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Aliases for WASHC5 Gene

Aliases for WASHC5 Gene

  • WASH Complex Subunit 5 2 3
  • KIAA0196 2 3 4 5
  • Strumpellin 2 3 4
  • Spastic Paraplegia 8 (Autosomal Dominant) 2
  • WASH Complex Subunit Strumpellin 3
  • RTSC1 3
  • RTSC 3
  • SPG8 3

External Ids for WASHC5 Gene

Previous HGNC Symbols for WASHC5 Gene

  • SPG8
  • KIAA0196

Summaries for WASHC5 Gene

Entrez Gene Summary for WASHC5 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 WASHC5 Gene

WASHC5 (WASH Complex Subunit 5) is a Protein Coding gene. Diseases associated with WASHC5 include Spastic Paraplegia 8, Autosomal Dominant and Ritscher-Schinzel Syndrome. Among its related pathways are Endocytosis.

UniProtKB/Swiss-Prot for WASHC5 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 WASHC5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASHC5 Gene

Genomics for WASHC5 Gene

Regulatory Elements for WASHC5 Gene

Enhancers for WASHC5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F125124 1.2 Ensembl ENCODE 15.8 -33.8 -33782 2.2 ARID4B ZNF48 YY1 GTF3C2 FOS MXD4 TBX21 PPARG MAFF MIER3 WASHC5 TRMT12 NSMCE2 LINC00964 RN7SL329P
GH08F125340 1.5 FANTOM5 Ensembl ENCODE 12.3 -251.0 -250961 4.0 HDGF ELF3 HDAC1 SIN3A RAD21 YY1 FOS JUNB TBX21 IKZF1 TRIB1 NSMCE2 WASHC5 ENSG00000254431 RN7SL329P
GH08F125118 1.2 Ensembl ENCODE 11.5 -27.9 -27893 3.1 HDGF ELF3 WRNIP1 ZFP64 INSM2 SIN3A FEZF1 BRCA1 ZNF2 RAD21 NSMCE2 TRMT12 TRIB1 LINC00964 WASHC5 RN7SL329P
GH08F125069 1 Ensembl ENCODE 11.3 +21.2 21168 3.1 CTCF ZNF175 SIN3A E2F1 GATA3 CTBP1 POLR2A FOSL2 ZNF584 FOS LINC00964 SQLE LOC105375744 NSMCE2 WASHC5 GC08P125034
GH08F125230 1.6 FANTOM5 Ensembl ENCODE 7 -140.0 -139962 3.2 ARID4B SIN3A BRCA1 FOS REST KAT8 MIER3 SMARCA4 RCOR2 STAT3 TRIB1 LINC00964 ENSG00000253106 RNF139-AS1 WASHC5 NSMCE2 RN7SL329P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASHC5 on UCSC Golden Path with GeneCards custom track

Promoters for WASHC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001445170 240 2401 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for WASHC5 Gene

Chromosome:
8
Start:
125,024,260 bp from pter
End:
125,091,840 bp from pter
Size:
67,581 bases
Orientation:
Minus strand

Genomic View for WASHC5 Gene

Genes around WASHC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASHC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASHC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASHC5 Gene

Proteins for WASHC5 Gene

  • Protein details for WASHC5 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 WASHC5 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 WASHC5 Gene

Post-translational modifications for WASHC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WASHC5 Gene

No data available for DME Specific Peptides for WASHC5 Gene

Domains & Families for WASHC5 Gene

Gene Families for WASHC5 Gene

Protein Domains for WASHC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASHC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12768

UniProtKB/Swiss-Prot:

STRUM_HUMAN :
  • Belongs to the strumpellin family.
Family:
  • Belongs to the strumpellin family.
genes like me logo Genes that share domains with WASHC5: view

Function for WASHC5 Gene

Molecular function for WASHC5 Gene

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 WASHC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23331060
genes like me logo Genes that share ontologies with WASHC5: view
genes like me logo Genes that share phenotypes with WASHC5: view

Human Phenotype Ontology for WASHC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WASHC5 Gene

MGI Knock Outs for WASHC5:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WASHC5 Gene

Localization for WASHC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASHC5 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WASHC5 gene
Compartment Confidence
endosome 5
endoplasmic reticulum 3
cytosol 3
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for WASHC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 23676666
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with WASHC5: view

Pathways & Interactions for WASHC5 Gene

SuperPathways for WASHC5 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASHC5: view

Pathways by source for WASHC5 Gene

1 KEGG pathway for WASHC5 Gene

Gene Ontology (GO) - Biological Process for WASHC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001556 oocyte maturation IEA --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IEA --
GO:0040038 polar body extrusion after meiotic divisions IEA --
genes like me logo Genes that share ontologies with WASHC5: view

No data available for SIGNOR curated interactions for WASHC5 Gene

Transcripts for WASHC5 Gene

Unigene Clusters for WASHC5 Gene

KIAA0196:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASHC5 Gene

No ASD Table

Relevant External Links for WASHC5 Gene

GeneLoc Exon Structure for
WASHC5
ECgene alternative splicing isoforms for
WASHC5

Expression for WASHC5 Gene

NURSA nuclear receptor signaling pathways regulating expression of WASHC5 Gene:

WASHC5

SOURCE GeneReport for Unigene cluster for WASHC5 Gene:

Hs.270043

mRNA Expression by UniProt/SwissProt for WASHC5 Gene:

Q12768-STRUM_HUMAN
Tissue specificity: Expressed ubiquitously.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for WASHC5 Gene

Orthologs for WASHC5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WASHC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0196 35 34
  • 99.71 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0196 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KIAA0196 35 34
  • 92.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0196 35 34
  • 91.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564420 34
  • 88.87 (n)
mouse
(Mus musculus)
Mammalia E430025E21Rik 16 35 34
  • 88.52 (n)
chicken
(Gallus gallus)
Aves KIAA0196 34 35
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0196 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0196 34
  • 76.68 (n)
Str.16493 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24528 34
zebrafish
(Danio rerio)
Actinopterygii strumpellin 35 34
  • 75.55 (n)
OneToOne
zgc55908 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007019 34
  • 53.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12272 34 35
  • 50.93 (n)
worm
(Caenorhabditis elegans)
Secernentea T05E7.3 34 35
  • 42.67 (n)
rice
(Oryza sativa)
Liliopsida Os04g0398800 34
  • 45.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2068 35
  • 61 (a)
OneToOne
Species where no ortholog for WASHC5 was found in the sources mined by GeneCards:
  • 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 WASHC5 Gene

ENSEMBL:
Gene Tree for WASHC5 (if available)
TreeFam:
Gene Tree for WASHC5 (if available)

Paralogs for WASHC5 Gene

No data available for Paralogs for WASHC5 Gene

Variants for WASHC5 Gene

Sequence variations from dbSNP and Humsavar for WASHC5 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs397515564 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563], Pathogenic 125,055,601(-) GGTTG(C/G)CATCA reference, missense
rs755285830 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] 125,078,772(+) GACCA(A/G)TGACC reference, missense
rs80338865 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563], Pathogenic 125,061,192(-) TAGAA(A/G)ACCTT reference, missense
rs80338866 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563], Pathogenic 125,057,574(-) GAGTT(C/G/T)GTATC reference, missense
rs80338867 Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563], Pathogenic 125,056,817(-) TGAAG(G/T)TTTTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WASHC5 Gene

Variant ID Type Subtype PubMed ID
nsv612148 CNV loss 21841781
nsv465803 CNV loss 19166990
esv3572977 CNV loss 25503493

Variation tolerance for WASHC5 Gene

Residual Variation Intolerance Score: 1.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WASHC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASHC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASHC5 Gene

Disorders for WASHC5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for WASHC5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 8, autosomal dominant
  • spg8
ritscher-schinzel syndrome
  • 3c syndrome
spastic paraplegia 8
  • spastic paraplegia 8, autosomal dominant
ritscher-schinzel syndrome 1
  • 3c syndrome
paraplegia
  • paraplegia, lower
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

STRUM_HUMAN
  • Ritscher-Schinzel syndrome 1 (RTSC1) [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.
  • 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.

Relevant External Links for WASHC5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC5
genes like me logo Genes that share disorders with WASHC5: view

No data available for Genatlas for WASHC5 Gene

Publications for WASHC5 Gene

  1. 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 64
  2. 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 64
  3. 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 64
  4. 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 64
  5. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. (PMID: 23881105) Bettencourt C. … Houlden H. (J. Neurol. 2013) 3 4 64

Products for WASHC5 Gene

Sources for WASHC5 Gene

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