Seroatlas · Human Serome Atlas

POMT1

Protein O-mannosyl-transferase 1

Also known as: LGMD2K, POMT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9Y6A1
Gene
POMT1
Ensembl
ENSG00000130714
Chromosome
9
Canonical length
747 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Golgi apparatus

OverviewNCBI Gene

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

747 residues, UniProt reviewed canonical sequence.

>Q9Y6A1|POMT1
     1  MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY ISFYMKQIFF
    61  LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP VWSLRLLPAL AGALSVPMAY
   121  QIVLELHFSH CAAMGAALLM LIENALITQS RLMLLESVLI FFNLLAVLSY LKFFNCQKHS
   181  PFSLSWWFWL TLTGVACSCA VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC
   241  CMRPACMGQM QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS
   301  AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM IYENGRGSSH
   361  QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM VQLVHGMTTR SLNTHDVAAP
   421  LSPHSQEVSC YIDYNISMPA QNLWRLEIVN RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG
   481  AHLPDWGYRQ LEIVGEKLSR GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL
   541  SFMARFSELQ WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW
   601  VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN YLPFFLMEKT
   661  LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA LVVAWYSSAC HVSNTLRPLT
   721  YGDKSLSPHE LKALRWKDSW DILIRKH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POMT1 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
12
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
20 nTPM

Expression across tissuesHPA

Tissue

  • hippocampal formation: 20 nTPM
  • testis: 18 nTPM
  • cerebellum: 16 nTPM
  • skeletal muscle: 15 nTPM
  • choroid plexus: 15 nTPM
  • cerebral cortex: 14 nTPM

Single-cell type

  • early spermatids: 85 nCPM
  • late primary spermatocytes: 77 nCPM
  • myonuclei: 73 nCPM
  • early primary spermatocytes: 57 nCPM
  • retinal ganglion cells: 54 nCPM
  • late spermatids: 53 nCPM

Immune cell

  • MAIT T-cell: 7.1 nTPM
  • T-reg: 5 nTPM
  • gdT-cell: 4.7 nTPM
  • memory CD8 T-cell: 4.7 nTPM
  • memory CD4 T-cell: 4.5 nTPM
  • naive CD4 T-cell: 4.4 nTPM

Brain region

  • hippocampal formation: 17 nTPM
  • cerebral cortex: 11 nTPM
  • medulla oblongata: 8.9 nTPM
  • thalamus: 8.5 nTPM
  • pons: 8.3 nTPM
  • cerebellum: 7.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POMT1.

Disease | AllUniProt

Conditions POMT1 is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 (MDDGB1) MIM:613155
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) MIM:236670
  • Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) MIM:609308

Disease | GeneticClinVar

199 pathogenic / likely-pathogenic of 1,302 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on POMT1 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)
0.93
gnomAD pLI
0
gnomAD missense Z
0.62
DepMap mean gene effect
-0.01
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 POMT1 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 POMT1 as an antibody target. Whether an autoantibody or antibody against POMT1 could matter depends on whether native POMT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POMT1 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 POMT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POMT1. 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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