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

    Gene ID: 9897, updated on 7-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WASHC5 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001330609.2NP_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:1955
      Strumpellin; Hereditary spastic paraplegia protein strumpellin
    2. NM_014846.4NP_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:231103
      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_047422502.1XP_047278458.1  WASH complex subunit 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K4R7, Q12768, Q3KQX5, Q8TBQ2
    2. XM_011517409.2XP_011515711.1  WASH complex subunit 5 isoform X2

      UniProtKB/TrEMBL
      A6NKW8, Q53EL1
      Conserved Domains (1) summary
      pfam10266
      Location:231063
      Strumpellin; Hereditary spastic paraplegia protein strumpellin
    3. XM_047422503.1XP_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_054361637.1XP_054217612.1  WASH complex subunit 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K4R7, Q12768, Q3KQX5, Q8TBQ2
    2. XM_054361638.1XP_054217613.1  WASH complex subunit 5 isoform X2

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