Seroatlas · Human Serome Atlas

DMTN

Dematin

Also known as: DEMA_HUMAN, DMT, EPB49

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

Protein identityUniProt · HPA

UniProt accession
Q08495
Gene
DMTN
Ensembl
ENSG00000158856
Chromosome
8
Canonical length
405 aa
Protein class
Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

405 residues, UniProt reviewed canonical sequence.

>Q08495|DMTN
     1  MERLQKQPLT SPGSVSPSRD SSVPGSPSSI VAKMDNQVLG YKDLAAIPKD KAILDIERPD
    61  LMIYEPHFTY SLLEHVELPR SRERSLSPKS TSPPPSPEVW ADSRSPGIIS QASAPRTTGT
   121  PRTSLPHFHH PETSRPDSNI YKKPPIYKQR ESVGGSPQTK HLIEDLIIES SKFPAAQPPD
   181  PNQPAKIETD YWPCPPSLAV VETEWRKRKA SRRGAEEEEE EEDDDSGEEM KALRERQREE
   241  LSKVTSNLGK MILKEEMEKS LPIRRKTRSL PDRTPFHTSL HQGTSKSSSL PAYGRTTLSR
   301  LQSTEFSPSG SETGSPGLQN GEGQRGRMDR GNSLPCVLEQ KIYPYEMLVV TNKGRTKLPP
   361  GVDRMRLERH LSAEDFSRVF AMSPEEFGKL ALWKRNELKK KASLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DMTN 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
0
Mean surface accessibility (rSASA)
0.6
Highest tissue expression
319 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 319 nTPM
  • basal ganglia: 242 nTPM
  • amygdala: 212 nTPM
  • hippocampal formation: 159 nTPM
  • bone marrow: 124 nTPM
  • hypothalamus: 115 nTPM

Single-cell type

  • platelets: 625 nCPM
  • megakaryocytes: 253 nCPM
  • erythrocytes: 244 nCPM
  • corticotrophs: 78 nCPM
  • erythrocyte progenitors: 75 nCPM
  • lymphatic endothelial cells: 70 nCPM

Immune cell

  • total PBMC: 7.9 nTPM
  • memory CD4 T-cell: 3.7 nTPM
  • T-reg: 3.2 nTPM
  • gdT-cell: 1.7 nTPM
  • MAIT T-cell: 1.7 nTPM
  • memory CD8 T-cell: 1.6 nTPM

Brain region

  • cerebral cortex: 505 nTPM
  • basal ganglia: 410 nTPM
  • amygdala: 386 nTPM
  • white matter: 349 nTPM
  • hippocampal formation: 309 nTPM
  • hypothalamus: 251 nTPM

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)
0.37
gnomAD pLI
0.9
gnomAD missense Z
1.25
DepMap mean gene effect
0.06
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

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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