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Q12768 (STRUM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
WASH complex subunit strumpellin
Gene names
Name:KIAA0196
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1159 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Ref.6

Subunit structure

Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53. Ref.6

Tissue specificity

Expressed ubiquitously.

Involvement in disease

Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.10

Sequence similarities

Belongs to the strumpellin family.

Sequence caution

The sequence BAA12109.2 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11591159WASH complex subunit strumpellin
PRO_0000050733

Amino acid modifications

Modified residue9171Phosphoserine Ref.5

Natural variations

Natural variant2261I → T in SPG8; dopamine responsive spasticity. Ref.9
VAR_069984
Natural variant4711N → D in SPG8. Ref.8
VAR_031955
Natural variant6191L → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. Ref.8
VAR_031956
Natural variant6261V → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. Ref.8
VAR_031957
Natural variant6961G → A in SPG8. Ref.10
VAR_069985

Experimental info

Sequence conflict2291L → R in AAH26951. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q12768 [UniParc].

Last modified November 1, 1997. Version 1.
Checksum: D6156D359981FC5F

FASTA1,159134,286
        10         20         30         40         50         60 
MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK YGDIIFDFSY 

        70         80         90        100        110        120 
FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ SVHKYIVDLN RYLDDLNEGV 

       130        140        150        160        170        180 
YIQQTLETVL LNEDGKQLLC EALYLYGVML LVIDQKIEGE VRERMLVSYY RYSAARSSAD 

       190        200        210        220        230        240 
SNMDDICKLL RSTGYSSQPG AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA 

       250        260        270        280        290        300 
YPLPEHRSTA LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL 

       310        320        330        340        350        360 
VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL REEMVLDNIP 

       370        380        390        400        410        420 
KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL TDSRYNPRIL FQLLLDTAQF 

       430        440        450        460        470        480 
EFILKEMFKQ MLSEKQTKWE HYKKEGSERM TELADVFSGV KPLTRVEKNE NLQAWFREIS 

       490        500        510        520        530        540 
KQILSLNYDD STAAGRKTVQ LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI 

       550        560        570        580        590        600 
KEEVLITMQI VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI 

       610        620        630        640        650        660 
NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII EVPTRLDKDK 

       670        680        690        700        710        720 
LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV DPKQLLEDGI RKELVKRVAF 

       730        740        750        760        770        780 
ALHRGLIFNP RAKPSELMPK LKELGATMDG FHRSFEYIQD YVNIYGLKIW QEEVSRIINY 

       790        800        810        820        830        840 
NVEQECNNFL RTKIQDWQSM YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI 

       850        860        870        880        890        900 
DQLNTWYDMK THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL 

       910        920        930        940        950        960 
RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK VGQMQILRQQ 

       970        980        990       1000       1010       1020 
IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL PYPKEDNTLL YEITAYLEAA 

      1030       1040       1050       1060       1070       1080 
GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL 

      1090       1100       1110       1120       1130       1140 
LTLLKQFHSR YTEQFLALIG QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR 

      1150 
RVAEAHVPNF IFDEFRTVL 

« Hide

References

« Hide 'large scale' references
[1]"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."
Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.
DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Bone marrow.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
[5]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-917, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex."
Derivery E., Sousa C., Gautier J.J., Lombard B., Loew D., Gautreau A.
Dev. Cell 17:712-723(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION OF THE WASH COMPLEX, IDENTIFICATION IN THE WASH COMPLEX.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia."
Valdmanis P.N., Meijer I.A., Reynolds A., Lei A., MacLeod P., Schlesinger D., Zatz M., Reid E., Dion P.A., Drapeau P., Rouleau G.A.
Am. J. Hum. Genet. 80:152-161(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SPG8 ASP-471; PHE-619 AND PHE-626, CHARACTERIZATION OF VARIANTS SPG8 PHE-619 AND PHE-626.
[9]"Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment."
Bettencourt C., Morris H.R., Singleton A.B., Hardy J., Houlden H.
J. Neurol. 260:2414-2416(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SPG8 THR-226.
[10]"Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene."
de Bot S.T., Vermeer S., Buijsman W., Heister A., Voorendt M., Verrips A., Scheffer H., Kremer H.P., van de Warrenburg B.P., Kamsteeg E.J.
J. Neurol. 260:1765-1769(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SPG8 ALA-696.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D83780 mRNA. Translation: BAA12109.2. Different initiation.
AK291032 mRNA. Translation: BAF83721.1.
CH471060 Genomic DNA. Translation: EAW92081.1.
BC026951 mRNA. Translation: AAH26951.1.
BC106015 mRNA. Translation: AAI06016.1.
RefSeqNP_055661.3. NM_014846.3.
UniGeneHs.270043.

3D structure databases

ProteinModelPortalQ12768.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115226. 14 interactions.
IntActQ12768. 2 interactions.
STRING9606.ENSP00000318016.

PTM databases

PhosphoSiteQ12768.

Polymorphism databases

DMDM2495719.

Proteomic databases

PaxDbQ12768.
PRIDEQ12768.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318410; ENSP00000318016; ENSG00000164961.
GeneID9897.
KEGGhsa:9897.
UCSCuc003yrt.3. human.

Organism-specific databases

CTD9897.
GeneCardsGC08M126586.
HGNCHGNC:28984. KIAA0196.
HPACAB034216.
CAB034219.
MIM603563. phenotype.
610657. gene.
neXtProtNX_Q12768.
Orphanet7. 3C syndrome.
100989. Autosomal dominant spastic paraplegia type 8.
PharmGKBPA142671624.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG274491.
HOGENOMHOG000258245.
HOVERGENHBG102793.
InParanoidQ12768.
OMATQQAKMR.
OrthoDBEOG7H1JJS.
PhylomeDBQ12768.
TreeFamTF314480.

Gene expression databases

ArrayExpressQ12768.
BgeeQ12768.
CleanExHS_KIAA0196.
GenevestigatorQ12768.

Family and domain databases

InterProIPR019393. WASH_strumpellin.
[Graphical view]
PANTHERPTHR15691. PTHR15691. 1 hit.
PfamPF10266. Strumpellin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKIAA0196.
GenomeRNAi9897.
NextBio37315.
SOURCESearch...

Entry information

Entry nameSTRUM_HUMAN
AccessionPrimary (citable) accession number: Q12768
Secondary accession number(s): A8K4R7, Q3KQX5, Q8TBQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: March 19, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM