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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SPG8 mutations in Italian families: clinical data and literature review.
Title: SPG8 mutations in Italian families: clinical data and literature review.
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].
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.
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.
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.
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.
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.
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.
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	Compare labs
Ritscher-Schinzel syndrome 1 MedGen: C4551776 OMIM: 220210 GeneReviews: Ritscher-Schinzel Syndrome	Compare labs

EBI GWAS Catalog

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

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

D8S1932 (e-PCR)
- UniSTS:79373

RH25409 (e-PCR)
- UniSTS:51759

D8S1483 (e-PCR)
- UniSTS:20534

D8S1804 (e-PCR), detects polymorphism
- UniSTS:5944

RH47109 (e-PCR)
- UniSTS:44897

G62920 (e-PCR)
- UniSTS:139895

SHGC-106032 (e-PCR)
- UniSTS:169602

AFMA122XE9 (e-PCR)
- UniSTS:38801

D8S1774 (e-PCR)
- UniSTS:71601

G20790 (e-PCR)
- UniSTS:36327

A006G23 (e-PCR)
- UniSTS:36328

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

NG_012636.1 RefSeqGene

Range

5028..72560

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

125024260..125091792 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K4R7, Q12768, Q3KQX5, Q8TBQ2
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
XM_047422503.1 → XP_047278459.1 WASH complex subunit 5 isoform X2