KIAA0196

Protein-coding gene in the species Homo sapiens
WASHC5
Identifiers
AliasesWASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDsOMIM: 610657; MGI: 2146110; HomoloGene: 8898; GeneCards: WASHC5; OMA:WASHC5 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for WASHC5
Genomic location for WASHC5
Band8q24.13Start125,024,260 bp[1]
End125,091,819 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for WASHC5
Genomic location for WASHC5
Band15|15 D1Start59,203,846 bp[2]
End59,246,016 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus callosum

  • Achilles tendon

  • stromal cell of endometrium

  • monocyte

  • bone marrow cells

  • epithelium of nasopharynx

  • epithelium of colon

  • islet of Langerhans

  • C1 segment

  • spinal ganglia
Top expressed in
  • endothelial cell of lymphatic vessel

  • hand

  • stroma of bone marrow

  • calvaria

  • epithelium of lens

  • foot

  • vas deferens

  • condyle

  • iris

  • otolith organ
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • cytosol
  • endosome
  • early endosome
  • WASH complex
  • endoplasmic reticulum
  • nucleoplasm
  • neuron projection
  • neuronal cell body
Biological process
  • protein transport
  • endosomal transport
  • oocyte maturation
  • polar body extrusion after meiotic divisions
  • meiotic spindle assembly
  • positive regulation of neuron projection development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9897

223593

Ensembl

ENSG00000164961

ENSMUSG00000022350

UniProt

Q12768

Q8C2E7

RefSeq (mRNA)

NM_014846
NM_001330609

NM_153548

RefSeq (protein)

NP_001317538
NP_055661

NP_705776

Location (UCSC)Chr 8: 125.02 – 125.09 MbChr 15: 59.2 – 59.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

KIAA0196 (also known as strumpellin) is a human gene.[5] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles.[6] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.[7]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164961 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022350 – 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. ^ "Entrez Gene: KIAA0196 KIAA0196".
  6. ^ Seaman, Matthew N. J.; Gautreau, Alexis; Billadeau, Daniel D. (2013-11-01). "Retromer-mediated endosomal protein sorting: all WASHed up!". Trends in Cell Biology. 23 (11): 522–528. doi:10.1016/j.tcb.2013.04.010. ISSN 1879-3088. PMC 3924425. PMID 23721880.
  7. ^ Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni (2015-11-16). "The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8". Orphanet Journal of Rare Diseases. 10 (1): 147. doi:10.1186/s13023-015-0359-x. ISSN 1750-1172. PMC 4647479. PMID 26572744.

External links

  • GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Nagase T, Seki N, Ishikawa K, et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Hedera P, Rainier S, Alvarado D, et al. (1999). "Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q". Am. J. Hum. Genet. 64 (2): 563–569. doi:10.1086/302258. PMC 1377766. PMID 9973294.
  • 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): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–569. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
  • Porkka KP, Tammela TL, Vessella RL, Visakorpi T (2004). "RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer". Genes Chromosomes Cancer. 39 (1): 1–10. doi:10.1002/gcc.10289. PMID 14603436. S2CID 46570803.
  • 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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Valdmanis PN, Meijer IA, Reynolds A, et al. (2007). "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia". Am. J. Hum. Genet. 80 (1): 152–161. doi:10.1086/510782. PMC 1785307. PMID 17160902.


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