Seroatlas · Human Serome Atlas

KBTBD13

Kelch repeat and BTB domain-containing protein 13

Also known as: hCG_1645727, KBTBD_HUMAN, NEM6

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

Protein identityUniProt · HPA

UniProt accession
C9JR72
Gene
KBTBD13
Ensembl
ENSG00000234438
Chromosome
15
Canonical length
458 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

458 residues, UniProt reviewed canonical sequence.

>C9JR72|KBTBD13
     1  MARGPQTLVQ VWVGGQLFQA DRALLVEHCG FFRGLFRSGM RETRAAEVRL GVLSAGGFRA
    61  TLQVLRGDRP ALAAEDELLQ AVECAAFLQA PALARFLEHN LTSDNCALLC DAAAAFGLRD
   121  VFHSAALFIC DGERELAAEL ALPEARAYVA ALRPSSYAAV STHTPAPGFL EDASRTLCYL
   181  DEEEDAWRTL AALPLEASTL LAGVATLGNK LYIVGGVRGA SKEVVELGFC YDPDGGTWHE
   241  FPSPHQPRYD TALAGFDGRL YAIGGEFQRT PISSVERYDP AAGCWSFVAD LPQPAAGVPC
   301  AQACGRLFVC LWRPADTTAV VEYAVRTDAW LPVAELRRPQ SYGHCMVAHR DSLYVVRNGP
   361  SDDFLHCAID CLNLATGQWT ALPGQFVNSK GALFTAVVRG DTVYTVNRMF TLLYAIEGGT
   421  WRLLREKAGF PRPGSLQTFL LRLPPGAPGP VTSTTAEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KBTBD13 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)
0.27
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 29 nTPM
  • tongue: 6.4 nTPM
  • heart muscle: 3.7 nTPM
  • blood vessel: 2.2 nTPM
  • cervix: 0.6 nTPM
  • testis: 0.6 nTPM

Single-cell type

  • myonuclei: 14 nCPM
  • differentiating spermatogonia: 7.3 nCPM
  • cardiomyocytes: 5.6 nCPM
  • thymic myoid cells: 2.7 nCPM
  • undifferentiated spermatogonia: 2.1 nCPM
  • early primary spermatocytes: 1.9 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 0.6 nTPM
  • cerebellum: 0.5 nTPM
  • hippocampal formation: 0.2 nTPM
  • midbrain: 0.2 nTPM
  • amygdala: 0.1 nTPM
  • basal ganglia: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KBTBD13.

Disease | AllUniProt

Conditions KBTBD13 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 739 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Nemaline myopathy 6

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)
1.87
gnomAD pLI
0
gnomAD missense Z
-0.59
DepMap mean gene effect
-0.03
DepMap dependency class
none

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 KBTBD13 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 KBTBD13 as an antibody target. Whether an autoantibody or antibody against KBTBD13 could matter depends on whether native KBTBD13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KBTBD13 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 KBTBD13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KBTBD13. 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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