Seroatlas · Human Serome Atlas

KLHL40

Kelch-like protein 40

Also known as: KBTBD5, KLH40_HUMAN, NEM8, SRYP

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

Protein identityUniProt · HPA

UniProt accession: Q2TBA0
Gene: KLHL40
Ensembl: ENSG00000157119
Chromosome: 3
Canonical length: 621 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

621 residues, UniProt reviewed canonical sequence.

>Q2TBA0|KLHL40
     1  MALGLEQAEE QRLYQQTLLQ DGLKDMLDHG KFLDCVVRAG EREFPCHRLV LAACSPYFRA
    61  RFLAEPERAG ELHLEEVSPD VVAQVLHYLY TSEIALDEAS VQDLFAAAHR FQIPSIFTIC
   121  VSFLQKRLCL SNCLAVFRLG LLLDCARLAV AARDFICAHF TLVARDADFL GLSADELIAI
   181  ISSDGLNVEK EEAVFEAVMR WAGSGDAEAQ AERQRALPTV FESVRCRLLP RAFLESRVER
   241  HPLVRAQPEL LRKVQMVKDA HEGRITTLRK KKKGKDGAGA KEADKGTSKA KAEEDEEAER
   301  ILPGILNDTL RFGMFLQDLI FMISEEGAVA YDPAANECYC ASLSNQVPKN HVSLVTKENQ
   361  VFVAGGLFYN EDNKEDPMSA YFLQFDHLDS EWLGMPPLPS PRCLFGLGEA LNSIYVVGGR
   421  EIKDGERCLD SVMCYDRLSF KWGESDPLPY VVYGHTVLSH MDLVYVIGGK GSDRKCLNKM
   481  CVYDPKKFEW KELAPMQTAR SLFGATVHDG RIIVAAGVTD TGLTSSAEVY SITDNKWAPF
   541  EAFPQERSSL SLVSLVGTLY AIGGFATLET ESGELVPTEL NDIWRYNEEE KKWEGVLREI
   601  AYAAGATFLP VRLNVLCLTK M

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL40 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): 0.29
Highest tissue expression: 418 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 418 nTPM
tongue: 151 nTPM
heart muscle: 4.4 nTPM
salivary gland: 4 nTPM
esophagus: 3.8 nTPM
prostate: 2.8 nTPM

Single-cell type

thymic myoid cells: 131 nCPM
myonuclei: 26 nCPM
late spermatids: 16 nCPM
early spermatids: 8.7 nCPM
retinal bipolar cells: 7 nCPM
epicardial cells: 2.3 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

white matter: 1.7 nTPM
basal ganglia: 1.1 nTPM
cerebral cortex: 1.1 nTPM
thalamus: 0.9 nTPM
midbrain: 0.8 nTPM
pons: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL40.

Disease | AllUniProt

Conditions KLHL40 is implicated in, by any mechanism.

Nemaline myopathy 8 (NEM8) MIM:615348

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 591 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nemaline myopathy 8
KLHL40-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): 0.92
gnomAD pLI: 0
gnomAD missense Z: 0.02
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ubiquitin-like ligase-substrate adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KLHL40 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

LMOD3

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KLHL40 as an antibody target. Whether an autoantibody or antibody against KLHL40 could matter depends on whether native KLHL40 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLHL40 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 KLHL40 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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