Seroatlas · Human Serome Atlas

POMP

Proteasome maturation protein

Also known as: C13orf12, HSPC014, POMP_HUMAN, UMP1

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

Protein identityUniProt · HPA

UniProt accession
Q9Y244
Gene
POMP
Ensembl
ENSG00000132963
Chromosome
13
Canonical length
141 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear speckles

OverviewNCBI Gene

The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

141 residues, UniProt reviewed canonical sequence.

>Q9Y244|POMP
     1  MNARGLGSEL KDSIPVTELS ASGPFESHDL LRKGFSCVKN ELLPSHPLEL SEKNFQLNQD
    61  KMNFSTLRNI QGLFAPLKLQ MEFKAVQQVQ RLPFLSSSNL SLDVLRGNDE TIGFEDILND
   121  PSQSEVMGEP HLMVEYKLGL L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POMP 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
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
220 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 220 nTPM
  • skeletal muscle: 216 nTPM
  • liver: 215 nTPM
  • placenta: 201 nTPM
  • heart muscle: 185 nTPM
  • epididymis: 164 nTPM

Single-cell type

  • late primary spermatocytes: 1,551 nCPM
  • extravillous trophoblasts: 1,242 nCPM
  • syncytiotrophoblasts: 1,164 nCPM
  • early spermatids: 1,076 nCPM
  • gastric progenitor cells: 975 nCPM
  • esophageal suprabasal cells: 972 nCPM

Immune cell

  • plasmacytoid DC: 460 nTPM
  • non-classical monocyte: 442 nTPM
  • intermediate monocyte: 427 nTPM
  • myeloid DC: 387 nTPM
  • total PBMC: 343 nTPM
  • classical monocyte: 315 nTPM

Brain region

  • white matter: 127 nTPM
  • spinal cord: 114 nTPM
  • midbrain: 112 nTPM
  • pons: 111 nTPM
  • hypothalamus: 110 nTPM
  • medulla oblongata: 108 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POMP.

Disease | AllUniProt

Conditions POMP is implicated in, by any mechanism.

  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) MIM:601952
  • Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) MIM:618048

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 155 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Proteasome-associated autoinflammatory syndrome 2
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

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)
0.39
gnomAD pLI
0.91
gnomAD missense Z
0.97
DepMap mean gene effect
-0.82
DepMap dependency class
common

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Proteasome maturation factor Ump1
  • Proteasome maturation factor UMP1

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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