KIAA0196: Difference between revisions

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

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Revision as of 14:10, 1 June 2016

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]

Template:PBB Summary

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

@@ Line 1: / Line 1: @@
 {{Infobox_gene}}
 '''KIAA0196''' (also known as '''strumpellin''') is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KIAA0196 KIAA0196| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9897| accessdate = }}</ref> The product is a protein that is a component of the [[WASH complex]], which regulates [[actin]] assembly on intracellular [[vesicle (biology and chemistry)|vesicle]]s.<ref>{{Cite journal|last=Seaman|first=Matthew N. J.|last2=Gautreau|first2=Alexis|last3=Billadeau|first3=Daniel D.|date=2013-11-01|title=Retromer-mediated endosomal protein sorting: all WASHed up!|url=https://www.ncbi.nlm.nih.gov/pubmed/23721880|journal=Trends in Cell Biology|volume=23|issue=11|pages=522–528|doi=10.1016/j.tcb.2013.04.010|issn=1879-3088|pmc=3924425|pmid=23721880}}</ref> Mutations in KIAA0196 are implicated in some forms of [[hereditary spastic paraplegia]].<ref>{{Cite journal|last=Jahic|first=Amir|last2=Khundadze|first2=Mukhran|last3=Jaenisch|first3=Nadine|last4=Schüle|first4=Rebecca|last5=Klimpe|first5=Sven|last6=Klebe|first6=Stephan|last7=Frahm|first7=Christiane|last8=Kassubek|first8=Jan|last9=Stevanin|first9=Giovanni|date=2015-11-16|title=The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8|url=http://www.ojrd.com/content/10/1/147|journal=Orphanet Journal of Rare Diseases|language=En|volume=10|issue=1|doi=10.1186/s13023-015-0359-x|issn=1750-1172|pmc=4647479|pmid=26572744}}</ref>
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 }}
+==References==
+{{reflist}}
 ==External links==
 * [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg8  GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin]
-==References==
-{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–174 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
+*{{cite journal  |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–174 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
 *{{cite journal  | author=Nagase T |title=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 |journal=DNA Res. |volume=3 |issue= 1 |pages= 17–24 |year= 1996 |pmid= 8724849 |doi=10.1093/dnares/3.1.17  |name-list-format=vanc| author2=Seki N  | author3=Ishikawa K  | display-authors=3  | last4=Tanaka  | first4=A  | last5=Nomura  | first5=N  }}
 *{{cite journal  | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–156 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |name-list-format=vanc| author2=Yoshitomo-Nakagawa K  | author3=Maruyama K  | display-authors=3  | last4=Suyama  | first4=A  | last5=Sugano  | first5=S  }}
@@ Line 23: / Line 24: @@
 *{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
 *{{cite journal  | author=Gevaert K |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–569 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810  |name-list-format=vanc| author2=Goethals M  | author3=Martens L  | display-authors=3  | last4=Van Damme  | first4=Jozef  | last5=Staes  | first5=An  | last6=Thomas  | first6=Grégoire R.  | last7=Vandekerckhove  | first7=Joël }}
-*{{cite journal  | author=Porkka KP, Tammela TL, Vessella RL, Visakorpi T |title=RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer |journal=Genes Chromosomes Cancer |volume=39 |issue= 1 |pages= 1–10 |year= 2004 |pmid= 14603436 |doi= 10.1002/gcc.10289 }}
+*{{cite journal  |vauthors=Porkka KP, Tammela TL, Vessella RL, Visakorpi T |title=RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer |journal=Genes Chromosomes Cancer |volume=39 |issue= 1 |pages= 1–10 |year= 2004 |pmid= 14603436 |doi= 10.1002/gcc.10289 }}
 *{{cite journal  | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
 *{{cite journal  | author=Kimura K |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  | pmc=1356129  |name-list-format=vanc| author2=Wakamatsu A  | author3=Suzuki Y  | display-authors=3  | last4=Ota  | first4=T  | last5=Nishikawa  | first5=T  | last6=Yamashita  | first6=R  | last7=Yamamoto  | first7=J  | last8=Sekine  | first8=M  | last9=Tsuritani  | first9=K }}