| Type | Description |
|---|---|
| Definition | WW domain containing adaptor with coiled-coil |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 12:57:00 | A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). | 32214004 |
| 2019-12-07 10:09:00 | these results indicate an important role for WAC in promoting Plk1 activation and the timely entry into mitosis. | 30021153 |
| 2017-10-28 13:45:00 | Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders. | 27119754 |
| 2017-07-29 11:52:00 | De novo WAC loss-of-function mutations were identified through exome sequencing of individuals with unexplained intellectual disability. | 26757981 |
| 2016-08-06 10:33:00 | WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome | 26264232 |
| Type | IDs |
|---|---|
| Synonymous | BM-016, DESSH, PRO1741, Wwp4 |
| Gene |
UniProtKB-ID:
WAC_HUMAN
UniprotKB:
Q9BTA9
UniParc:
UPI0000160CE5,
UPI000013D398,
UPI0000037C9D,
UPI000013F126
EMBL:
BC010356,
AB058747,
AK223600,
CH471072,
AL161936,
AL713727,
AK055852,
AL358234,
AK290174,
BC004258
Ensembl:
ENSG00000095787
KO:
hsa:51322
|
| Nucleutide sequences |
EMBL-CDS:
CAD28517.1,
BAB71029.1,
AAH10356.1,
EAW86035.1,
BAD97320.1,
AAH04258.2,
BAF82863.1,
EAW86040.1,
EAW86042.1,
EAW86032.1,
EAW86037.1,
EAW86039.1,
BAB47473.1
Ensembl_TRS:
ENST00000347934,
ENST00000375664,
ENST00000439676,
ENST00000354911
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000364816,
ENSP00000311106,
ENSP00000415727,
ENSP00000346986
RefSeq:
NP_567823.1,
XP_016871804.1,
NP_567822.1,
XP_016871806.1,
XP_016871807.1,
NP_057712.2,
XP_024303804.1
|
| Others |
UniRef100:
UniRef100_Q9BTA9
UniRef90:
UniRef90_Q9BTA9
UniRef50:
UniRef50_Q9BTA9
UniGene:
Hs.743224
CCDS:
CCDS7159.1,
CCDS7160.1,
CCDS7161.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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