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{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox_gene}}
{{PBB_Controls
'''KIAA0196''' (also known as '''strumpellin''') is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KIAA0196 KIAA0196| url = https://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|last1=Seaman|first1=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!|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|last1=Jahic|first1=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|journal=Orphanet Journal of Rare Diseases|language=En|volume=10|issue=1|page=147|doi=10.1186/s13023-015-0359-x|issn=1750-1172|pmc=4647479|pmid=26572744 |doi-access=free }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = KIAA0196
| HGNCid = 28984
| Symbol = KIAA0196
| AltSymbols =; MGC111053; SPG8
| OMIM = 610657
| ECnumber =
| Homologene = 8898
| MGIid = 2146110
| GeneAtlas_image1 = PBB_GE_KIAA0196_201985_at_tn.png
| Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 9897
| Hs_Ensembl = ENSG00000164961
| Hs_RefseqProtein = NP_055661
| Hs_RefseqmRNA = NM_014846
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 8
| Hs_GenLoc_start = 126105691
| Hs_GenLoc_end = 126173191
| Hs_Uniprot = Q12768
| Mm_EntrezGene = 223593
| Mm_Ensembl = ENSMUSG00000022350
| Mm_RefseqmRNA = NM_153548
| Mm_RefseqProtein = NP_705776
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 59161679
| Mm_GenLoc_end = 59203848
| Mm_Uniprot = Q3TQ26
}}
}}
'''KIAA0196''' 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>

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{{PBB_Summary
| section_title =
| summary_text =
}}


==References==
==References==
{{reflist}}
{{reflist}}

==External links==
* [https://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]

==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{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 }}
{{PBB_Further_reading
⚫
*{{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-style=vanc| author2=Seki N | author3=Ishikawa K | display-authors=3 | last4=Tanaka | first4=A | last5=Nomura | first5=N |doi-access=free}}
| 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= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
*{{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-style=vanc| author2=Yoshitomo-Nakagawa K | author3=Maruyama K | display-authors=3 | last4=Suyama | first4=A | last5=Sugano | first5=S }}
⚫
*{{cite journal | author=Hedera P |title=Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q |journal=Am. J. Hum. Genet. |volume=64 |issue= 2 |pages= 563–569 |year= 1999 |pmid= 9973294 |doi=10.1086/302258 | pmc=1377766 |name-list-style=vanc| author2=Rainier S | author3=Alvarado D | display-authors=3 | last4=Zhao | first4=X | last5=Williamson | first5=J | last6=Otterud | first6=B | last7=Leppert | first7=M | last8=Fink | first8=J }}
⚫
*{{cite journal | author=Nagase T, Seki N, Ishikawa K, ''et al.'' |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= }}
*{{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-style=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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
⚫
*{{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-style=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 |s2cid=23783563 }}
⚫
*{{cite journal | author=Hedera P, Rainier S, Alvarado D, ''et al.'' |title=Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. |journal=Am. J. Hum. Genet. |volume=64 |issue= 2 |pages= 563-9 |year= 1999 |pmid= 9973294 |doi= }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{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 |s2cid=46570803 |doi-access=free }}
⚫
*{{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-style=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=Gevaert K, Goethals M, Martens L, ''et al.'' |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566-9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
⚫
*{{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-style=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 }}
*{{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 | author=Valdmanis PN |title=Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia |journal=Am. J. Hum. Genet. |volume=80 |issue= 1 |pages= 152–161 |year= 2007 |pmid= 17160902 |doi= 10.1086/510782 | pmc=1785307 |name-list-style=vanc| author2=Meijer IA | author3=Reynolds A | display-authors=3 | last4=Lei | first4=Adrienne | last5=MacLeod | first5=Patrick | last6=Schlesinger | first6=David | last7=Zatz | first7=Mayana | last8=Reid | first8=Evan | last9=Dion | first9=Patrick A. }}
⚫
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
⚫
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |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 }}
⚫
*{{cite journal | author=Valdmanis PN, Meijer IA, Reynolds A, ''et al.'' |title=Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. |journal=Am. J. Hum. Genet. |volume=80 |issue= 1 |pages= 152-61 |year= 2007 |pmid= 17160902 |doi= 10.1086/510782 }}
}}
{{refend}}
{{refend}}

{{KIAA human genes}}



{{gene-8-stub}}
{{gene-8-stub}}

Latest revision as of 16:38, 27 November 2024

WASHC5
Identifiers
AliasesWASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDsOMIM: 610657; MGI: 2146110; HomoloGene: 8898; GeneCards: WASHC5; OMA:WASHC5 - orthologs
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

[edit]
  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.
[edit]

Further reading

[edit]


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