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Aliases for KIAA1033 Gene

Aliases for KIAA1033 Gene

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

External Ids for KIAA1033 Gene

Summaries for KIAA1033 Gene

Entrez Gene Summary for KIAA1033 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 KIAA1033 Gene

KIAA1033 (KIAA1033) is a Protein Coding gene. Diseases associated with KIAA1033 include mental retardation, autosomal recessive 43 and phimosis.

UniProtKB/Swiss-Prot for KIAA1033 Gene

  • Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes sems 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 KIAA1033 Gene

Genomics for KIAA1033 Gene

Genomic Location for KIAA1033 Gene

Start:
105,107,324 bp from pter
End:
105,169,134 bp from pter
Size:
61,811 bases
Orientation:
Plus strand

Genomic View for KIAA1033 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA1033 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1033 Gene

Regulatory Elements for KIAA1033 Gene

Proteins for KIAA1033 Gene

  • Protein details for KIAA1033 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M389-WASH7_HUMAN
    Recommended name:
    WASH complex subunit 7
    Protein Accession:
    Q2M389
    Secondary Accessions:
    • Q2NL83
    • Q8IW61
    • Q8N5W7
    • Q9NVD6
    • Q9UPW7

    Protein attributes for KIAA1033 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 KIAA1033 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1033 Gene

Proteomics data for KIAA1033 Gene at MOPED

Post-translational modifications for KIAA1033 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1089

Other Protein References for KIAA1033 Gene

No data available for DME Specific Peptides for KIAA1033 Gene

Domains for KIAA1033 Gene

Protein Domains for KIAA1033 Gene

UniProtKB/Swiss-Prot:

WASH7_HUMAN
Family:
  • Belongs to the WASHS7 family.:
    • Q2M389
genes like me logo Genes that share domains with KIAA1033: view

No data available for Gene Families for KIAA1033 Gene

Function for KIAA1033 Gene

Molecular function for KIAA1033 Gene

UniProtKB/Swiss-Prot Function: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes sems 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).

miRNA for KIAA1033 Gene

miRTarBase miRNAs that target KIAA1033

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA1033 Gene

Localization for KIAA1033 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1033 Gene

Early endosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1033 Gene COMPARTMENTS Subcellular localization image for KIAA1033 gene
Compartment Confidence
endosome 5
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KIAA1033 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005768 endosome IDA 20923837
GO:0005769 early endosome IEA --
GO:0031083 colocalizes_with BLOC-1 complex IDA 23676666
GO:0071203 WASH complex IDA 19922875
genes like me logo Genes that share ontologies with KIAA1033: view

Pathways for KIAA1033 Gene

SuperPathways for KIAA1033 Gene

No Data Available

Interacting Proteins for KIAA1033 Gene

Gene Ontology (GO) - Biological Process for KIAA1033 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007032 endosome organization IMP 23676666
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport ISS --
genes like me logo Genes that share ontologies with KIAA1033: view

No data available for Pathways by source for KIAA1033 Gene

Transcripts for KIAA1033 Gene

Unigene Clusters for KIAA1033 Gene

KIAA1033:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1033 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
SP1:
SP2:

Relevant External Links for KIAA1033 Gene

GeneLoc Exon Structure for
KIAA1033
ECgene alternative splicing isoforms for
KIAA1033

Expression for KIAA1033 Gene

mRNA expression in normal human tissues for KIAA1033 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA1033 Gene

SOURCE GeneReport for Unigene cluster for KIAA1033 Gene Hs.12144

genes like me logo Genes that share expressions with KIAA1033: view

Orthologs for KIAA1033 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KIAA1033 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1033 36
  • 99.69 (n)
  • 99.83 (a)
KIAA1033 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1033 36
  • 95 (n)
  • 98.89 (a)
KIAA1033 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1033 36
  • 94.62 (n)
  • 97.95 (a)
KIAA1033 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia A230046K03Rik 36
  • 90.54 (n)
  • 96.76 (a)
A230046K03Rik 16
A230046K03Rik 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1033 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1033 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1309995 36
  • 89.34 (n)
  • 95.57 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 93 (a)
OneToMany
-- 37
  • 92 (a)
OneToMany
LOC101750080 36
  • 82.39 (n)
  • 91.98 (a)
lizard
(Anolis carolinensis)
Reptilia KIAA1033 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1033 36
  • 78.33 (n)
  • 88.51 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC565752 36
  • 73.97 (n)
  • 85.98 (a)
si:dkey-23p11.2 37
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13957 36
  • 43.49 (n)
  • 30.94 (a)
CG13957 37
  • 29 (a)
OneToOne
CG13957 38
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.21 36
  • 41.26 (n)
  • 24.8 (a)
Y53F4B.21 37
  • 20 (a)
OneToOne
Y53F4B.21 38
  • 20 (a)
rice
(Oryza sativa)
Liliopsida Os06g0136700 36
  • 43.78 (n)
  • 25.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 54 (a)
OneToOne
Species with no ortholog for KIAA1033:
  • 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 KIAA1033 Gene

ENSEMBL:
Gene Tree for KIAA1033 (if available)
TreeFam:
Gene Tree for KIAA1033 (if available)

Paralogs for KIAA1033 Gene

No data available for Paralogs for KIAA1033 Gene

Variants for KIAA1033 Gene

Sequence variations from dbSNP and Humsavar for KIAA1033 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1076 -- 105,169,010(-) TCATT(A/G)GAACT utr-variant-3-prime
rs755604 -- 105,129,842(+) ACATC(A/G)TGAAG intron-variant
rs935243 -- 105,130,106(+) aacaa(C/G)tagta intron-variant
rs1014502 -- 105,140,795(+) TGTGT(A/G)TGCTC intron-variant
rs1044607 -- 105,168,934(+) TGAGC(A/G)TTTGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KIAA1033 Gene

Variant ID Type Subtype PubMed ID
nsv899495 CNV Gain 21882294
nsv832506 CNV Gain 17160897

Relevant External Links for KIAA1033 Gene

HapMap Linkage Disequilibrium report
KIAA1033
Human Gene Mutation Database (HGMD)
KIAA1033

Disorders for KIAA1033 Gene

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.

(2) University of Copenhagen DISEASES for KIAA1033 Gene

Relevant External Links for KIAA1033

Genetic Association Database (GAD)
KIAA1033
genes like me logo Genes that share disorders with KIAA1033: view

Publications for KIAA1033 Gene

  1. 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
  2. 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
  3. 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
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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

Products for KIAA1033 Gene

Sources for KIAA1033 Gene

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