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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] See more...

Aliases for WASHC4 Gene

Aliases for WASHC4 Gene

  • WASH Complex Subunit 4 2 3 4 5
  • Strumpellin And WASH-Interacting Protein 2 3 4
  • KIAA1033 2 3 4
  • WASH Complex Subunit SWIP 3 4
  • SWIP 3 4
  • 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 cognitive disability. 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 Summary 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).

Additional gene information for WASHC4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WASHC4 Gene

Genomics for WASHC4 Gene

GeneHancer (GH) Regulatory Elements for WASHC4 Gene

Promoters and enhancers for WASHC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J105106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 533 +1.8 1783 5.2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 USF1 POLR2G SP1 GTF2E2 WASHC4 ALDH1L2 LOC414300 APPL2 ENSG00000257642 lnc-WASHC4-1 piR-55985-034
GH12J105225 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 32.8 +124.1 124065 11.6 ZBTB40 ZNF217 CTCF ZSCAN5C NRF1 TCF12 POLR2G GTF2E2 PHF8 SIX5 APPL2 HE856139 WASHC4 C12orf75 ENSG00000286903
GH12J105082 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 31.5 -23.4 -23424 2.6 USF1 POLR2A ZBTB26 KLF4 MYC CTBP1 MXI1 CTCF KDM5B CREB3L1 ALDH1L2 HQ292168 WASHC4 C12orf75 RF00017-1239
GH12J104666 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 22.1 -436.8 -436826 7.5 ZNF217 CTCF ZSCAN5C NRF1 TCF12 SP1 NONO JUND PHB2 FOS CHST11 WASHC4 TDG RPL18AP3 EID3 HCFC2 TXNRD1 SLC41A2 piR-49557 piR-46381-022
GH12J105218 Enhancer 1 Ensembl ENCODE dbSUPER 34.4 +114.2 114232 6.5 ZNF10 RBM25 NFIC SPI1 BCOR SCRT1 NFIB ZNF768 PRDM10 PRDM4 WASHC4 APPL2 C12orf75 HE856139 piR-52521
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WASHC4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WASHC4

Genomic Locations for WASHC4 Gene

Genomic Locations for WASHC4 Gene
chr12:105,107,324-105,169,135
(GRCh38/hg38)
Size:
61,812 bases
Orientation:
Plus strand
chr12:105,501,102-105,562,912
(GRCh37/hg19)
Size:
61,811 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-WASC4_HUMAN
    Recommended name:
    WASH complex subunit 4
    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 (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for WASHC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WASHC4 Gene

Post-translational modifications for WASHC4 Gene

  • Ubiquitination at Lys1089
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WASHC4 Gene

Domains & Families for WASHC4 Gene

Gene Families for WASHC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for WASHC4 Gene

Suggested Antigen Peptide Sequences for WASHC4 Gene

GenScript: Design optimal peptide antigens:
  • KIAA1033 protein (B7ZKT9_HUMAN)
  • WASH complex subunit 7 (WAHS7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M389

UniProtKB/Swiss-Prot:

WASC4_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).

Phenotypes From GWAS Catalog for WASHC4 Gene

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

CRISPR Products

miRNA for WASHC4 Gene

miRTarBase miRNAs that target WASHC4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WASHC4

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
nucleus 5
endosome 5
plasma membrane 2
mitochondrion 2
cytosol 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WASHC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005768 endosome IDA,IEA 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

PathCards logo

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: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

Drugs & Compounds for WASHC4 Gene

No Compound Related Data Available

Transcripts for WASHC4 Gene

mRNA/cDNA for WASHC4 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WASHC4

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

No ASD Table

Relevant External Links for WASHC4 Gene

GeneLoc Exon Structure for
WASHC4

Expression for WASHC4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WASHC4

Evidence on tissue expression from TISSUES for WASHC4 Gene

  • Nervous system(4.6)
  • Heart(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WASHC4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
No Expression Related Data Available

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 31 30
  • 99.69 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1033 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1033 31 30
  • 95 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1033 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1033 31 30
  • 94.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia A230046K03Rik 31 30
  • 90.54 (n)
OneToOne
Washc4 17
rat
(Rattus norvegicus)
Mammalia RGD1309995 30
  • 89.34 (n)
chicken
(Gallus gallus)
Aves -- 31
  • 93 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
KIAA1033 30
  • 82.39 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA1033 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1033 30
  • 78.33 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-23p11.2 31
  • 85 (a)
OneToOne
LOC565752 30
  • 73.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13957 31 30
  • 43.49 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.21 30
  • 41.26 (n)
Y53F4B.21 31
  • 20 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os06g0136700 30
  • 43.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for WASHC4: view image

Paralogs for WASHC4 Gene

No data available for Paralogs for WASHC4 Gene

Variants for WASHC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WASHC4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
695111 Likely Pathogenic: Mental retardation, autosomal recessive 43 105,164,189(+) A/G MISSENSE_VARIANT
695112 Likely Pathogenic: Mental retardation, autosomal recessive 43 105,140,349(+) A/G MISSENSE_VARIANT
713251 Benign: not provided 105,142,460(+) A/T MISSENSE_VARIANT
713916 Likely Benign: not provided 105,164,103(+) G/T INTRON_VARIANT
714182 Benign: not provided 105,140,979(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for WASHC4 Gene

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)

Additional Variant Information for WASHC4 Gene

Human Gene Mutation Database (HGMD)
WASHC4
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

(10) MalaCards diseases for WASHC4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 43
  • mrt43
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
penis squamous cell carcinoma
  • epidermoid cell carcinoma of penis
penile cancer
  • ca penis
spastic paraplegia 8, autosomal dominant
  • spg8
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WASC4_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.

Additional Disease Information for 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 (Human molecular genetics 2011) 2 3 4 54
  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 DD (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 4 54
  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 IIα. (PMID: 23676666) Ryder PV … Faundez V (Molecular biology of the cell 2013) 3 4 54
  4. The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis. (PMID: 20376207) Pan YF … Maruyama IN (International journal of biological sciences 2010) 2 3 54
  5. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PMID: 19922875) Derivery E … Gautreau A (Developmental cell 2009) 3 4 54

Products for WASHC4 Gene

Sources for WASHC4 Gene