WAC (WW domain containing adaptor with coiled-coil)

2014-08-01  

Identity

HGNC
LOCATION
10p12.1
LOCUSID
ALIAS
BM-016,DESSH,PRO1741,Wwp4
FUSION GENES

Other Information

Locus ID:

NCBI: 51322
MIM: 615049
HGNC: 17327
Ensembl: ENSG00000095787

Variants:

dbSNP: 51322
ClinVar: 51322
TCGA: ENSG00000095787
COSMIC: WAC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095787ENST00000347934Q9BTA9
ENSG00000095787ENST00000354911Q9BTA9
ENSG00000095787ENST00000375646A0A0A0MRT2
ENSG00000095787ENST00000375664Q9BTA9
ENSG00000095787ENST00000414108J3QTA0
ENSG00000095787ENST00000420266C9JD58
ENSG00000095787ENST00000424454J3QT76
ENSG00000095787ENST00000428935Q9P1G8
ENSG00000095787ENST00000439676Q9BTA9
ENSG00000095787ENST00000442148C9JVK6
ENSG00000095787ENST00000448193C9JMU2
ENSG00000095787ENST00000526722E9PMZ7
ENSG00000095787ENST00000628285Q9P1G8
ENSG00000095787ENST00000651441A0A494C0B7
ENSG00000095787ENST00000651598A0A494C0C1
ENSG00000095787ENST00000651885A0A494C0S5

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Protein ubiquitinationREACTOMER-HSA-8852135
E3 ubiquitin ligases ubiquitinate target proteinsREACTOMER-HSA-8866654

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223540372012Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC.46
266875992015Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130.42
262642322015WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.10
267579812016De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.9
300211532018WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry.3
271197542016A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.1

Citation

Dessen P

WAC (WW domain containing adaptor with coiled-coil)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54771/wac