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Q12768

- STRUM_HUMAN

UniProt

Q12768 - STRUM_HUMAN

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Protein

WASH complex subunit strumpellin

Gene

KIAA0196

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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. endoplasmic reticulum Source: UniProtKB-KW
  2. endosome Source: Ensembl
  3. WASH complex Source: UniProtKB
Complete GO annotation...

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

BgeeiQ12768.
CleanExiHS_KIAA0196.
ExpressionAtlasiQ12768. baseline and differential.
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. 18 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.
GeneTreeiENSGT00390000011137.
HOGENOMiHOG000258245.
HOVERGENiHBG102793.
InParanoidiQ12768.
KOiK18464.
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 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK
60 70 80 90 100
YGDIIFDFSY FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ
110 120 130 140 150
SVHKYIVDLN RYLDDLNEGV YIQQTLETVL LNEDGKQLLC EALYLYGVML
160 170 180 190 200
LVIDQKIEGE VRERMLVSYY RYSAARSSAD SNMDDICKLL RSTGYSSQPG
210 220 230 240 250
AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA YPLPEHRSTA
260 270 280 290 300
LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL
310 320 330 340 350
VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL
360 370 380 390 400
REEMVLDNIP KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL
410 420 430 440 450
TDSRYNPRIL FQLLLDTAQF EFILKEMFKQ MLSEKQTKWE HYKKEGSERM
460 470 480 490 500
TELADVFSGV KPLTRVEKNE NLQAWFREIS KQILSLNYDD STAAGRKTVQ
510 520 530 540 550
LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI KEEVLITMQI
560 570 580 590 600
VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI
610 620 630 640 650
NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII
660 670 680 690 700
EVPTRLDKDK LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV
710 720 730 740 750
DPKQLLEDGI RKELVKRVAF ALHRGLIFNP RAKPSELMPK LKELGATMDG
760 770 780 790 800
FHRSFEYIQD YVNIYGLKIW QEEVSRIINY NVEQECNNFL RTKIQDWQSM
810 820 830 840 850
YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI DQLNTWYDMK
860 870 880 890 900
THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL
910 920 930 940 950
RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK
960 970 980 990 1000
VGQMQILRQQ IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL
1010 1020 1030 1040 1050
PYPKEDNTLL YEITAYLEAA GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ
1060 1070 1080 1090 1100
LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL LTLLKQFHSR YTEQFLALIG
1110 1120 1130 1140 1150
QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR RVAEAHVPNF

IFDEFRTVL
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. 18 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 GC08M126778.
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.
GeneTreei ENSGT00390000011137.
HOGENOMi HOG000258245.
HOVERGENi HBG102793.
InParanoidi Q12768.
KOi K18464.
OMAi TQQAKMR.
OrthoDBi EOG7H1JJS.
PhylomeDBi Q12768.
TreeFami TF314480.

Miscellaneous databases

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

Gene expression databases

Bgeei Q12768.
CleanExi HS_KIAA0196.
ExpressionAtlasi Q12768. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 105 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