Seroatlas · Human Serome Atlas

KLHL20

Kelch-like protein 20

Also known as: KHLHX, KLEIP, KLH20_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9Y2M5
Gene: KLHL20
Ensembl: ENSG00000076321
Chromosome: 1
Canonical length: 609 aa
Protein class: Predicted intracellular proteins
Subcellular location: Golgi apparatus,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

609 residues, UniProt reviewed canonical sequence.

>Q9Y2M5|KLHL20
     1  MEGKPMRRCT NIRPGETGMD VTSRCTLGDP NKLPEGVPQP ARMPYISDKH PRQTLEVINL
    61  LRKHRELCDV VLVVGAKKIY AHRVILSACS PYFRAMFTGE LAESRQTEVV IRDIDERAME
   121  LLIDFAYTSQ ITVEEGNVQT LLPAACLLQL AEIQEACCEF LKRQLDPSNC LGIRAFADTH
   181  SCRELLRIAD KFTQHNFQEV MESEEFMLLP ANQLIDIISS DELNVRSEEQ VFNAVMAWVK
   241  YSIQERRPQL PQVLQHVRLP LLSPKFLVGT VGSDPLIKSD EECRDLVDEA KNYLLLPQER
   301  PLMQGPRTRP RKPIRCGEVL FAVGGWCSGD AISSVERYDP QTNEWRMVAS MSKRRCGVGV
   361  SVLDDLLYAV GGHDGSSYLN SVERYDPKTN QWSSDVAPTS TCRTSVGVAV LGGFLYAVGG
   421  QDGVSCLNIV ERYDPKENKW TRVASMSTRR LGVAVAVLGG FLYAVGGSDG TSPLNTVERY
   481  NPQENRWHTI APMGTRRKHL GCAVYQDMIY AVGGRDDTTE LSSAERYNPR TNQWSPVVAM
   541  TSRRSGVGLA VVNGQLMAVG GFDGTTYLKT IEVFDPDANT WRLYGGMNYR RLGGGVGVIK
   601  MTHCESHIW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL20 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: 15 nTPM

Expression across tissuesHPA

Tissue

liver: 15 nTPM
testis: 15 nTPM
tongue: 13 nTPM
adipose tissue: 13 nTPM
ovary: 13 nTPM
endometrium: 13 nTPM

Single-cell type

prostatic glandular cells: 224 nCPM
early spermatids: 214 nCPM
proximal tubule cells: 132 nCPM
sertoli cells: 120 nCPM
adrenal medulla cells: 117 nCPM
adrenal cortex cells: 112 nCPM

Immune cell

basophil: 7 nTPM
naive CD8 T-cell: 5.7 nTPM
T-reg: 5.7 nTPM
naive CD4 T-cell: 5.6 nTPM
memory CD8 T-cell: 5.5 nTPM
plasmacytoid DC: 4.6 nTPM

Brain region

medulla oblongata: 14 nTPM
cerebellum: 13 nTPM
pons: 13 nTPM
spinal cord: 13 nTPM
basal ganglia: 13 nTPM
white matter: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL20.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 87 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
Neurodevelopmental disorder
Intellectual disability
See cases
KLHL20-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): 0.51
gnomAD pLI: 0.01
gnomAD missense Z: 3.61
DepMap mean gene effect: -0.13
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

Molecular functions

actin binding
ubiquitin-like ligase-substrate adaptor activity
ubiquitin-protein transferase activity
type II interferon binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KLHL20 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 KLHL20 as an antibody target. Whether an autoantibody or antibody against KLHL20 could matter depends on whether native KLHL20 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLHL20 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 KLHL20 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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