Seroatlas · Human Serome Atlas

TMCO1

Calcium load-activated calcium channel

Also known as: HP10122, TMCC4, TMCO1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UM00
Gene
TMCO1
Ensembl
ENSG00000143183
Chromosome
1
Canonical length
239 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Endoplasmic reticulum
Quaternary structure
Homotetramer

OverviewNCBI Gene

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

239 residues, UniProt reviewed canonical sequence.

>Q9UM00|TMCO1
     1  MPRKRKCDLR AVRVGLLLGG GGVYGSRFRF TFPGCRALSP WRVRVQRRRC EMSTMFADTL
    61  LIVFISVCTA LLAEGITWVL VYRTDKYKRL KAEVEKQSKK LEKKKETITE SAGRQQKKKI
   121  ERQEEKLKNN NRDLSMVRMK SMFAIGFCFT ALMGMFNSIF DGRVVAKLPF TPLSYIQGLS
   181  HRNLLGDDTT DCSFIFLYIL CTMSIRQNIQ KILGLAPSRA ATKQAGGFLG PPPPSGKFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMCO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
3
Mean surface accessibility (rSASA)
0.46
Highest tissue expression
152 nTPM

Expression across tissuesHPA

Tissue

  • liver: 152 nTPM
  • choroid plexus: 146 nTPM
  • parathyroid gland: 135 nTPM
  • rectum: 121 nTPM
  • colon: 119 nTPM
  • duodenum: 109 nTPM

Single-cell type

  • hepatocytes: 390 nCPM
  • esophageal apical cells: 312 nCPM
  • colonocytes: 290 nCPM
  • enterocytes: 280 nCPM
  • late spermatids: 265 nCPM
  • early primary spermatocytes: 238 nCPM

Immune cell

  • total PBMC: 291 nTPM
  • plasmacytoid DC: 244 nTPM
  • basophil: 214 nTPM
  • T-reg: 208 nTPM
  • non-classical monocyte: 203 nTPM
  • eosinophil: 174 nTPM

Brain region

  • choroid plexus: 106 nTPM
  • white matter: 82 nTPM
  • spinal cord: 73 nTPM
  • midbrain: 71 nTPM
  • hypothalamus: 70 nTPM
  • medulla oblongata: 69 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMCO1.

Disease | AllUniProt

Conditions TMCO1 is implicated in, by any mechanism.

  • Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1 (CFSMR1) MIM:213980
  • Glaucoma, primary open angle (POAG) MIM:137760

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 98 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on TMCO1 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.36
gnomAD pLI
0
gnomAD missense Z
1.03
DepMap mean gene effect
0.2
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMCO1 as an antibody target. Whether an autoantibody or antibody against TMCO1 could matter depends on whether native TMCO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMCO1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TMCO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMCO1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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