Seroatlas · Human Serome Atlas

MLC1

Membrane protein MLC1

Also known as: KIAA0027, LVM, MLC, MLC1_HUMAN, VL

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

Protein identityUniProt · HPA

UniProt accession
Q15049
Gene
MLC1
Ensembl
ENSG00000100427
Chromosome
22
Canonical length
377 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Cytosol

OverviewNCBI Gene

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

377 residues, UniProt reviewed canonical sequence.

>Q15049|MLC1
     1  MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK TWVFSVLMGS
    61  CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV SRRNANVIPN FQILFVSTFA
   121  VTTTCLIWFG CKLVLNPSAI NINFNLILLL LLELLMAATV IIAARSSEED CKKKKGSMSD
   181  SANILDEVPF PARVLKSYSV VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF
   241  PSAIASHVAA ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS
   301  YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL AGEVARSPLK
   361  EFDKEKAWRA VVVQMAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MLC1 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
8
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
232 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 232 nTPM
  • amygdala: 211 nTPM
  • cerebral cortex: 193 nTPM
  • hippocampal formation: 123 nTPM
  • midbrain: 111 nTPM
  • hypothalamus: 91 nTPM

Single-cell type

  • astrocytes: 156 nCPM
  • bergmann glia: 155 nCPM
  • ependymal cells: 155 nCPM
  • megakaryocyte progenitors: 68 nCPM
  • megakaryocyte-erythroid progenitors: 47 nCPM
  • neutrophil progenitors: 44 nCPM

Immune cell

  • NK-cell: 20 nTPM
  • non-classical monocyte: 9.2 nTPM
  • intermediate monocyte: 6.8 nTPM
  • total PBMC: 4 nTPM
  • gdT-cell: 3.9 nTPM
  • naive CD8 T-cell: 1.8 nTPM

Brain region

  • medulla oblongata: 278 nTPM
  • midbrain: 234 nTPM
  • amygdala: 224 nTPM
  • hypothalamus: 217 nTPM
  • basal ganglia: 213 nTPM
  • thalamus: 211 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MLC1.

Disease | AllUniProt

Conditions MLC1 is implicated in, by any mechanism.

  • Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) MIM:604004

Disease | GeneticClinVar

142 pathogenic / likely-pathogenic of 791 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)
1.16
gnomAD pLI
0
gnomAD missense Z
0.2
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

  • Membrane protein MLC1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MLC1 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 MLC1 as an antibody target. Whether an autoantibody or antibody against MLC1 could matter depends on whether native MLC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MLC1 is annotated at the cell surface, where native MLC1 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 MLC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MLC1. 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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