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    WASHC5 WASH complex subunit 5 [ Homo sapiens (human) ]

    Gene ID: 9897, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WASHC5provided by HGNC
    Official Full Name
    WASH complex subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:28984
    See related
    Ensembl:ENSG00000164961 MIM:610657; AllianceGenome:HGNC:28984
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RTSC; SPG8; RTSC1; KIAA0196
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.8), urinary bladder (RPKM 9.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WASHC5 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (125024260..125091792, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (126158081..126225631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126036502..126104034, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27898 Neighboring gene SQLE divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 Neighboring gene squalene epoxidase Neighboring gene WASHC5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27899 Neighboring gene NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27903 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:126201101-126202300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27907 Neighboring gene HNF1 motif-containing MPRA enhancer 31 Neighboring gene Sharpr-MPRA regulatory region 6874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27908 Neighboring gene RNA, 7SL, cytoplasmic 329, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:126312861-126313361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27910 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126346157-126346974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:126389339-126389905 Neighboring gene Sharpr-MPRA regulatory region 8491 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126398994-126399684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126400790-126401290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126401291-126401791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126416953-126417640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126417641-126418327 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126427297-126428194 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:126428195-126429092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27913 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126433597-126434098 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:126434099-126434598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27915 Neighboring gene tribbles pseudokinase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. de Bot ST, et al. J Neurol, 2013 Jul. PMID 23455931
    2. SPG8 mutations in Italian families: clinical data and literature review. Ginanneschi F, et al. Neurol Sci, 2020 Mar. PMID 31814071
    3. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Hedera P, et al. Am J Hum Genet, 1999 Feb. PMID 9973294, Free PMC Article
    4. [Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia]. Li G, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Jun 10. PMID 31055811
    5. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Bettencourt C, et al. J Neurol, 2013 Sep. PMID 23881105, Free PMC Article

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
      Title: Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
    2. SPG8 mutations in Italian families: clinical data and literature review.
      Title: SPG8 mutations in Italian families: clinical data and literature review.
    3. clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia
      Title: [Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia].
    4. A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8.
      Title: Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.
    5. A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans.
      Title: CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
    6. Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
      Title: A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
    7. To identify the underlying genetic cause of Ritscher-Schinzel syndrome, affected individuals from a First Nations community in Manitoba underwent mutational analysis. All eight patients were homozygous for a novel splice site mutation in KIAA0196.
      Title: A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
    8. we identified a novel KIAA0196 missense variant in the proband and her daughter expanding the clinical spectrum of hereditary spastic paraplegia 8.
      Title: Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
    9. We have identified a fourth pathogenic KIAA0196 mutation in a Dutch hereditary spastic paraplegia family, the seventh family worldwide, with a less severe clinical course than described before.
      Title: Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
    10. Strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation.
      Title: The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 8
    MedGen: C1863704 OMIM: 603563 GeneReviews: Spastic Paraplegia 8
    		not available
    Ritscher-Schinzel syndrome 1
    MedGen: C4551776 OMIM: 220210 GeneReviews: Ritscher-Schinzel Syndrome
    		not available

    EBI GWAS Catalog

    Description
    C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosomal transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in endosome fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic spindle assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in polar body extrusion after meiotic divisions IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Arp2/3 complex-mediated actin nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of vesicle size IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of WASH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of WASH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of WASH complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    WASH complex subunit 5
    Names
    WASH complex subunit strumpellin
    strumpellin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012636.1 RefSeqGene

      Range
      5028..72560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330609.2 → NP_001317538.1  WASH complex subunit 5 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA810712, AC009908, AL134860, CN307656, CX165397, CX781999, DA189452
      Consensus CDS
      CCDS83325.1
      UniProtKB/TrEMBL
      B4DLF2, E7EQI7
      Related
      ENSP00000429676.1, ENST00000517845.5
      Conserved Domains (1) summary
      pfam10266
      Location:1 → 955
      Strumpellin; Hereditary spastic paraplegia protein strumpellin

    2. NM_014846.4 → NP_055661.3  WASH complex subunit 5 isoform 1

      See identical proteins and their annotated locations for NP_055661.3

      Status: REVIEWED

      Source sequence(s)
      AI266595, BC106015, D83780, DA185885
      Consensus CDS
      CCDS6355.1
      UniProtKB/Swiss-Prot
      A8K4R7, Q12768, Q3KQX5, Q8TBQ2
      UniProtKB/TrEMBL
      A6NKW8, Q53EL1
      Related
      ENSP00000318016.7, ENST00000318410.12
      Conserved Domains (1) summary
      pfam10266
      Location:23 → 1103
      Strumpellin; Hereditary spastic paraplegia protein strumpellin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      125024260..125091792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422502.1 → XP_047278458.1  WASH complex subunit 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K4R7, Q12768, Q3KQX5, Q8TBQ2
      UniProtKB/TrEMBL
      A6NKW8, Q53EL1

    2. XM_011517409.2 → XP_011515711.1  WASH complex subunit 5 isoform X2

      UniProtKB/TrEMBL
      A6NKW8, Q53EL1
      Conserved Domains (1) summary
      pfam10266
      Location:23 → 1063
      Strumpellin; Hereditary spastic paraplegia protein strumpellin

    3. XM_047422503.1 → XP_047278459.1  WASH complex subunit 5 isoform X2

      UniProtKB/TrEMBL
      A6NKW8, Q53EL1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      126158081..126225631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361637.1 → XP_054217612.1  WASH complex subunit 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K4R7, Q12768, Q3KQX5, Q8TBQ2
      UniProtKB/TrEMBL
      A6NKW8, Q53EL1

    2. XM_054361638.1 → XP_054217613.1  WASH complex subunit 5 isoform X2

      UniProtKB/TrEMBL
      A6NKW8, Q53EL1

    3. XM_054361639.1 → XP_054217614.1  WASH complex subunit 5 isoform X2

      UniProtKB/TrEMBL
      A6NKW8, Q53EL1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12768.1 GenPept UniProtKB/Swiss-Prot:Q12768

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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