, and TMCC1 transcript expression correlates with tuberculosis disease status 6.

Sources cited
1
TMCC1 concentrates at ER-endosome membrane contact sites and promotes ER-associated endosome fission; depletion impairs bud fission and cargo sorting; recruitment requires Coronin 1C
PMID: 30220460
2
TMCC1 is an ER protein with two transmembrane domains near C-terminus and coiled-coil domains; cytosolic regions form homo- and hetero-oligomers with other TMCC proteins
PMID: 24454821
3
TMCC1-AS1 dysregulation in hepatocellular carcinoma associates with prognosis and tumor immune microenvironment
PMID: 38185671
4
TMCC1 is an ER stress-related gene included in a prognostic risk model for hepatocellular carcinoma predicting survival and immune features
PMID: 36003068
5
TMCC1-AS1 is a cell cycle-related lncRNA significantly upregulated in hepatocellular carcinoma with prognostic and immunotherapy predictive value
PMID: 39681799
6
TMCC1 transcript expression is part of a four-transcript signature distinguishing tuberculosis patients from other diseases
PMID: 33763081
Disease Associationsⓘ20
inherited retinal dystrophyOpen Targets
0.34Weak
prostate carcinomaOpen Targets
0.29Weak
Loss of consciousnessOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.23Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
laryngotracheoesophageal cleftOpen Targets
0.07Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
osteoarthritis, kneeOpen Targets
0.03Suggestive
lymph node metastatic carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
liver cancerOpen Targets
0.01Suggestive
Townes-Brocks syndromeOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
dermatomyositisOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
thyroid cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFAP100Protein interaction86%KLF15Protein interaction85%PODXL2Protein interaction84%PLXND1Protein interaction78%ALS2CLShared pathway25%SNX5Shared pathway22%
Tissue Expression6 tissues
Brain
100%
Heart
96%
Liver
93%
Lung
63%
Ovary
57%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
TMCC1CFAP100KLF15PODXL2PLXND1ALS2CLSNX5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94876
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.19–0.44]
RankingsWhere TMCC1 stands among ~20K protein-coding genes
  • #11,812of 20,598
    Most Researched31
  • #2,366of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedTMCC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Novel Class of ER Membrane Proteins Regulates ER-Associated Endosome Fission.
PMID: 30220460
Cell · 2018
1.00
2
Transmembrane and coiled-coil domain family 1 is a novel protein of the endoplasmic reticulum.
PMID: 24454821
PLoS One · 2014
0.90
3
Epigenetic markers of disease risk and psychotherapy response in anxiety disorders - a longitudinal analysis of the DNA methylome.
PMID: 40281224
Mol Psychiatry · 2025
0.80
4
Prognostic analysis of hepatocellular carcinoma based on cuproptosis -associated lncRNAs.
PMID: 38654165
BMC Gastroenterol · 2024
0.70
5
A disulfidptosis-related lncRNAs signature in hepatocellular carcinoma: prognostic prediction, tumor immune microenvironment and drug susceptibility.
PMID: 38185671
Sci Rep · 2024
0.60