WASHC1 WASH complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WASHC1provided by HGNC
Official Full Name: WASH complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:24361
See related: Ensembl:ENSG00000181404 MIM:613632; AllianceGenome:HGNC:24361
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WASH; WASH1; FAM39E
Summary: Enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive regulation of pseudopodium assembly. Located in early endosome. Part of WASH complex. Colocalizes with exocyst. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in skin (RPKM 16.3), spleen (RPKM 13.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p24.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (14513..30487, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (8314..23877, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (14513..29739, complement)

Chromosome 9 - NC_000009.12 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?

WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress.
Title: WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress.
In this study, we uncover an alternative role for the ESCRT-0 component hepatocyte growth factor-regulated tyrosine kinase substrate (HRS) in promoting the constitutive recycling of transmembrane proteins. We find that endosomal localization of the actin nucleating factor Wiscott-Aldrich syndrome protein and SCAR homologue (WASH) requires HRS, which occupies adjacent endosomal subdomains
Title: HRS-WASH axis governs actin-mediated endosomal recycling and cell invasion.
WASH-mediated AHR expression has a critical function in the maintenance of NKp46+ innate lymphoid cells
Title: WASH maintains NKp46(+) ILC3 cells by promoting AHR expression.
Its mutation is not found in a cohort of German patients with sporadic amyotrophic lateral sclerosis and frontotemporal lobar degeneration comorbidity.
Title: Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.
WASH has a pivotal role for regulation of NK cell cytotoxicity through Lck-mediated Y141 tyrosine phosphorylation.
Title: WASH has a critical role in NK cell cytotoxicity through Lck-mediated phosphorylation.
ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters.
Title: Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50.
Stress-internalized EGFR co-segregates with exogenously expressed pre-melanosomal markers OA1 and fibrillar PMEL, following early endosomal sorting by the actin polymerization-promoting WASH complex
Title: WASH and Tsg101/ALIX-dependent diversion of stress-internalized EGFR from the canonical endocytic pathway.
FAM21 not only functions as an integral component of the cytoplasmic WASH complex, but also modulates NF-kappaB gene transcription in the nucleus.
Title: Nuclear FAM21 participates in NF-κB-dependent gene regulation in pancreatic cancer cells.
The WASH-VPEF/FAM21-retromer complexe mediates endosome fission and sorting of virus-containing vesicles prior to virus core uncoating in the cytoplasm.
Title: Intracellular Transport of Vaccinia Virus in HeLa Cells Requires WASH-VPEF/FAM21-Retromer Complexes and Recycling Molecules Rab11 and Rab22.
The USP7 deubiquitinating enzyme is an integral component of the MAGE-L2-TRIM27 ligase and is essential for WASH-mediated endosomal actin assembly and protein recycling.
Title: USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

G54113 (e-PCR)
- UniSTS:109350

stSG608804 (e-PCR)
- UniSTS:448346

stSG608805 (e-PCR)
- UniSTS:448347

stSG608806 (e-PCR)
- UniSTS:448348

ECD09355 (e-PCR)
- UniSTS:290399

ECD12236 (e-PCR)
- UniSTS:293269

RH26395 (e-PCR)
- UniSTS:90804

Clone Names

FLJ00038, FLJ75027, FLJ99609, MGC190539, MGC193256, DKFZp434K1323

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables alpha-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables gamma-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol 3-kinase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Arp2/3 complex-mediated actin nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in Arp2/3 complex-mediated actin nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in Arp2/3 complex-mediated actin nucleation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in endosomal transport	NAS Non-traceable Author Statement more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of pseudopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	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 protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed

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 autophagosome	ISS Inferred from Sequence or Structural Similarity more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	NAS Non-traceable Author Statement more info	PubMed
part_of exocyst	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IEA Inferred from Electronic Annotation more info
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WASH complex subunit 1

Names: CXYorf1-like protein on chromosome 9; FLJ00075 protein; WAS protein family homolog 1; actin nucleation promoting factor; family with sequence similarity 39, member E

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.

mRNA and Protein(s)

NM_001378090.1 → NP_001365019.1 WASH complex subunit 1

Status: VALIDATED

Source sequence(s)

AL928970

Consensus CDS

CCDS78375.1

UniProtKB/Swiss-Prot

A8K0Z3, C4AMC7, Q6VEQ5

Related

ENSP00000512441.1, ENST00000696149.1

Conserved Domains (1) summary

pfam11945
Location:14 → 297

WASH_WAHD; WAHD domain of WASH complex
NM_182905.6 → NP_878908.4 WASH complex subunit 1

See identical proteins and their annotated locations for NP_878908.4

Status: VALIDATED

Source sequence(s)

AL928970

Consensus CDS

CCDS78375.1

UniProtKB/Swiss-Prot

A8K0Z3, C4AMC7, Q6VEQ5

Related

ENSP00000485627.1, ENST00000442898.5

Conserved Domains (1) summary

pfam11945
Location:14 → 297

WASH_WAHD; WAHD domain of WASH complex

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

14513..30487 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517666.3 → XP_011515968.1 WASH complex subunit 1 isoform X8

UniProtKB/TrEMBL

A9QQ13

Conserved Domains (1) summary

pfam11945
Location:63 → 272

WASH_WAHD; WAHD domain of WASH complex
XM_011517660.3 → XP_011515962.1 WASH complex subunit 1 isoform X2

UniProtKB/TrEMBL

A9QQ13

Conserved Domains (1) summary

pfam11945
Location:58 → 305

WASH_WAHD; WAHD domain of WASH complex
XM_011517659.3 → XP_011515961.1 WASH complex subunit 1 isoform X1

UniProtKB/TrEMBL

A9QQ13

Conserved Domains (1) summary

pfam11945
Location:59 → 306

WASH_WAHD; WAHD domain of WASH complex
XM_047422581.1 → XP_047278537.1 WASH complex subunit 1 isoform X9
XM_017014171.2 → XP_016869660.1 WASH complex subunit 1 isoform X9

Conserved Domains (1) summary

pfam11945
Location:130 → 200

WASH_WAHD; WAHD domain of WASH complex
XM_011517662.4 → XP_011515964.1 WASH complex subunit 1 isoform X4

UniProtKB/TrEMBL

A9QQ13

Conserved Domains (1) summary

pfam11945
Location:49 → 296

WASH_WAHD; WAHD domain of WASH complex
XM_024447369.2 → XP_024303137.1 WASH complex subunit 1 isoform X3

UniProtKB/Swiss-Prot

A8K0Z3, C4AMC7, Q6VEQ5

Conserved Domains (1) summary

pfam11945
Location:14 → 297

WASH_WAHD; WAHD domain of WASH complex
XM_017014172.2 → XP_016869661.1 WASH complex subunit 1 isoform X9

Conserved Domains (1) summary

pfam11945
Location:130 → 200

WASH_WAHD; WAHD domain of WASH complex
XM_047422579.1 → XP_047278535.1 WASH complex subunit 1 isoform X3

UniProtKB/Swiss-Prot

A8K0Z3
XM_011517664.4 → XP_011515966.1 WASH complex subunit 1 isoform X6

UniProtKB/Swiss-Prot

A6NGF1, Q8N305, Q9NQA3

Conserved Domains (1) summary

pfam11945
Location:40 → 283

WASH_WAHD; WAHD domain of WASH complex
XM_017014169.2 → XP_016869658.1 WASH complex subunit 1 isoform X5

UniProtKB/Swiss-Prot

A6NGF1, Q8N305, Q9NQA3

Conserved Domains (1) summary

pfam11945
Location:40 → 284

WASH_WAHD; WAHD domain of WASH complex
XM_011517665.3 → XP_011515967.1 WASH complex subunit 1 isoform X7

UniProtKB/TrEMBL

A9QQ13

Conserved Domains (1) summary

pfam11945
Location:25 → 273

WASH_WAHD; WAHD domain of WASH complex
XM_047422587.1 → XP_047278543.1 WASH complex subunit 1 isoform X15
XM_047422584.1 → XP_047278540.1 WASH complex subunit 1 isoform X12
XM_047422583.1 → XP_047278539.1 WASH complex subunit 1 isoform X11
XM_047422582.1 → XP_047278538.1 WASH complex subunit 1 isoform X10
XM_047422586.1 → XP_047278542.1 WASH complex subunit 1 isoform X14
XM_047422585.1 → XP_047278541.1 WASH complex subunit 1 isoform X13
XM_047422588.1 → XP_047278544.1 WASH complex subunit 1 isoform X16