Seroatlas · Human Serome Atlas

CEP19

Centrosomal protein of 19 kDa

Also known as: C3orf34, CEP19_HUMAN, MGC14126

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

Protein identityUniProt · HPA

UniProt accession
Q96LK0
Gene
CEP19
Ensembl
ENSG00000174007
Chromosome
3
Canonical length
163 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

163 residues, UniProt reviewed canonical sequence.

>Q96LK0|CEP19
     1  MMCTAKKCGI RFQPPAIILI YESEIKGKIR QRIMPVRNFS KFSDCTRAAE QLKNNPRHKS
    61  YLEQVSLRQL EKLFSFLRGY LSGQSLAETM EQIQRETTID PEEDLNKLDD KELAKRKSIM
   121  DELFEKNQKK KDDPNFVYDI EVEFPQDDQL QSCGWDTESA DEF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP19 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
9.3 nTPM

Expression across tissuesHPA

Tissue

  • testis: 9.3 nTPM
  • thymus: 7.1 nTPM
  • cerebral cortex: 6.2 nTPM
  • basal ganglia: 6.1 nTPM
  • retina: 6.1 nTPM
  • hypothalamus: 5.3 nTPM

Single-cell type

  • late primary spermatocytes: 113 nCPM
  • neutrophils: 87 nCPM
  • differentiating spermatogonia: 51 nCPM
  • early primary spermatocytes: 43 nCPM
  • respiratory ciliated cells: 38 nCPM
  • undifferentiated spermatogonia: 34 nCPM

Immune cell

  • neutrophil: 144 nTPM
  • eosinophil: 59 nTPM
  • basophil: 51 nTPM
  • plasmacytoid DC: 11 nTPM
  • naive CD4 T-cell: 10 nTPM
  • memory CD4 T-cell: 7.9 nTPM

Brain region

  • hypothalamus: 8.8 nTPM
  • choroid plexus: 8.4 nTPM
  • cerebral cortex: 8.2 nTPM
  • hippocampal formation: 7.7 nTPM
  • midbrain: 7.7 nTPM
  • white matter: 7.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP19.

Disease | AllUniProt

Conditions CEP19 is implicated in, by any mechanism.

  • Morbid obesity and spermatogenic failure (MOSPGF) MIM:615703

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 117 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)
1.09
gnomAD pLI
0.02
gnomAD missense Z
-0.14
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

  • Centrosomal protein of 19kDa
  • CEP19-like protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP19 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 CEP19 as an antibody target. Whether an autoantibody or antibody against CEP19 could matter depends on whether native CEP19 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP19 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 CEP19 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CEP19. 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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