Seroatlas · Human Serome Atlas

KLHL24

Kelch-like protein 24

Also known as: DRE1, FLJ20059, KLH24_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q6TFL4
Gene
KLHL24
Ensembl
ENSG00000114796
Chromosome
3
Canonical length
600 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

600 residues, UniProt reviewed canonical sequence.

>Q6TFL4|KLHL24
     1  MVLILGRRLN REDLGVRDSP ATKRKVFEMD PKSLTGHEFF DFSSGSSHAE NILQIFNEFR
    61  DSRLFTDVII CVEGKEFPCH RAVLSACSSY FRAMFCNDHR ESREMLVEIN GILAEAMECF
   121  LQYVYTGKVK ITTENVQYLF ETSSLFQISV LRDACAKFLE EQLDPCNCLG IQRFADTHSL
   181  KTLFTKCKNF ALQTFEDVSQ HEEFLELDKD ELIDYICSDE LVIGKEEMVF EAVMRWVYRA
   241  VDLRRPLLHE LLTHVRLPLL HPNYFVQTVE VDQLIQNSPE CYQLLHEARR YHILGNEMMS
   301  PRTRPRRSTG YSEVIVVVGG CERVGGFNLP YTECYDPVTG EWKSLAKLPE FTKSEYAVCA
   361  LRNDILVSGG RINSRDVWIY NSQLNIWIRV ASLNKGRWRH KMAVLLGKVY VVGGYDGQNR
   421  LSSVECYDSF SNRWTEVAPL KEAVSSPAVT SCVGKLFVIG GGPDDNTCSD KVQSYDPETN
   481  SWLLRAAIPI AKRCITAVSL NNLIYVAGGL TKAIYCYDPV EDYWMHVQNT FSRQENCGMS
   541  VCNGKIYILG GRRENGEATD TILCYDPATS IITGVAAMPR PVSYHGCVTI HRYNEKCFKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL24 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
43 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 43 nTPM
  • skeletal muscle: 41 nTPM
  • parathyroid gland: 39 nTPM
  • bone marrow: 39 nTPM
  • heart muscle: 39 nTPM
  • thyroid gland: 22 nTPM

Single-cell type

  • myonuclei: 622 nCPM
  • thymic myoid cells: 356 nCPM
  • cardiomyocytes: 310 nCPM
  • neutrophils: 302 nCPM
  • corticotrophs: 261 nCPM
  • oligodendrocytes: 235 nCPM

Immune cell

  • basophil: 43 nTPM
  • neutrophil: 41 nTPM
  • naive B-cell: 28 nTPM
  • memory B-cell: 26 nTPM
  • eosinophil: 25 nTPM
  • intermediate monocyte: 23 nTPM

Brain region

  • cerebellum: 277 nTPM
  • cerebral cortex: 199 nTPM
  • white matter: 187 nTPM
  • thalamus: 173 nTPM
  • pons: 172 nTPM
  • basal ganglia: 171 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL24.

Disease | AllUniProt

Conditions KLHL24 is implicated in, by any mechanism.

  • Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy (EBS6) MIM:617294
  • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (CMH29) MIM:620236

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 138 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)
0.65
gnomAD pLI
0
gnomAD missense Z
2.88
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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 KLHL24 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 KLHL24 as an antibody target. Whether an autoantibody or antibody against KLHL24 could matter depends on whether native KLHL24 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLHL24 is annotated at the cell surface, where native KLHL24 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KLHL24 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KLHL24. 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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