KIAA0196

WASHC5
Identifiers
Aliases	WASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDs	OMIM: 610657; MGI: 2146110; HomoloGene: 8898; GeneCards: WASHC5; OMA:WASHC5 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	125,091,819 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	59,246,016 bp
RNA expression pattern
	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
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; cytosol; endosome; early endosome; WASH complex; endoplasmic reticulum; nucleoplasm; neuron projection; soma;
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
	9897
	223593
	ENSG00000164961
	ENSMUSG00000022350
	Q12768
	Q8C2E7
	NM_014846; NM_001330609
	NM_153548
	NP_001317538; NP_055661
	NP_705776
	Wikidata
View/Edit Human	View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164961 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022350 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: KIAA0196 KIAA0196".
^ 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.
^ 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). doi:10.1186/s13023-015-0359-x. ISSN 1750-1172. PMC 4647479. PMID 26572744.{{cite journal}}: CS1 maint: unflagged free DOI (link)

External links

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

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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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.
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164961 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[entrez-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). doi:10.1186/s13023-015-0359-x. ISSN 1750-1172. PMC 4647479. PMID 26572744.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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References

External links

Further reading