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

Gene ID: 9897, updated on 7-Apr-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
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Genomic context

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Location:
8q24.13
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (125024260..125091792, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (126158081..126225631, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SPG8 mutations in Italian families: clinical data and literature review. Ginanneschi F, et al. Neurol Sci, 2020 Mar. PMID 31814071
  2. [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
  3. Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. Ichinose Y, et al. Clin Neurol Neurosurg, 2016 May. PMID 26967522
  4. A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. Wang X, et al. Chin Med J (Engl), 2014. PMID 24824269
  5. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. Elliott AM, et al. J Med Genet, 2013 Dec. PMID 24065355

See all (74) 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

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)

Genotypes

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
  
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 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_2023_10

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

  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

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

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

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

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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