KLHDC3

KLHDC3
Identifiers
Aliases	KLHDC3, PEAS, dJ20C7.3, kelch domain containing 3
External IDs	OMIM: 611248 MGI: 2651568 HomoloGene: 14290 GeneCards: KLHDC3
Gene location (Human) Chr. Chromosome 6 (human) Band 6p21.1 Start 43,014,103 bp End 43,021,298 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 22.9 cM|17 C Start 46,985,476 bp End 46,991,840 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex cerebellar hemisphere Brodmann area 9 triceps brachii muscle nucleus accumbens amygdala cingulate gyrus caudate nucleus putamen ganglionic eminence Top expressed in seminiferous tubule superior frontal gyrus right ventricle yolk sac temporal muscle ankle secondary oocyte digastric muscle cerebellar cortex skeletal muscle tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function chromatin binding protein binding Cellular component cytoplasm cytosol nucleoplasm Biological process reciprocal meiotic recombination IRE1-mediated unfolded protein response meiosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 116138 71765 Ensembl ENSG00000124702 ENSMUSG00000063576 UniProt Q9BQ90 Q8VEM9 RefSeq (mRNA) NM_001242872 NM_057161 NM_001163729 NM_027910 RefSeq (protein) NP_476502 NP_001157201 NP_082186 Location (UCSC) Chr 6: 43.01 – 43.02 Mb Chr 17: 46.99 – 46.99 Mb PubMed search
Wikidata
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Kelch domain-containing protein 3 is a protein that in humans is encoded by the KLHDC3 gene.

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2 (RAG2), a protein involved in the activation of the V(D)J recombination. This gene is found to express specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasm and meiotic chromatin, which suggests that this gene may be involved in meiotic recombination.

Further reading

• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
• Ohinata Y, Sutou S, Mitsui Y (2003). "Peas-Mea1-Ppp2r5d overlapping gene complex: a transposon mediated-gene formation in mammals". DNA Res. 10 (2): 79–84. doi:10.1093/dnares/10.2.79. PMID 12755172.
• Ohinata Y, Sutou S, Mitsui Y (2003). "A novel testis-specific RAG2-like protein, Peas: its expression in pachytene spermatocyte cytoplasm and meiotic chromatin". FEBS Lett. 537 (1–3): 1–5. doi:10.1016/S0014-5793(03)00036-X. PMID 12606021. S2CID 45307604.
• Hermey G, Keat SJ, Madsen P, et al. (2003). "Characterization of sorCS1, an alternatively spliced receptor with completely different cytoplasmic domains that mediate different trafficking in cells". J. Biol. Chem. 278 (9): 7390–6. doi:10.1074/jbc.M210851200. PMID 12482870.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.