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Aliases for KIAA0196 Gene

Aliases for KIAA0196 Gene

  • KIAA0196 2 3
  • Strumpellin 2 3 4
  • RTSC 3 6
  • SPG8 3 6
  • Spastic Paraplegia 8 (Autosomal Dominant) 2
  • WASH Complex Subunit Strumpellin 3

External Ids for KIAA0196 Gene

Previous Symbols for KIAA0196 Gene

  • SPG8

Summaries for KIAA0196 Gene

Entrez Gene Summary for KIAA0196 Gene

  • This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]

GeneCards Summary for KIAA0196 Gene

KIAA0196 (KIAA0196) is a Protein Coding gene. Diseases associated with KIAA0196 include spastic paraplegia 8, autosomal dominant and spastic paraplegia 8.

UniProtKB/Swiss-Prot for KIAA0196 Gene

  • Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666).

Gene Wiki entry for KIAA0196 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0196 Gene

Genomics for KIAA0196 Gene

Genomic Location for KIAA0196 Gene

Start:
125,024,260 bp from pter
End:
125,091,840 bp from pter
Size:
67,581 bases
Orientation:
Minus strand

Genomic View for KIAA0196 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA0196 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0196 Gene

Regulatory Elements for KIAA0196 Gene

Proteins for KIAA0196 Gene

  • Protein details for KIAA0196 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12768-STRUM_HUMAN
    Recommended name:
    WASH complex subunit strumpellin
    Protein Accession:
    Q12768
    Secondary Accessions:
    • A8K4R7
    • Q3KQX5
    • Q8TBQ2

    Protein attributes for KIAA0196 Gene

    Size:
    1159 amino acids
    Molecular mass:
    134286 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASH1, WASH2P or WASH3P), FAM21, KIAA1033/SWIP, KIAA0196/strumpellin and CCDC53. The WASH core complex associates via FAM21 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Interacts with VCP, PI4K2A.
    SequenceCaution:
    • Sequence=BAA12109.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIAA0196 Gene

Proteomics data for KIAA0196 Gene at MOPED

Post-translational modifications for KIAA0196 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys461, Lys742, and Lys974

Other Protein References for KIAA0196 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIAA0196 Gene

Domains for KIAA0196 Gene

Protein Domains for KIAA0196 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

STRUM_HUMAN
Family:
  • Belongs to the strumpellin family.:
    • Q12768
genes like me logo Genes that share domains with KIAA0196: view

No data available for Gene Families for KIAA0196 Gene

Function for KIAA0196 Gene

Molecular function for KIAA0196 Gene

GENATLAS Biochemistry: Null
UniProtKB/Swiss-Prot Function: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666).

Gene Ontology (GO) - Molecular Function for KIAA0196 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23331060
genes like me logo Genes that share ontologies with KIAA0196: view

Phenotypes for KIAA0196 Gene

GenomeRNAi human phenotypes for KIAA0196:
genes like me logo Genes that share phenotypes with KIAA0196: view

miRNA for KIAA0196 Gene

miRTarBase miRNAs that target KIAA0196

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA0196 Gene

Localization for KIAA0196 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0196 Gene

Cytoplasm, cytosol. Endoplasmic reticulum. Early endosome. Note=Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord. {ECO:0000269 PubMed:20833645}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0196 Gene COMPARTMENTS Subcellular localization image for KIAA0196 gene
Compartment Confidence
endosome 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KIAA0196 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005769 early endosome IDA 23676666
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
GO:0071203 WASH complex IDA 19922875
genes like me logo Genes that share ontologies with KIAA0196: view

Pathways for KIAA0196 Gene

SuperPathways for KIAA0196 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0196 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IEA --
genes like me logo Genes that share ontologies with KIAA0196: view

No data available for Pathways by source for KIAA0196 Gene

Transcripts for KIAA0196 Gene

Unigene Clusters for KIAA0196 Gene

KIAA0196:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0196 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^
SP1:
SP2: - -
SP3: - - - - - - - - - - - - - - - -
SP4: -
SP5: -
SP6:
SP7:

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for KIAA0196 Gene

GeneLoc Exon Structure for
KIAA0196
ECgene alternative splicing isoforms for
KIAA0196

Expression for KIAA0196 Gene

mRNA expression in normal human tissues for KIAA0196 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KIAA0196 Gene

SOURCE GeneReport for Unigene cluster for KIAA0196 Gene Hs.270043

mRNA Expression by UniProt/SwissProt for KIAA0196 Gene

Q12768-STRUM_HUMAN
Tissue specificity: Expressed ubiquitously.
genes like me logo Genes that share expressions with KIAA0196: view

Orthologs for KIAA0196 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIAA0196 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0196 36
  • 99.71 (n)
  • 100 (a)
KIAA0196 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0196 36
  • 91.54 (n)
  • 97.93 (a)
KIAA0196 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0196 36
  • 92.35 (n)
  • 98.45 (a)
KIAA0196 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia E430025E21Rik 36
  • 88.52 (n)
  • 95.77 (a)
E430025E21Rik 16
E430025E21Rik 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0196 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 93 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1564420 36
  • 88.87 (n)
  • 95.6 (a)
chicken
(Gallus gallus)
Aves KIAA0196 36
  • 81.1 (n)
  • 92.32 (a)
KIAA0196 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0196 37
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24528 36
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0196 36
  • 76.68 (n)
  • 88.6 (a)
Str.16493 36
zebrafish
(Danio rerio)
Actinopterygii strumpellin 36
  • 75.55 (n)
  • 87.66 (a)
strumpellin 37
  • 87 (a)
OneToOne
zgc55908 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007019 36
  • 53.12 (n)
  • 47.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12272 36
  • 50.93 (n)
  • 45.8 (a)
CG12272 37
  • 43 (a)
OneToOne
CG12272 38
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea T05E7.3 36
  • 42.67 (n)
  • 26.35 (a)
T05E7.3 37
  • 24 (a)
OneToOne
T05E7.3 38
  • 22 (a)
rice
(Oryza sativa)
Liliopsida Os04g0398800 36
  • 45.92 (n)
  • 31.69 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2068 37
  • 61 (a)
OneToOne
Species with no ortholog for KIAA0196:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIAA0196 Gene

ENSEMBL:
Gene Tree for KIAA0196 (if available)
TreeFam:
Gene Tree for KIAA0196 (if available)

Paralogs for KIAA0196 Gene

No data available for Paralogs for KIAA0196 Gene

Variants for KIAA0196 Gene

Sequence variations from dbSNP and Humsavar for KIAA0196 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs728532 -- 125,089,187(+) GAAAG(C/T)AGAGA intron-variant
rs1004350 -- 125,074,815(+) TATAC(C/T)ATATA intron-variant
rs1004676 -- 125,076,147(-) AGAAC(C/G)CACTA intron-variant
rs1019705 -- 125,040,246(+) TTTAG(C/T)AGCTG intron-variant
rs1035809 -- 125,036,044(-) CAGGA(A/C)TATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0196 Gene

Variant ID Type Subtype PubMed ID
nsv891434 CNV Gain 21882294
nsv465803 CNV Loss 19166990

Relevant External Links for KIAA0196 Gene

HapMap Linkage Disequilibrium report
KIAA0196
Human Gene Mutation Database (HGMD)
KIAA0196

Disorders for KIAA0196 Gene

(2) OMIM Diseases for KIAA0196 Gene (610657)

UniProtKB/Swiss-Prot

STRUM_HUMAN
  • 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. {ECO:0000269 PubMed:17160902, ECO:0000269 PubMed:23455931, ECO:0000269 PubMed:23881105}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:24065355}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for KIAA0196 Gene

Relevant External Links for KIAA0196

GeneTests
KIAA0196
GeneReviews
KIAA0196
Genetic Association Database (GAD)
KIAA0196
Human Genome Epidemiology (HuGE) Navigator
KIAA0196
genes like me logo Genes that share disorders with KIAA0196: view

Publications for KIAA0196 Gene

  1. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. (PMID: 17160902) Valdmanis P.N. … Rouleau G.A. (Am. J. Hum. Genet. 2007) 2 3 4
  2. The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. (PMID: 23085491) Freeman C. … Reid E. (Biochim. Biophys. Acta 2013) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. (PMID: 23455931) de Bot S.T. … Kamsteeg E.J. (J. Neurol. 2013) 3 4
  5. The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type III+. (PMID: 23676666) Ryder P.V. … Faundez V. (Mol. Biol. Cell 2013) 3 4

Products for KIAA0196 Gene

  • antibodies-online peptides for KIAA0196
  • antibodies-online antibodies for KIAA0196
  • antibodies-online kits for KIAA0196

Sources for KIAA0196 Gene

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