KLHDC3
Kelch domain-containing protein 3
Also known as: dJ20C7.3, hPeas, KLDC3_HUMAN, PEAS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BQ90
- Gene
- KLHDC3
- Ensembl
- ENSG00000124702
- Chromosome
- 6
- Canonical length
- 382 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]
Canonical amino-acid sequenceUniProt
382 residues, UniProt reviewed canonical sequence.
>Q9BQ90|KLHDC3
1 MLRWTVHLEG GPRRVNHAAV AVGHRVYSFG GYCSGEDYET LRQIDVHIFN AVSLRWTKLP
61 PVKSAIRGQA PVVPYMRYGH STVLIDDTVL LWGGRNDTEG ACNVLYAFDV NTHKWFTPRV
121 SGTVPGARDG HSACVLGKIM YIFGGYEQQA DCFSNDIHKL DTSTMTWTLI CTKGSPARWR
181 DFHSATMLGS HMYVFGGRAD RFGPFHSNNE IYCNRIRVFD TRTEAWLDCP PTPVLPEGRR
241 SHSAFGYNGE LYIFGGYNAR LNRHFHDLWK FNPVSFTWKK IEPKGKGPCP RRRQCCCIVG
301 DKIVLFGGTS PSPEEGLGDE FDLIDHSDLH ILDFSPSLKT LCKLAVIQYN LDQSCLPHDI
361 RWELNAMTTN SNISRPIVSS HGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KLHDC3 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)
- 0.25
- Highest tissue expression
- 371 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 371 nTPM
- cerebral cortex: 225 nTPM
- tongue: 190 nTPM
- testis: 187 nTPM
- amygdala: 141 nTPM
- cerebellum: 140 nTPM
Single-cell type
- late spermatids: 2,542 nCPM
- late primary spermatocytes: 570 nCPM
- early spermatids: 557 nCPM
- megakaryocytes: 204 nCPM
- extravillous trophoblasts: 140 nCPM
- migrating cytotrophoblasts: 134 nCPM
Immune cell
- eosinophil: 100 nTPM
- myeloid DC: 90 nTPM
- classical monocyte: 83 nTPM
- intermediate monocyte: 79 nTPM
- total PBMC: 75 nTPM
- naive CD4 T-cell: 65 nTPM
Brain region
- cerebral cortex: 182 nTPM
- basal ganglia: 161 nTPM
- thalamus: 147 nTPM
- hippocampal formation: 140 nTPM
- pons: 139 nTPM
- midbrain: 137 nTPM
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)
- 0.15
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.45
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- proteasome-mediated ubiquitin-dependent protein catabolic process
- protein ubiquitination
- reciprocal meiotic recombination
- ubiquitin-dependent protein catabolic process via the C-end degron rule pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Kelch repeat type 1
- Kelch-type beta-propeller
- Kelch motif
- KLHDC2/KLHL20/DRC7 Kelch-repeats domain
- Kelch domain-containing protein 3-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KLHDC3 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 KLHDC3 as an antibody target. Whether an autoantibody or antibody against KLHDC3 could matter depends on whether native KLHDC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KLHDC3 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 KLHDC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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