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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMTC1
transmembrane O-mannosyltransferase targeting cadherins 1
Chromosome 12 · 12p11.22
NCBI Gene: 83857Ensembl: ENSG00000133687.16HGNC: HGNC:24099UniProt: F8VTQ9
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein O-linked glycosylation via mannosedolichyl-phosphate-mannose-protein mannosyltransferase activitymannosyltransferase activityRNA processingschizophreniatype 2 diabetes mellitusbenign chondrogenic neoplasmcardiac transplant
✦AI Summary

TMTC1 (transmembrane O-mannosyltransferase targeting cadherins 1) is an ER-resident O-mannosyltransferase that catalyzes the transfer of mannosyl residues to serine or threonine residues on target proteins 1. As a member of the TMTC1-4 family, TMTC1 belongs to the GT-C/PMT superfamily of sugar-transferring enzymes 2 and represents a distinct O-mannosylation pathway dedicated primarily to the cadherin superfamily and other adhesion molecules 1. TMTC1 modifies cadherins and integrins β1 and β4 through O-linked mannose glycosylation at specific Ig-like protein domains, facilitating cell-cell and cell-extracellular matrix interactions 3. Functionally, TMTC1 maintains vascular homeostasis as a Notch transcriptional target, interacting with VE-cadherin to regulate its ER egress and endothelial barrier integrity 4. Disease relevance includes ovarian cancer, where TMTC1 overexpression promotes cell invasiveness and poor prognosis through enhanced integrin-mediated migration and invasion 5. TMTC1 has also been implicated in schizophrenia pathogenesis through altered brain glycosylation patterns 6 and in hypertrophic cardiomyopathy, where downregulation in endothelial cells contributes to endothelial dysfunction 7.

Sources cited
1
TMTC1-4 genes encode ER-located O-mannosyltransferases in a distinct pathway primarily dedicated to cadherin superfamily glycosylation in metazoans
PMID: 30999272
2
TMTC1 is an enzymatically active sugar transferase of the GT-C/PMT superfamily with conserved catalytic residues and ligand binding sites
PMID: 33436046
3
TMTC1-4 pathway targets distinct Ig-like protein domains of plasma membrane proteins involved in cell-cell and cell-extracellular matrix interactions
PMID: 38851451
4
TMTC1 is a Notch transcriptional target that maintains vascular homeostasis by interacting with VE-cadherin and regulating its ER egress
PMID: 39190102
5
TMTC1 is overexpressed in ovarian cancer and promotes invasiveness through O-mannosylation of integrins β1 and β4, correlating with poor prognosis
PMID: 37221403
6
TMTC1 variants are associated with schizophrenia, likely through altered glycosylation patterns affecting disease pathophysiology
PMID: 32377000
7
TMTC1 is downregulated in hypertrophic cardiomyopathy endothelial cells; its overexpression reverses angiotensin II-induced endothelial dysfunction
PMID: 41392291
Disease Associationsⓘ20
schizophreniaOpen Targets
0.51Moderate
type 2 diabetes mellitusOpen Targets
0.29Weak
benign chondrogenic neoplasmOpen Targets
0.29Weak
cardiac transplantOpen Targets
0.29Weak
acute tonsillitisOpen Targets
0.26Weak
prostatitisOpen Targets
0.26Weak
male reproductive organ cancerOpen Targets
0.22Weak
Sjogren syndromeOpen Targets
0.20Weak
brain cancerOpen Targets
0.19Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.18Weak
ovarian dysfunctionOpen Targets
0.18Weak
injuryOpen Targets
0.17Weak
Delayed pubertyOpen Targets
0.17Weak
glomerulonephritisOpen Targets
0.17Weak
abscessOpen Targets
0.17Weak
cellulitisOpen Targets
0.17Weak
preeclampsiaOpen Targets
0.15Weak
ovarian cancerOpen Targets
0.08Suggestive
androgenetic alopeciaOpen Targets
0.05Suggestive
familial isolated congenital aspleniaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADCY3Protein interaction98%ADORA2AProtein interaction87%DRD1Protein interaction87%GNALProtein interaction87%RIC8BProtein interaction87%EBF1Protein interaction85%
Tissue Expression6 tissues
Heart
100%
Brain
50%
Lung
50%
Ovary
36%
Liver
8%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
TMTC1ADCY3ADORA2ADRD1GNALRIC8BEBF1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IUR5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.81]
RankingsWhere TMTC1 stands among ~20K protein-coding genes
  • #12,904of 20,598
    Most Researched26
  • #6,726of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedTMTC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
Multiple distinct O-Mannosylation pathways in eukaryotes.
PMID: 30999272
Curr Opin Struct Biol · 2019
0.90
3
TMTC1 promotes invasiveness of ovarian cancer cells through integrins β1 and β4.
PMID: 37221403
Cancer Gene Ther · 2023
0.80
4
Global View of Domain-Specific O-Linked Mannose Glycosylation in Glycoengineered Cells.
PMID: 38851451
Mol Cell Proteomics · 2024
0.70
5
Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia.
PMID: 38232443
Asian J Psychiatr · 2024
0.60