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Aliases for WASHC4 Gene

Aliases for WASHC4 Gene

  • WASH Complex Subunit 4 2 3
  • KIAA1033 2 3 4 5
  • Strumpellin And WASH-Interacting Protein 2 3 4
  • SWIP 3 4
  • WASH Complex Subunit SWIP 3
  • WASH Complex Subunit 7 3
  • MRT43 3

External Ids for WASHC4 Gene

Previous HGNC Symbols for WASHC4 Gene

  • KIAA1033

Summaries for WASHC4 Gene

Entrez Gene Summary for WASHC4 Gene

  • This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for WASHC4 Gene

WASHC4 (WASH Complex Subunit 4) is a Protein Coding gene. Diseases associated with WASHC4 include Mental Retardation, Autosomal Recessive 43 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Endocytosis.

UniProtKB/Swiss-Prot for WASHC4 Gene

  • Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASHC4 Gene

Genomics for WASHC4 Gene

Regulatory Elements for WASHC4 Gene

Enhancers for WASHC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F105225 1.6 FANTOM5 Ensembl ENCODE 32.8 +124.0 124004 11.5 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ETS1 YY1 GLIS2 ELK1 WASHC4 APPL2 C12orf75 PIR46520
GH12F105091 1.2 FANTOM5 Ensembl ENCODE 32.3 -15.0 -15028 1.8 PKNOX1 TAL1 RAD21 NR2F2 POLR2A GATA2 SCRT2 ZNF280C WASHC4 APPL2 C12orf75 ALDH1L2
GH12F105082 1.2 FANTOM5 ENCODE 31.5 -23.3 -23326 2.1 CTCF TFAP4 CREB3L1 MAX ZNF384 CEBPG ZNF48 ZNF2 E2F1 CCNT2 WASHC4 C12orf75 ALDH1L2 PIR40149
GH12F104666 1.7 FANTOM5 Ensembl ENCODE 22.1 -436.6 -436645 7.8 HDGF PKNOX1 WRNIP1 SIN3A FEZF1 YY1 FOS ZNF263 JUNB REST CHST11 WASHC4 RPL18AP3 TXNRD1 EID3 SLC41A2 PIR42556 GC12M104604
GH12F105106 1.1 ENCODE 33.1 +1.8 1783 5.2 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 WASHC4 APPL2 KCCAT198 LOC414300 GC12P105154
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASHC4 on UCSC Golden Path with GeneCards custom track

Promoters for WASHC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000436237 1576 4201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for WASHC4 Gene

Chromosome:
12
Start:
105,107,324 bp from pter
End:
105,169,135 bp from pter
Size:
61,812 bases
Orientation:
Plus strand

Genomic View for WASHC4 Gene

Genes around WASHC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASHC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASHC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASHC4 Gene

Proteins for WASHC4 Gene

  • Protein details for WASHC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M389-WASH7_HUMAN
    Recommended name:
    WASH complex subunit SWIP
    Protein Accession:
    Q2M389
    Secondary Accessions:
    • Q2NL83
    • Q8IW61
    • Q8N5W7
    • Q9NVD6
    • Q9UPW7

    Protein attributes for WASHC4 Gene

    Size:
    1173 amino acids
    Molecular mass:
    136403 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASH1, WASH2P or WASH3P), FAM21 (FAM21A or FAM21C), KIAA1033/SWIP, KIAA0196/strumpellin and CCDC53. The WASH core complex associates via FAM21 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex.
    SequenceCaution:
    • Sequence=AAI10851.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA82985.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for WASHC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WASHC4 Gene

Post-translational modifications for WASHC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WASHC4 Gene

Domains & Families for WASHC4 Gene

Gene Families for WASHC4 Gene

Protein Domains for WASHC4 Gene

Suggested Antigen Peptide Sequences for WASHC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2M389

UniProtKB/Swiss-Prot:

WASH7_HUMAN :
  • Belongs to the SWIP family.
Family:
  • Belongs to the SWIP family.
genes like me logo Genes that share domains with WASHC4: view

Function for WASHC4 Gene

Molecular function for WASHC4 Gene

UniProtKB/Swiss-Prot Function:
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).
genes like me logo Genes that share phenotypes with WASHC4: view

Human Phenotype Ontology for WASHC4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for WASHC4 Gene

Localization for WASHC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASHC4 Gene

Early endosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WASHC4 gene
Compartment Confidence
endosome 5
nucleus 3
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for WASHC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005768 endosome IEA,IDA 20923837
GO:0005769 early endosome IEA --
GO:0031083 colocalizes_with BLOC-1 complex IDA 23676666
GO:0071203 WASH complex IEA,IDA 19922875
genes like me logo Genes that share ontologies with WASHC4: view

Pathways & Interactions for WASHC4 Gene

SuperPathways for WASHC4 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASHC4: view

Pathways by source for WASHC4 Gene

1 KEGG pathway for WASHC4 Gene

Gene Ontology (GO) - Biological Process for WASHC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007032 endosome organization IMP 23676666
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport IEA,ISS --
genes like me logo Genes that share ontologies with WASHC4: view

No data available for SIGNOR curated interactions for WASHC4 Gene

Transcripts for WASHC4 Gene

Unigene Clusters for WASHC4 Gene

KIAA1033:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASHC4 Gene

No ASD Table

Relevant External Links for WASHC4 Gene

GeneLoc Exon Structure for
WASHC4
ECgene alternative splicing isoforms for
WASHC4

Expression for WASHC4 Gene

NURSA nuclear receptor signaling pathways regulating expression of WASHC4 Gene:

WASHC4

SOURCE GeneReport for Unigene cluster for WASHC4 Gene:

Hs.12144
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for WASHC4 Gene

Orthologs for WASHC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WASHC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1033 34 35
  • 99.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1033 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1033 34 35
  • 95 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA1033 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1033 34 35
  • 94.62 (n)
mouse
(Mus musculus)
Mammalia A230046K03Rik 34 16 35
  • 90.54 (n)
rat
(Rattus norvegicus)
Mammalia RGD1309995 34
  • 89.34 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 93 (a)
OneToMany
-- 35
  • 92 (a)
OneToMany
LOC101750080 34
  • 82.39 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1033 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1033 34
  • 78.33 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-23p11.2 35
  • 85 (a)
OneToOne
LOC565752 34
  • 73.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13957 34 35
  • 43.49 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.21 34
  • 41.26 (n)
Y53F4B.21 35
  • 20 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os06g0136700 34
  • 43.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
Species where no ortholog for WASHC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WASHC4 Gene

ENSEMBL:
Gene Tree for WASHC4 (if available)
TreeFam:
Gene Tree for WASHC4 (if available)

Paralogs for WASHC4 Gene

No data available for Paralogs for WASHC4 Gene

Variants for WASHC4 Gene

Sequence variations from dbSNP and Humsavar for WASHC4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs587777411 Mental retardation, autosomal recessive 43 (MRT43) [MIM:615817], Pathogenic 105,160,144(+) TCCCC(C/G)TCTGG nc-transcript-variant, reference, missense
rs199927759 Uncertain significance 105,126,319(+) AACTA(C/T)TGATA nc-transcript-variant, reference, missense
rs35267264 Uncertain significance 105,126,095(+) TATTC(A/G)GTCAA nc-transcript-variant, reference, missense
rs878853065 Uncertain significance 105,144,330(+) TCTGC(A/G)ACTTT nc-transcript-variant, reference, missense
rs10083051 -- 105,120,930(+) TAAGA(C/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WASHC4 Gene

Variant ID Type Subtype PubMed ID
nsv1049296 CNV loss 25217958
nsv832506 CNV gain 17160897

Variation tolerance for WASHC4 Gene

Residual Variation Intolerance Score: 32.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WASHC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASHC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASHC4 Gene

Disorders for WASHC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for WASHC4 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 43
  • mrt43
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WASH7_HUMAN
  • Mental retardation, autosomal recessive 43 (MRT43) [MIM:615817]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21498477}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WASHC4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC4
genes like me logo Genes that share disorders with WASHC4: view

No data available for Genatlas for WASHC4 Gene

Publications for WASHC4 Gene

  1. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. (PMID: 21498477) Ropers F. … Rajab A. (Hum. Mol. Genet. 2011) 2 3 4 64
  2. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. (PMID: 20498093) Jia D. … Billadeau D.D. (Proc. Natl. Acad. Sci. U.S.A. 2010) 2 3 4 64
  3. The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type III+. (PMID: 23676666) Ryder P.V. … Faundez V. (Mol. Biol. Cell 2013) 3 4 64
  4. The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis. (PMID: 20376207) Pan Y.F. … Maruyama I.N. (Int. J. Biol. Sci. 2010) 2 3 64
  5. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PMID: 19922875) Derivery E. … Gautreau A. (Dev. Cell 2009) 3 4 64

Products for WASHC4 Gene

Sources for WASHC4 Gene

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