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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 ... See more...
Aliases for WAC Gene
Aliases for WAC Gene
External Ids for WAC Gene
- HGNC: 17327
- Entrez Gene: 51322
- Ensembl: ENSG00000095787
- OMIM: 615049
- UniProtKB: Q9BTA9
Previous GeneCards Identifiers for WAC Gene
- GC10P028971
- GC10P028825
- GC10P028861
Summaries 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. Diseases associated with WAC include Desanto-Shinawi Syndrome and Branchial Cleft Anomalies. Among its related pathways are Protein ubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include chromatin binding and RNA polymerase II complex binding.
UniProtKB/Swiss-Prot Summary for WAC Gene
-
Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) (PubMed:21329877). 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 (PubMed:21329877). Regulates the cell-cycle checkpoint activation in response to DNA damage (PubMed:21329877). Positive regulator of amino acid starvation-induced autophagy (PubMed:22354037). Also acts as a negative regulator of basal autophagy (PubMed:26812014). Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). May negatively regulate the ubiquitin proteasome pathway (PubMed:21329877).
Additional gene information for WAC Gene
- Monarch Initiative
- Search for WAC at DataMed
- Search for WAC at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WAC Gene
Genomics for WAC Gene
GeneHancer (GH) Regulatory Elements for WAC Gene
Promoters and enhancers for WAC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around WAC on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the WAC gene promoter:
-
- c-Myb
- CUTL1
- GATA-2
- MZF-1
- Pax-4a
Genomic Locations for WAC Gene
Genomic Locations for WAC Gene
- chr10:28,532,493-28,623,112
- (GRCh38/hg38)
- Size:
- 90,620 bases
- Orientation:
- Plus strand
- chr10:28,821,422-28,912,041
- (GRCh37/hg19)
- 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:
-
- 10p12.1 by HGNC
- 10p12.1|10p12.1-p11.2 by Entrez Gene
- 10p12.1 by Ensembl
WAC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (PubMed:21329877). Interacts (via WW domain) with RNA polymerase II (PubMed:21329877). Interacts with MTOR and other components of the MTOR pathway including RPTOR, RUVBL1, RUVBL2, TTI1 and TTI2 (PubMed:26812014).
- 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};
Protein Expression for WAC Gene
Post-translational modifications for WAC Gene
- Phosphorylated on tyrosine residues.
-
Ubiquitination at Lys466 and Lys486
- NX_Q9BTA9 (NX_Q9BTA9-1)
- Modification sites at PhosphoSitePlus
Other Protein References for WAC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-WAC Antibody (HPA036528) and Anti-WAC Antibody (HPA042609)
- Creative Diagnostics Anti-WAC (center region) polyclonal antibody, Anti-WAC (aa 450-550) polyclonal antibody, and Anti-WAC monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for WAC
- Novus Biologicals Antibodies for WAC
-
Abcam antibodies for WAC
- Invitrogen Antibodies for WAC (AFLGC-WAC)
-
Biorbyt antibodies for WAC
-
Custom Antibody ServicesProSci Antibodies for WAC
Protein Products
- Atlas Antibodies PrEST Antigen WAC (APrEST80181) and PrEST Antigen WAC (APrEST90960)
- Creative Biomart Recombinant Human WAC 293 Cell Lysate
-
OriGene Purified Proteins for WAC
- Search Origene for MassSpec and Protein Over-expression Lysates for WAC
- Origene Custom Protein Services for WAC
- antibodies-online: Search results for available WAC related products ranked by validation data
-
Abcam proteins for WAC
No data available for DME Specific Peptides for WAC Gene
Domains & Families for WAC Gene
Gene Families for WAC Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for WAC Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55932, highly similar to Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 2, mRNA (B4DMH1_HUMAN)
- WW domain-containing adapter protein with coiled-coil (WAC_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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) (PubMed:21329877). 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 (PubMed:21329877). Regulates the cell-cycle checkpoint activation in response to DNA damage (PubMed:21329877). Positive regulator of amino acid starvation-induced autophagy (PubMed:22354037). Also acts as a negative regulator of basal autophagy (PubMed:26812014). Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). May negatively regulate the ubiquitin proteasome pathway (PubMed:21329877).
Phenotypes From GWAS Catalog for WAC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000993 | RNA polymerase II complex binding | IDA | 21329877 |
| GO:0003682 | chromatin binding | IDA | 21329877 |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for WAC Gene
- MGI mutant phenotypes for WAC:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for WAC:
Animal Models for WAC Gene
- MGI Knock Outs for WAC:
-
- Wac Wac<tm2b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for WAC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WAC
- genomics-online: gRNA clones - Search for available WAC gRNA products
- Overview of 148 available WAC gene related products
- Applied Biological Materials (abm): CRISPR Clones for WAC - Select products 50% OFF >
- * WAC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * WAC CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for WAC
miRNA for WAC Gene
- miRTarBase miRNAs that target WAC
-
- hsa-mir-484 (MIRT042156)
- hsa-mir-18b-5p (MIRT042412)
- hsa-mir-15b-5p (MIRT046410)
- hsa-mir-93-5p (MIRT048913)
- hsa-mir-20a-5p (MIRT050624)
- hsa-mir-18a-5p (MIRT050717)
- hsa-mir-17-5p (MIRT051026)
- hsa-mir-3658 (MIRT056285)
- hsa-mir-106a-5p (MIRT056302)
- hsa-mir-154-5p (MIRT056303)
- hsa-mir-106b-5p (MIRT056304)
- hsa-mir-20b-5p (MIRT056305)
- hsa-mir-526b-3p (MIRT056306)
- hsa-mir-519d-3p (MIRT056307)
- hsa-mir-548t-5p (MIRT056311)
- hsa-mir-4709-5p (MIRT056312)
- hsa-mir-5590-5p (MIRT056313)
- hsa-mir-548az-5p (MIRT056314)
- hsa-mir-595 (MIRT126690)
- hsa-mir-764 (MIRT126694)
- hsa-mir-3153 (MIRT126699)
- hsa-mir-4261 (MIRT126701)
- hsa-mir-4772-5p (MIRT126711)
- hsa-mir-6513-3p (MIRT126717)
- hsa-mir-6733-5p (MIRT126718)
- hsa-mir-6739-5p (MIRT126719)
- hsa-mir-577 (MIRT177378)
- hsa-mir-583 (MIRT177379)
- hsa-mir-4428 (MIRT177380)
- hsa-mir-6888-5p (MIRT177381)
- hsa-mir-4672 (MIRT177382)
- hsa-mir-6768-5p (MIRT177383)
- hsa-mir-19a-3p (MIRT177384)
- hsa-mir-19b-3p (MIRT177385)
- hsa-mir-345-3p (MIRT245268)
- hsa-mir-1247-5p (MIRT245269)
- hsa-mir-515-3p (MIRT245279)
- hsa-mir-519e-3p (MIRT245280)
- hsa-mir-33b-3p (MIRT245282)
- hsa-mir-6768-3p (MIRT262237)
- hsa-mir-6885-5p (MIRT464050)
- hsa-mir-328-5p (MIRT464051)
- hsa-mir-7111-5p (MIRT464052)
- hsa-mir-6870-5p (MIRT464053)
- hsa-mir-4723-5p (MIRT464054)
- hsa-mir-5698 (MIRT464055)
- hsa-mir-486-3p (MIRT464056)
- hsa-mir-6825-5p (MIRT464057)
- hsa-mir-6721-5p (MIRT464058)
- hsa-mir-6883-5p (MIRT464059)
- hsa-mir-6785-5p (MIRT464060)
- hsa-mir-4728-5p (MIRT464061)
- hsa-mir-149-3p (MIRT464062)
- hsa-mir-4763-3p (MIRT464063)
- hsa-mir-1207-5p (MIRT464064)
- hsa-mir-6797-5p (MIRT464065)
- hsa-mir-1249-5p (MIRT464066)
- hsa-mir-6722-3p (MIRT464067)
- hsa-mir-6798-5p (MIRT464068)
- hsa-mir-1909-3p (MIRT464069)
- hsa-mir-6794-5p (MIRT464070)
- hsa-mir-4716-3p (MIRT464071)
- hsa-mir-5584-5p (MIRT464072)
- hsa-mir-4717-5p (MIRT464073)
- hsa-mir-4753-5p (MIRT464074)
- hsa-mir-3653-3p (MIRT464075)
- hsa-mir-1276 (MIRT464076)
- hsa-mir-4311 (MIRT464077)
- hsa-mir-6833-5p (MIRT697691)
- hsa-mir-493-5p (MIRT697692)
- hsa-let-7g-3p (MIRT697693)
- hsa-let-7a-2-3p (MIRT697694)
- hsa-let-7c-3p (MIRT697695)
- hsa-mir-5007-3p (MIRT697696)
- hsa-mir-3911 (MIRT697697)
- hsa-mir-3190-3p (MIRT697698)
- hsa-mir-383-5p (MIRT697699)
- hsa-mir-1279 (MIRT697700)
- hsa-mir-3934-5p (MIRT697701)
- hsa-mir-125a-3p (MIRT697702)
- hsa-mir-6757-3p (MIRT697703)
- hsa-mir-3679-3p (MIRT697704)
- hsa-mir-6826-3p (MIRT697705)
- hsa-mir-4522 (MIRT697706)
- hsa-mir-219a-2-3p (MIRT697707)
- hsa-mir-219b-3p (MIRT697708)
- hsa-mir-342-3p (MIRT697709)
- hsa-mir-6780b-3p (MIRT697710)
- hsa-mir-6756-3p (MIRT697711)
- hsa-mir-3127-3p (MIRT697712)
- hsa-mir-6810-3p (MIRT697713)
- hsa-mir-6801-3p (MIRT697714)
- hsa-mir-331-3p (MIRT697715)
- hsa-mir-424-3p (MIRT743290)
- hsa-mir-548ad-3p (MIRT750491)
- hsa-mir-3680-3p (MIRT785227)
- hsa-mir-450b-5p (MIRT786070)
- hsa-mir-4735-5p (MIRT786575)
- hsa-mir-4775 (MIRT786732)
- hsa-mir-507 (MIRT787051)
- hsa-mir-557 (MIRT787660)
- hsa-mir-590-3p (MIRT787963)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for WAC
- Browse OriGene Inhibitory RNA Products For WAC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAC
- genomics-online: shRNA clones - Search for available WAC shRNA products
- Overview of 148 available WAC gene related products
Clone Products
-
- MG209727
- MG215900
- MR209727
- MR209727L3
- MR209727L3V
- MR209727L4
- MR209727L4V
- MR215900
- MR215900L3
- MR215900L3V
- MR215900L4
- MR215900L4V
- MR230641
- RC202553
- RC202553L1
- RC202553L1V
- RC202553L2
- RC202553L2V
- RC202553L3
- RC202553L3V
- RC202553L4
- RC202553L4V
- RC224250
- RC224250L3
- RC224250L3V
- RC224250L4
- RC224250L4V
- RG202553
- RG224250
- RR217039
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for WAC
- Addgene plasmids for WAC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WAC
- genomics-online: cdna clones - Search for available WAC CDNA products
- Overview of 148 available WAC gene related products
- orf clones - Search for available WAC ORF products
- Overview of 148 available WAC gene related products
- Applied Biological Materials (abm): Clones for WAC - Select products 50% OFF >
- * WAC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * WAC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for WAC
No data available for Enzyme Numbers (IUBMB) , 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. {ECO:0000250 UniProtKB:Q924H7}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,TAS | 22354037 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005681 | spliceosomal complex | IEA | -- |
| GO:0016607 | nuclear speck | IEA | -- |
Pathways & Interactions for WAC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Protein ubiquitination | ||
| 2 | Metabolism of proteins | ||
Pathways by source for WAC Gene
4 Reactome pathways for WAC Gene
Interacting Proteins for WAC Gene
Selected Interacting proteins:
Q9BTA9-WAC_HUMAN
ENSP00000346986
for WAC Gene via
UniProtKB
STRING
IID
| Symbol | External ID(s) | Details |
|---|---|---|
| KRT15 | ||
| NFE2L2 | ||
| SYTL5 | ||
| AKAP9 | ||
| CDKN2AIPNL |
GPS-Prot Interaction Network for WAC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | 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 |
| GO:0016567 | protein ubiquitination | TAS | -- |
No data available for SIGNOR curated interactions for WAC Gene
Drugs & Compounds for WAC Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen WAC (APrEST80181) and PrEST Antigen WAC (APrEST90960)
- Creative Biomart Recombinant Human WAC 293 Cell Lysate
Transcripts for WAC Gene
mRNA/cDNA for WAC Gene
- (3) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (546) Selected AceView cDNA sequences:
- (24) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000345541 4526 bps (ENST00000345541.6)
- ENST00000347934 2839 bps (ENST00000347934.8)
- ENST00000354911 3042 bps (ENST00000354911.8)
- ENST00000375646 2176 bps (ENST00000375646.5)
- ENST00000375664 5924 bps (ENST00000375664.8)
CRISPR Products
-
OriGene CRISPR knockouts for WAC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WAC
- genomics-online: gRNA clones - Search for available WAC gRNA products
- Overview of 148 available WAC gene related products
- Applied Biological Materials (abm): CRISPR Clones for WAC - Select products 50% OFF >
- * WAC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * WAC CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for WAC
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for WAC
- Browse OriGene Inhibitory RNA Products For WAC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAC
- genomics-online: shRNA clones - Search for available WAC shRNA products
- Overview of 148 available WAC gene related products
Clone Products
-
- MG209727
- MG215900
- MR209727
- MR209727L3
- MR209727L3V
- MR209727L4
- MR209727L4V
- MR215900
- MR215900L3
- MR215900L3V
- MR215900L4
- MR215900L4V
- MR230641
- RC202553
- RC202553L1
- RC202553L1V
- RC202553L2
- RC202553L2V
- RC202553L3
- RC202553L3V
- RC202553L4
- RC202553L4V
- RC224250
- RC224250L3
- RC224250L3V
- RC224250L4
- RC224250L4V
- RG202553
- RG224250
- RR217039
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for WAC
- Addgene plasmids for WAC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WAC
- genomics-online: cdna clones - Search for available WAC CDNA products
- Overview of 148 available WAC gene related products
- orf clones - Search for available WAC ORF products
- Overview of 148 available WAC gene related products
- Applied Biological Materials (abm): Clones for WAC - Select products 50% OFF >
- * WAC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * WAC tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
Expression for WAC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Ovary (Reproductive System)
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, MaxQB, and MOPED for WAC Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of WAC Gene:
WACSOURCE GeneReport for Unigene cluster for WAC Gene:
Hs.743224Evidence on tissue expression from TISSUES for WAC Gene
- Nervous system(4.9)
- Kidney(4.4)
- Liver(4.3)
- Lung(3.1)
- Eye(2.9)
- Blood(2.8)
- Intestine(2.2)
- Spleen(2.1)
Primer Products
-
OriGene qPCR primer pairs for WAC
-
OriGene qPCR primer pairs and template standards for WAC
- genomics-online: primer clones - Search for available WAC Primer products
- Overview of 148 available WAC gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WAC Gene
Orthologs for WAC Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | WAC 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| -- 33 |
|
OneToMany | |||
| WAC 32 |
|
||||
| -- 33 |
|
OneToMany | |||
| -- 33 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | WAC 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | WAC 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | WAC 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Wac 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | RGD1562407 32 |
|
||
| chicken (Gallus gallus) |
Aves | WAC 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | WAC 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | wac 32 |
|
||
| Str.2721 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.17846 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | waca 33 32 |
|
OneToMany | |
| wacb 33 |
|
OneToMany | |||
| WAC (3 of 3) 33 |
|
OneToMany | |||
| wufc13f04 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8949 33 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for WAC: view image
Paralogs for WAC Gene
No data available for Paralogs for WAC Gene
Variants for WAC Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1135401769 | pathogenic, Desanto-shinawi syndrome | 28,590,718(+) | A/G | splice_acceptor_variant | |
| rs147282072 | uncertain-significance, Inborn genetic diseases | 28,614,577(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1554791124 | pathogenic, Desanto-shinawi syndrome | 28,611,923(+) | G/A | splice_donor_variant | |
| rs1554791943 | pathogenic, Desanto-shinawi syndrome, not provided | 28,616,264(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs1554791975 | likely-pathogenic, Desanto-shinawi syndrome | 28,616,363(+) | G/A | splice_donor_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2734606 | CNV | deletion | 23290073 |
| nsv1069036 | CNV | deletion | 25765185 |
| nsv951260 | CNV | duplication | 24416366 |
| nsv951261 | CNV | duplication | 24416366 |
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)
Additional Variant Information for WAC Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WAC Gene
Disorders for WAC Gene
(4) MalaCards diseases for WAC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| desanto-shinawi syndrome |
|
|
| branchial cleft anomalies |
|
|
| wac-related intellectual disability |
|
|
| cerebritis |
|
|
Search WAC in MalaCards
View complete list of genes associated with diseases
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.
- Note=Defects in WAC are the cause of a form of intellectual disability characterized by hypotonia, behavioral problems and distinctive facial dysmorphisms including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. {ECO:0000269 PubMed:26757981}.
Additional Disease Information for WAC
No data available for Genatlas for WAC Gene
Publications for WAC Gene
- De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. (PMID: 26757981) Lugtenberg D … Vissers LE (European journal of human genetics : EJHG 2016) 3 4 56
- 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 (Journal of medical genetics 2015) 3 4 56
- Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC. (PMID: 22354037) McKnight NC … Tooze SA (The EMBO journal 2012) 3 4 56
- WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. (PMID: 21329877) Zhang F … Yu X (Molecular cell 2011) 3 4 56
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56
ExternalLinks
Products for WAC Gene
- Custom Antibody ServicesOriGene Antibodies for WAC
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for WAC
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- Origene sirna, shrna, and RNAi products in human, mouse, rat for WAC
- Browse OriGene Inhibitory RNA Products For WAC
- OriGene qPCR primer pairs for WAC
- OriGene qPCR primer pairs and template standards for WAC
- OriGene CRISPR knockouts for WAC
- MG209727
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- MR209727
- MR209727L3
- MR209727L3V
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- RC202553
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- RC224250
- RC224250L3
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- RC224250L4
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- RG202553
- RG224250
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for WAC
- Novus Biologicals proteins and lysates for WAC
- Browse Antibodies
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- Abcam antibodies for WAC
- Abcam proteins for WAC
- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for WAC (AFLGC-WAC)
- Addgene plasmids for WAC
- antibodies-online: Show 11 available WAC Antibodies ranked by validation data
- Compare Top WAC Antibodies
- antibodies-online: Search results for available WAC related products ranked by validation data
- antibodies-online: Search results for available WAC related products ranked by validation data
- Custom Antibody ServicesProSci Antibodies for WAC
- Search for WAC Proteins at ProSci
- Horizon Cell Lines for WAC
- genomics-online: cdna clones - Search for available WAC CDNA products
- Overview of 148 available WAC gene related products
- orf clones - Search for available WAC ORF products
- Overview of 148 available WAC gene related products
- genomics-online: gRNA clones - Search for available WAC gRNA products
- Overview of 148 available WAC gene related products
- genomics-online: primer clones - Search for available WAC Primer products
- Overview of 148 available WAC gene related products
- genomics-online: shRNA clones - Search for available WAC shRNA products
- Overview of 148 available WAC gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WAC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WAC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for WAC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAC
- Biorbyt antibodies for WAC
Sources for WAC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource