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

Gene ID: 9897, updated on 3-Jun-2018
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; Vega:OTTHUMG00000164991
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
See WASHC5 in Genome Data Viewer
Location:
8q24.13
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (125024260..125091819, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (126036502..126104061, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375744 Neighboring gene squalene epoxidase 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dandy-Walker like malformation with atrioventricular septal defect
MedGen: C0796137 OMIM: 220210 GeneReviews: Not available
Compare labs
Spastic paraplegia 8
MedGen: C1863704 OMIM: 603563 GeneReviews: Spastic Paraplegia 8
Compare labs

NHGRI GWAS Catalog

Description
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC111053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endosomal transport IEA
Inferred from Electronic Annotation
more info
 
oocyte maturation IEA
Inferred from Electronic Annotation
more info
 
polar body extrusion after meiotic divisions IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
spindle assembly involved in meiosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
WASH complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
WASH complex subunit 5
Names
WASH complex subunit strumpellin
strumpellin

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
    5001..72560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330609.1NP_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_014846.3NP_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, OTTHUMP00000228149, ENST00000318410.11, OTTHUMT00000381369
    Conserved Domains (1) summary
    pfam10266
    Location:231103
    Strumpellin; Hereditary spastic paraplegia protein strumpellin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    125024260..125091819 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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