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Aliases for WAC Gene

Aliases for WAC Gene

  • WW Domain Containing Adaptor With Coiled-Coil 2 3 5
  • WW Domain-Containing Adapter Protein With Coiled-Coil 3
  • WW Domain-Containing Adaptor With Coiled Coil 2
  • KIAA1844 4
  • PRO1741 3
  • BM-016 3
  • DESSH 3
  • WWP4 3

External Ids for WAC Gene

Previous GeneCards Identifiers for WAC Gene

  • GC10P028971
  • GC10P028825
  • GC10P028861

Summaries for WAC Gene

Entrez Gene Summary for WAC Gene

  • The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

GeneCards Summary for WAC Gene

WAC (WW Domain Containing Adaptor With Coiled-Coil) is a Protein Coding gene. Among its related pathways are Metabolism of proteins. GO annotations related to this gene include chromatin binding and RNA polymerase II core binding.

UniProtKB/Swiss-Prot for WAC Gene

  • Acts as a linker between gene transcription and histone H2B monoubiquitination at Lys-120 (H2BK120ub1). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription. Regulates the cell-cycle checkpoint activation in response to DNA damage. Positive regulator of amino acid starvation-induced autophagy. May negatively regulate the ubiquitin proteasome pathway.

Gene Wiki entry for WAC Gene

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

Genomics for WAC Gene

Regulatory Elements for WAC Gene

Enhancers for WAC 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
GH10F028502 1.4 Ensembl ENCODE 12 -30.0 -29993 1.0 HDAC1 ATF1 RNF2 L3MBTL2 ARID1B SMARCA4 POLR2A MYC SUPT5H MGA WAC-AS1 WAC GC10P028507 LOC105376468
GH10F028503 0.2 ENCODE 12 -29.2 -29187 0.2 SCRT1 CTCF ZBTB8A FEZF1 BCL11B RAD21 ZIC2 ZNF843 OSR2 MYNN WAC-AS1 WAC GC10P028507 LOC105376468
GH10F028499 0.2 ENCODE 12 -32.3 -32321 1.4 BCOR GATA3 CTBP1 CUX1 DPF2 WAC-AS1 WAC LOC105376468 GC10P028507
GH10F028558 0.9 Ensembl ENCODE 11.8 +27.1 27088 2.0 IKZF1 ETV6 ZNF843 WT1 SP7 ZXDB WAC-AS1 WAC PIR60646
GH10F028432 1.2 Ensembl ENCODE 11.4 -100.1 -100093 0.8 ELF3 CTCF DEAF1 RAD21 YY1 GATA3 GATA2 ZNF143 SMC3 ZNF652 WAC WAC-AS1 RPSAP10 ENSG00000222666
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WAC on UCSC Golden Path with GeneCards custom track

Promoters for WAC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000352446 607 4200 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for WAC Gene

Chromosome:
10
Start:
28,532,493 bp from pter
End:
28,623,112 bp from pter
Size:
90,620 bases
Orientation:
Plus strand

Genomic View for WAC Gene

Genes around WAC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for WAC Gene

Proteins for WAC Gene

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

    Protein Symbol:
    Q9BTA9-WAC_HUMAN
    Recommended name:
    WW domain-containing adapter protein with coiled-coil
    Protein Accession:
    Q9BTA9
    Secondary Accessions:
    • A8K2A9
    • C9JBT9
    • D3DRW5
    • D3DRW6
    • D3DRW7
    • Q53EN9
    • Q5JU75
    • Q5JU77
    • Q5VXK0
    • Q5VXK2
    • Q8TCK1
    • Q96DP3
    • Q96FW6
    • Q96JI3

    Protein attributes for WAC Gene

    Size:
    647 amino acids
    Molecular mass:
    70724 Da
    Quaternary structure:
    • Interacts (via coiled coil domain) with RNF20, RNF40 and UBE2A. Interacts (via WW domain) with RNA polymerase II.
    SequenceCaution:
    • Sequence=AAH04258.2; Type=Frameshift; Positions=641; Evidence={ECO:0000305}; Sequence=AAH10356.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB47473.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAH70767.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40921.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40923.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for WAC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WAC Gene

Post-translational modifications for WAC Gene

No data available for DME Specific Peptides for WAC Gene

Domains & Families for WAC Gene

Protein Domains for WAC Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BTA9

UniProtKB/Swiss-Prot:

WAC_HUMAN :
  • Contains 1 WW domain.
Domain:
  • Contains 1 WW domain.
genes like me logo Genes that share domains with WAC: view

No data available for Gene Families for WAC Gene

Function for WAC Gene

Molecular function for WAC Gene

UniProtKB/Swiss-Prot Function:
Acts as a linker between gene transcription and histone H2B monoubiquitination at Lys-120 (H2BK120ub1). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription. Regulates the cell-cycle checkpoint activation in response to DNA damage. Positive regulator of amino acid starvation-induced autophagy. May negatively regulate the ubiquitin proteasome pathway.

Gene Ontology (GO) - Molecular Function for WAC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II core binding IDA 21329877
GO:0003682 chromatin binding IDA 21329877
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with WAC: view
genes like me logo Genes that share phenotypes with WAC: view

Animal Model Products

miRNA for WAC Gene

miRTarBase miRNAs that target WAC

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WAC Gene

Localization for WAC Gene

Subcellular locations from UniProtKB/Swiss-Prot for WAC Gene

Nucleus speckle. Nucleus. Note=In distinct nuclear speckles. Colocalizes with pre-mRNA processing complexes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WAC Gene COMPARTMENTS Subcellular localization image for WAC gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for WAC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 22354037
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex IEA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with WAC: view

Pathways & Interactions for WAC Gene

genes like me logo Genes that share pathways with WAC: view

Pathways by source for WAC Gene

Gene Ontology (GO) - Biological Process for WAC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IMP 21329877
GO:0010390 histone monoubiquitination IMP 21329877
GO:0016239 positive regulation of macroautophagy IMP 22354037
genes like me logo Genes that share ontologies with WAC: view

No data available for SIGNOR curated interactions for WAC Gene

Transcripts for WAC Gene

Unigene Clusters for WAC Gene

WW domain containing adaptor with coiled-coil:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ·
SP1: - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - -
SP7: - - -
SP8: - - - - - - - - - - - - - - - -
SP9:
SP10:
SP11: - - - -
SP12: - -
SP13: - - -
SP14:
SP15:
SP16:
SP17:

ExUns: 16c ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5: -
SP6: - - -
SP7: -
SP8:
SP9: - -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for WAC Gene

GeneLoc Exon Structure for
WAC
ECgene alternative splicing isoforms for
WAC

Expression for WAC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WAC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WAC Gene

This gene is overexpressed in Heart (31.6), CD8 Tcells (8.5), and Liver, secretome (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WAC Gene



Protein tissue co-expression partners for WAC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WAC Gene:

WAC

SOURCE GeneReport for Unigene cluster for WAC Gene:

Hs.743224
genes like me logo Genes that share expression patterns with WAC: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for WAC Gene

Orthologs for WAC Gene

This gene was present in the common ancestor of animals.

Orthologs for WAC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WAC 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 96 (a)
OneToMany
-- 35
  • 96 (a)
OneToMany
WAC 34
  • 95.63 (n)
-- 35
  • 91 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia WAC 34 35
  • 94.96 (n)
oppossum
(Monodelphis domestica)
Mammalia WAC 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WAC 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wac 34 16 35
  • 92.83 (n)
rat
(Rattus norvegicus)
Mammalia RGD1562407 34
  • 92.62 (n)
chicken
(Gallus gallus)
Aves WAC 34 35
  • 87.78 (n)
lizard
(Anolis carolinensis)
Reptilia WAC 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wac 34
  • 80.78 (n)
Str.2721 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.17846 34
zebrafish
(Danio rerio)
Actinopterygii waca 34 35
  • 66.67 (n)
wacb 35
  • 61 (a)
OneToMany
WAC (3 of 3) 35
  • 55 (a)
OneToMany
wufc13f04 34
fruit fly
(Drosophila melanogaster)
Insecta CG8949 35
  • 18 (a)
OneToOne
Species where no ortholog for WAC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for WAC Gene

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

Paralogs for WAC Gene

No data available for Paralogs for WAC Gene

Variants for WAC Gene

Sequence variations from dbSNP and Humsavar for WAC Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_036351 A colorectal cancer sample
rs864321634 Pathogenic 28,617,762(+) AAATT(C/T)AAGCA nc-transcript-variant, reference, stop-gained
rs864321689 Pathogenic 28,535,746(+) TAGAG(-/AGAG)GGATG nc-transcript-variant, reference, frameshift-variant
rs864321690 Pathogenic 28,616,337(+) AGGAT(A/G)GCCTG nc-transcript-variant, reference, stop-gained
rs864321691 Pathogenic 28,535,751(+) GAGGG(-/GG)ATGGT nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv2734606 CNV deletion 23290073
nsv1069036 CNV deletion 25765185
nsv951260 CNV duplication 24416366
nsv951261 CNV duplication 24416366

Variation tolerance for WAC Gene

Residual Variation Intolerance Score: 22.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WAC Gene

Human Gene Mutation Database (HGMD)
WAC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WAC

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

Disorders for WAC Gene

UniProtKB/Swiss-Prot

WAC_HUMAN
  • DeSanto-Shinawi syndrome (DESSH) [MIM:616708]: An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies. {ECO:0000269 PubMed:25356899, ECO:0000269 PubMed:26264232}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WAC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WAC

No disorders were found for WAC Gene.

No data available for MalaCards and Genatlas for WAC Gene

Publications for WAC Gene

  1. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. (PMID: 26264232) DeSanto C. … Shinawi M. (J. Med. Genet. 2015) 3 4 64
  2. Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC. (PMID: 22354037) McKnight N.C. … Tooze S.A. (EMBO J. 2012) 3 4 64
  3. WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. (PMID: 21329877) Zhang F. … Yu X. (Mol. Cell 2011) 3 4 64
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for WAC Gene

Sources for WAC Gene

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