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

Gene ID: 9897, updated on 25-Nov-2021

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
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

See WASHC5 in Genome Data Viewer
Location:
8q24.13
Exon count:
31
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (125024260..125091796, complement)
105.20201022 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 SQLE divergent transcript Neighboring gene squalene epoxidase Neighboring gene WASHC5 antisense RNA 1 Neighboring gene NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase Neighboring gene HNF1 motif-containing MPRA enhancer 31 Neighboring gene RNA, 7SL, cytoplasmic 329, pseudogene

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

Associated conditions

Description Tests
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Hereditary spastic paraplegia 8
MedGen: C1863704 OMIM: 603563 GeneReviews: Spastic Paraplegia 8
Compare labs
Ritscher-Schinzel syndrome 1
MedGen: C4551776 OMIM: 220210 GeneReviews: Ritscher-Schinzel Syndrome
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in endosome fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
part_of WASH complex IDA
Inferred from Direct Assay
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 endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_001330609.2NP_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
    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
    Q12768
    Related
    ENSP00000318016.7, ENST00000318410.12
    Conserved Domains (1) summary
    pfam10266
    Location:231103
    Strumpellin; Hereditary spastic paraplegia protein strumpellin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    125024260..125091796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014113.2XP_016869602.1  WASH complex subunit 5 isoform X1

    UniProtKB/Swiss-Prot
    Q12768
    Conserved Domains (1) summary
    pfam10266
    Location:231103
    Strumpellin; Hereditary spastic paraplegia protein strumpellin
  2. XM_011517409.1XP_011515711.1  WASH complex subunit 5 isoform X2

    Conserved Domains (1) summary
    pfam10266
    Location:231063
    Strumpellin; Hereditary spastic paraplegia protein strumpellin
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