Seroatlas · Human Serome Atlas

POMK

Protein O-mannose kinase

Also known as: FLJ23356, SG196_HUMAN, SgK196

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

Protein identityUniProt · HPA

UniProt accession
Q9H5K3
Gene
POMK
Ensembl
ENSG00000185900
Chromosome
8
Canonical length
350 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>Q9H5K3|POMK
     1  MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF
    61  RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW KEHKVALSQL TSLEMKDDFL
   121  HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE
   181  LAMDYVSIIN YLHHSPVGTR VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM
   241  LVKCGHRELH GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
   301  MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POMK 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
1
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 11 nTPM
  • esophagus: 9.4 nTPM
  • hypothalamus: 8.8 nTPM
  • spinal cord: 8.6 nTPM
  • midbrain: 8.3 nTPM
  • cerebral cortex: 6.8 nTPM

Single-cell type

  • gastric progenitor cells: 42 nCPM
  • erythrocyte progenitors: 38 nCPM
  • microglia: 36 nCPM
  • brain inhibitory neurons: 34 nCPM
  • differentiating spermatogonia: 31 nCPM
  • brain excitatory neurons: 30 nCPM

Immune cell

  • neutrophil: 2.8 nTPM
  • plasmacytoid DC: 2.4 nTPM
  • basophil: 2 nTPM
  • non-classical monocyte: 1.5 nTPM
  • myeloid DC: 1.4 nTPM
  • naive B-cell: 1.2 nTPM

Brain region

  • cerebral cortex: 46 nTPM
  • basal ganglia: 43 nTPM
  • hippocampal formation: 41 nTPM
  • hypothalamus: 39 nTPM
  • pons: 37 nTPM
  • white matter: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POMK.

Disease | AllUniProt

Conditions POMK is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) MIM:615249
  • Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12) MIM:616094

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 287 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • Limb-girdle muscular dystrophy due to POMK deficiency
  • POMK-related disorder

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)
1.57
gnomAD pLI
0
gnomAD missense Z
0.47
DepMap mean gene effect
0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 POMK 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 POMK as an antibody target. Whether an autoantibody or antibody against POMK could matter depends on whether native POMK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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