Seroatlas · Human Serome Atlas

MCOLN1

Mucolipin-1

Also known as: MCLN1_HUMAN, ML4, MLIV, MST080, MSTP080, TRPM-L1, TRPML1

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

Protein identityUniProt · HPA

UniProt accession
Q9GZU1
Gene
MCOLN1
Ensembl
ENSG00000090674
Chromosome
19
Canonical length
580 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Nucleoplasm,Golgi apparatus,Vesicles
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

580 residues, UniProt reviewed canonical sequence.

>Q9GZU1|MCOLN1
     1  MTAPAGPRGS ETERLLTPNP GYGTQAGPSP APPTPPEEED LRRRLKYFFM SPCDKFRAKG
    61  RKPCKLMLQV VKILVVTVQL ILFGLSNQLA VTFREENTIA FRHLFLLGYS DGADDTFAAY
   121  TREQLYQAIF HAVDQYLALP DVSLGRYAYV RGGGDPWTNG SGLALCQRYY HRGHVDPAND
   181  TFDIDPMVVT DCIQVDPPER PPPPPSDDLT LLESSSSYKN LTLKFHKLVN VTIHFRLKTI
   241  NLQSLINNEI PDCYTFSVLI TFDNKAHSGR IPISLETQAH IQECKHPSVF QHGDNSFRLL
   301  FDVVVILTCS LSFLLCARSL LRGFLLQNEF VGFMWRQRGR VISLWERLEF VNGWYILLVT
   361  SDVLTISGTI MKIGIEAKNL ASYDVCSILL GTSTLLVWVG VIRYLTFFHN YNILIATLRV
   421  ALPSVMRFCC CVAVIYLGYC FCGWIVLGPY HVKFRSLSMV SECLFSLING DDMFVTFAAM
   481  QAQQGRSSLV WLFSQLYLYS FISLFIYMVL SLFIALITGA YDTIKHPGGA GAEESELQAY
   541  IAQCQDSPTS GKFRRGSGSA CSLLCCCGRD PSEEHSLLVN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MCOLN1 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
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
47 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 47 nTPM
  • adrenal gland: 36 nTPM
  • pituitary gland: 21 nTPM
  • skeletal muscle: 21 nTPM
  • adipose tissue: 20 nTPM
  • skin: 20 nTPM

Single-cell type

  • kupffer cells: 136 nCPM
  • hofbauer cells: 112 nCPM
  • gonadotrophs: 85 nCPM
  • neutrophils: 74 nCPM
  • macrophages: 68 nCPM
  • adrenal cortex cells: 54 nCPM

Immune cell

  • basophil: 118 nTPM
  • eosinophil: 106 nTPM
  • non-classical monocyte: 106 nTPM
  • intermediate monocyte: 96 nTPM
  • classical monocyte: 45 nTPM
  • neutrophil: 41 nTPM

Brain region

  • white matter: 21 nTPM
  • pons: 19 nTPM
  • thalamus: 18 nTPM
  • choroid plexus: 17 nTPM
  • medulla oblongata: 17 nTPM
  • hypothalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MCOLN1.

Disease | AllUniProt

Conditions MCOLN1 is implicated in, by any mechanism.

Disease | GeneticClinVar

132 pathogenic / likely-pathogenic of 990 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.6
gnomAD pLI
0
gnomAD missense Z
1.61
DepMap mean gene effect
0.17
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

InteractionsUniProt · HPA

Protein binding partners of MCOLN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MCOLN1 as an antibody target. Whether an autoantibody or antibody against MCOLN1 could matter depends on whether native MCOLN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MCOLN1 is annotated at the cell surface, where native MCOLN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MCOLN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MCOLN1. 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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