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Q12768

- STRUM_HUMAN

UniProt

Q12768 - STRUM_HUMAN

Protein

WASH complex subunit strumpellin

Gene

KIAA0196

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    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. May be involved in axonal outgrowth.2 Publications

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. endosomal transport Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    WASH complex subunit strumpellin
    Alternative name(s):
    Strumpellin
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:28984. KIAA0196.

    Subcellular locationi

    Cytoplasmcytosol 1 Publication. Endoplasmic reticulum 1 Publication
    Note: Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord.

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. endoplasmic reticulum Source: UniProtKB-SubCell
    3. endosome Source: Ensembl
    4. WASH complex Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti226 – 2261I → T in SPG8; dopamine responsive spasticity. 1 Publication
    VAR_069984
    Natural varianti471 – 4711N → D in SPG8; does not alter subcellular distribution; no effect on its binding to VCP. 1 Publication
    VAR_031955
    Natural varianti619 – 6191L → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. 1 Publication
    VAR_031956
    Natural varianti626 – 6261V → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. 1 Publication
    VAR_031957
    Natural varianti696 – 6961G → A in SPG8. 1 Publication
    VAR_069985
    Ritscher-Schinzel syndrome (RTSC) [MIM:220210]: A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi220210. phenotype.
    603563. phenotype.
    Orphaneti7. 3C syndrome.
    100989. Autosomal dominant spastic paraplegia type 8.
    PharmGKBiPA142671624.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11591159WASH complex subunit strumpellinPRO_0000050733Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei917 – 9171Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ12768.
    PaxDbiQ12768.
    PRIDEiQ12768.

    PTM databases

    PhosphoSiteiQ12768.

    Expressioni

    Tissue specificityi

    Expressed ubiquitously.1 Publication

    Gene expression databases

    ArrayExpressiQ12768.
    BgeeiQ12768.
    CleanExiHS_KIAA0196.
    GenevestigatoriQ12768.

    Organism-specific databases

    HPAiCAB034216.
    CAB034219.

    Interactioni

    Subunit structurei

    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. Interacts with VCP.2 Publications

    Protein-protein interaction databases

    BioGridi115226. 17 interactions.
    IntActiQ12768. 2 interactions.
    STRINGi9606.ENSP00000318016.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12768.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the strumpellin family.Curated

    Phylogenomic databases

    eggNOGiNOG274491.
    HOGENOMiHOG000258245.
    HOVERGENiHBG102793.
    InParanoidiQ12768.
    OMAiTQQAKMR.
    OrthoDBiEOG7H1JJS.
    PhylomeDBiQ12768.
    TreeFamiTF314480.

    Family and domain databases

    InterProiIPR019393. WASH_strumpellin.
    [Graphical view]
    PANTHERiPTHR15691. PTHR15691. 1 hit.
    PfamiPF10266. Strumpellin. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q12768-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK     50
    YGDIIFDFSY FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ 100
    SVHKYIVDLN RYLDDLNEGV YIQQTLETVL LNEDGKQLLC EALYLYGVML 150
    LVIDQKIEGE VRERMLVSYY RYSAARSSAD SNMDDICKLL RSTGYSSQPG 200
    AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA YPLPEHRSTA 250
    LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL 300
    VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL 350
    REEMVLDNIP KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL 400
    TDSRYNPRIL FQLLLDTAQF EFILKEMFKQ MLSEKQTKWE HYKKEGSERM 450
    TELADVFSGV KPLTRVEKNE NLQAWFREIS KQILSLNYDD STAAGRKTVQ 500
    LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI KEEVLITMQI 550
    VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI 600
    NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII 650
    EVPTRLDKDK LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV 700
    DPKQLLEDGI RKELVKRVAF ALHRGLIFNP RAKPSELMPK LKELGATMDG 750
    FHRSFEYIQD YVNIYGLKIW QEEVSRIINY NVEQECNNFL RTKIQDWQSM 800
    YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI DQLNTWYDMK 850
    THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL 900
    RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK 950
    VGQMQILRQQ IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL 1000
    PYPKEDNTLL YEITAYLEAA GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ 1050
    LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL LTLLKQFHSR YTEQFLALIG 1100
    QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR RVAEAHVPNF 1150
    IFDEFRTVL 1159
    Length:1,159
    Mass (Da):134,286
    Last modified:November 1, 1997 - v1
    Checksum:iD6156D359981FC5F
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti229 – 2291L → R in AAH26951. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti226 – 2261I → T in SPG8; dopamine responsive spasticity. 1 Publication
    VAR_069984
    Natural varianti471 – 4711N → D in SPG8; does not alter subcellular distribution; no effect on its binding to VCP. 1 Publication
    VAR_031955
    Natural varianti619 – 6191L → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. 1 Publication
    VAR_031956
    Natural varianti626 – 6261V → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. 1 Publication
    VAR_031957
    Natural varianti696 – 6961G → A in SPG8. 1 Publication
    VAR_069985

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS6355.1.
    RefSeqiNP_055661.3. NM_014846.3.
    UniGeneiHs.270043.

    Genome annotation databases

    EnsembliENST00000318410; ENSP00000318016; ENSG00000164961.
    GeneIDi9897.
    KEGGihsa:9897.
    UCSCiuc003yrt.3. human.

    Polymorphism databases

    DMDMi2495719.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS6355.1.
    RefSeqi NP_055661.3. NM_014846.3.
    UniGenei Hs.270043.

    3D structure databases

    ProteinModelPortali Q12768.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115226. 17 interactions.
    IntActi Q12768. 2 interactions.
    STRINGi 9606.ENSP00000318016.

    PTM databases

    PhosphoSitei Q12768.

    Polymorphism databases

    DMDMi 2495719.

    Proteomic databases

    MaxQBi Q12768.
    PaxDbi Q12768.
    PRIDEi Q12768.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318410 ; ENSP00000318016 ; ENSG00000164961 .
    GeneIDi 9897.
    KEGGi hsa:9897.
    UCSCi uc003yrt.3. human.

    Organism-specific databases

    CTDi 9897.
    GeneCardsi GC08M126586.
    GeneReviewsi KIAA0196.
    HGNCi HGNC:28984. KIAA0196.
    HPAi CAB034216.
    CAB034219.
    MIMi 220210. phenotype.
    603563. phenotype.
    610657. gene.
    neXtProti NX_Q12768.
    Orphaneti 7. 3C syndrome.
    100989. Autosomal dominant spastic paraplegia type 8.
    PharmGKBi PA142671624.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG274491.
    HOGENOMi HOG000258245.
    HOVERGENi HBG102793.
    InParanoidi Q12768.
    OMAi TQQAKMR.
    OrthoDBi EOG7H1JJS.
    PhylomeDBi Q12768.
    TreeFami TF314480.

    Miscellaneous databases

    GeneWikii KIAA0196.
    GenomeRNAii 9897.
    NextBioi 37315.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12768.
    Bgeei Q12768.
    CleanExi HS_KIAA0196.
    Genevestigatori Q12768.

    Family and domain databases

    InterProi IPR019393. WASH_strumpellin.
    [Graphical view ]
    PANTHERi PTHR15691. PTHR15691. 1 hit.
    Pfami PF10266. Strumpellin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. "Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases."
      Clemen C.S., Tangavelou K., Strucksberg K.H., Just S., Gaertner L., Regus-Leidig H., Stumpf M., Reimann J., Coras R., Morgan R.O., Fernandez M.P., Hofmann A., Muller S., Schoser B., Hanisch F.G., Rottbauer W., Blumcke I., von Horsten S., Eichinger L., Schroder R.
      Brain 133:2920-2941(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH VCP, FUNCTION, CHARACTERIZATION OF VARIANT SPG8 ASP-471.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort."
      Elliott A.M., Simard L.R., Coghlan G., Chudley A.E., Chodirker B.N., Greenberg C.R., Burch T., Ly V., Hatch G.M., Zelinski T.
      J. Med. Genet. 50:819-822(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RTSC.
    10. "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.
    11. "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.
    12. "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.

    Entry informationi

    Entry nameiSTRUM_HUMAN
    AccessioniPrimary (citable) accession number: Q12768
    Secondary accession number(s): A8K4R7, Q3KQX5, Q8TBQ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 104 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3