KLHDC3

Protein-coding gene in the species Homo sapiens
KLHDC3
Identifiers
AliasesKLHDC3, PEAS, dJ20C7.3, kelch domain containing 3
External IDsOMIM: 611248; MGI: 2651568; HomoloGene: 14290; GeneCards: KLHDC3; OMA:KLHDC3 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for KLHDC3
Genomic location for KLHDC3
Band6p21.1Start43,014,103 bp[1]
End43,021,298 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for KLHDC3
Genomic location for KLHDC3
Band17 22.9 cM|17 CStart46,985,476 bp[2]
End46,991,840 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right testis

  • left testis

  • right frontal lobe

  • prefrontal cortex

  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • muscle of thigh

  • Brodmann area 9

  • triceps brachii muscle

  • nucleus accumbens
Top expressed in
  • seminiferous tubule

  • primary visual cortex

  • superior frontal gyrus

  • dentate gyrus of hippocampal formation granule cell

  • right ventricle

  • muscle of thigh

  • yolk sac

  • temporal muscle

  • ankle

  • secondary oocyte
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
SpeciesHumanMouse
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 MbChr 17: 46.99 – 46.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kelch domain-containing protein 3 is a protein that in humans is encoded by the KLHDC3 gene.[5][6]

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.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124702 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063576 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ohinata Y, Sutou S, Kondo M, Takahashi T, Mitsui Y (Nov 2002). "Male-enhanced antigen-1 gene flanked by two overlapping genes is expressed in late spermatogenesis". Biol Reprod. 67 (6): 1824–31. doi:10.1095/biolreprod.101.002550. PMID 12444059.
  6. ^ a b "Entrez Gene: KLHDC3 kelch domain containing 3".

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.


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