UniProtKB - Q9BTA9 (WAC_HUMAN)
Protein
WW domain-containing adapter protein with coiled-coil
Gene
WAC
Organism
Homo sapiens (Human)
Status
Functioni
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).3 Publications
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- RNA polymerase II complex binding Source: UniProtKB
GO - Biological processi
- cellular response to DNA damage stimulus Source: UniProtKB
- G1 DNA damage checkpoint Source: UniProtKB
- histone H2B conserved C-terminal lysine ubiquitination Source: UniProtKB
- histone monoubiquitination Source: UniProtKB
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process Source: BHF-UCL
- positive regulation of macroautophagy Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: UniProtKB
- protein ubiquitination Source: Reactome
Keywordsi
Molecular function | Chromatin regulator |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9BTA9 |
Reactomei | R-HSA-8866654, E3 ubiquitin ligases ubiquitinate target proteins |
SignaLinki | Q9BTA9 |
Names & Taxonomyi
Protein namesi | Recommended name: WW domain-containing adapter protein with coiled-coil |
Gene namesi | Name:WAC Synonyms:KIAA1844 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000095787.21 |
HGNCi | HGNC:17327, WAC |
MIMi | 615049, gene |
neXtProti | NX_Q9BTA9 |
Subcellular locationi
Nucleus
- Nucleus speckle By similarity
- Nucleus 1 Publication
Note: In distinct nuclear speckles. Colocalizes with pre-mRNA processing complexes.By similarity
Nucleus
- nuclear speck Source: UniProtKB-SubCell
- nucleoplasm Source: HPA
- nucleus Source: BHF-UCL
- spliceosomal complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
DeSanto-Shinawi syndrome (DESSH)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMDefects 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.1 Publication
Organism-specific databases
DisGeNETi | 51322 |
GeneReviewsi | WAC |
MalaCardsi | WAC |
MIMi | 616708, phenotype |
OpenTargetsi | ENSG00000095787 |
Orphaneti | 284169, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 466950, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
PharmGKBi | PA134978936 |
Miscellaneous databases
Pharosi | Q9BTA9, Tbio |
Polymorphism and mutation databases
BioMutai | WAC |
DMDMi | 117949358 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000254558 | 1 – 647 | WW domain-containing adapter protein with coiled-coilAdd BLAST | 647 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 53 | PhosphoserineCombined sources | 1 | |
Modified residuei | 131 | PhosphoserineCombined sources | 1 | |
Modified residuei | 142 | PhosphoserineCombined sources | 1 | |
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 293 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 302 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 446 | PhosphoserineCombined sources | 1 | |
Modified residuei | 471 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 511 | PhosphoserineCombined sources | 1 | |
Modified residuei | 523 | PhosphoserineCombined sources | 1 | |
Modified residuei | 525 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Phosphorylated on tyrosine residues.By similarity
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9BTA9 |
jPOSTi | Q9BTA9 |
MassIVEi | Q9BTA9 |
MaxQBi | Q9BTA9 |
PaxDbi | Q9BTA9 |
PeptideAtlasi | Q9BTA9 |
PRIDEi | Q9BTA9 |
ProteomicsDBi | 78963 [Q9BTA9-1] 78964 [Q9BTA9-2] 78965 [Q9BTA9-3] 78966 [Q9BTA9-5] |
PTM databases
iPTMneti | Q9BTA9 |
PhosphoSitePlusi | Q9BTA9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000095787, Expressed in endothelial cell and 252 other tissues |
ExpressionAtlasi | Q9BTA9, baseline and differential |
Genevisiblei | Q9BTA9, HS |
Organism-specific databases
HPAi | ENSG00000095787, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ9BTA9
Isoform 2 [Q9BTA9-2]
With | #Exp. | IntAct |
---|---|---|
KRT15 [P19012] | 3 | EBI-10298216,EBI-739566 |
MTUS2 [Q5JR59] | 3 | EBI-10298216,EBI-742948 |
GO - Molecular functioni
- RNA polymerase II complex binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 119473, 50 interactors |
IntActi | Q9BTA9, 35 interactors |
MINTi | Q9BTA9 |
STRINGi | 9606.ENSP00000346986 |
Miscellaneous databases
RNActi | Q9BTA9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 129 – 162 | WWPROSITE-ProRule annotationAdd BLAST | 34 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 618 – 644 | Sequence analysisAdd BLAST | 27 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0152, Eukaryota |
GeneTreei | ENSGT00440000037780 |
HOGENOMi | CLU_024845_2_1_1 |
InParanoidi | Q9BTA9 |
OMAi | KMRDTAD |
OrthoDBi | 1111788at2759 |
PhylomeDBi | Q9BTA9 |
TreeFami | TF328635 |
Family and domain databases
CDDi | cd00201, WW, 1 hit |
InterProi | View protein in InterPro IPR038867, WAC IPR001202, WW_dom IPR036020, WW_dom_sf |
PANTHERi | PTHR15911, PTHR15911, 1 hit |
Pfami | View protein in Pfam PF00397, WW, 1 hit |
SMARTi | View protein in SMART SM00456, WW, 1 hit |
SUPFAMi | SSF51045, SSF51045, 1 hit |
PROSITEi | View protein in PROSITE PS01159, WW_DOMAIN_1, 1 hit PS50020, WW_DOMAIN_2, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BTA9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVMYARKQQR LSDGCHDRRG DSQPYQALKY SSKSHPSSGD HRHEKMRDAG
60 70 80 90 100
DPSPPNKMLR RSDSPENKYS DSTGHSKAKN VHTHRVRERD GGTSYSPQEN
110 120 130 140 150
SHNHSALHSS NSHSSNPSNN PSKTSDAPYD SADDWSEHIS SSGKKYYYNC
160 170 180 190 200
RTEVSQWEKP KEWLEREQRQ KEANKMAVNS FPKDRDYRRE VMQATATSGF
210 220 230 240 250
ASGMEDKHSS DASSLLPQNI LSQTSRHNDR DYRLPRAETH SSSTPVQHPI
260 270 280 290 300
KPVVHPTATP STVPSSPFTL QSDHQPKKSF DANGASTLSK LPTPTSSVPA
310 320 330 340 350
QKTERKESTS GDKPVSHSCT TPSTSSASGL NPTSAPPTSA SAVPVSPVPQ
360 370 380 390 400
SPIPPLLQDP NLLRQLLPAL QATLQLNNSN VDISKINEVL TAAVTQASLQ
410 420 430 440 450
SIIHKFLTAG PSAFNITSLI SQAAQLSTQA QPSNQSPMSL TSDASSPRSY
460 470 480 490 500
VSPRISTPQT NTVPIKPLIS TPPVSSQPKV STPVVKQGPV SQSATQQPVT
510 520 530 540 550
ADKQQGHEPV SPRSLQRSSS QRSPSPGPNH TSNSSNASNA TVVPQNSSAR
560 570 580 590 600
STCSLTPALA AHFSENLIKH VQGWPADHAE KQASRLREEA HNMGTIHMSE
610 620 630 640
ICTELKNLRS LVRVCEIQAT LREQRILFLR QQIKELEKLK NQNSFMV
Isoform 3 (identifier: Q9BTA9-3) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-45: Missing.
430-481: AQPSNQSPMS...PPVSSQPKVS → DIPLHEGIQM...MVQRLLQPSG
482-647: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MRT2 | A0A0A0MRT2_HUMAN | WW domain-containing adapter protei... | WAC | 495 | Annotation score: | ||
C9JD58 | C9JD58_HUMAN | WW domain-containing adapter protei... | WAC | 204 | Annotation score: | ||
C9JVK6 | C9JVK6_HUMAN | WW domain-containing adapter protei... | WAC | 173 | Annotation score: | ||
J3QTA0 | J3QTA0_HUMAN | WW domain-containing adapter protei... | WAC | 233 | Annotation score: | ||
A0A494C0B7 | A0A494C0B7_HUMAN | WW domain-containing adapter protei... | WAC | 117 | Annotation score: | ||
A0A494C0C1 | A0A494C0C1_HUMAN | WW domain-containing adapter protei... | WAC | 158 | Annotation score: | ||
A0A494C0S5 | A0A494C0S5_HUMAN | WW domain-containing adapter protei... | WAC | 171 | Annotation score: | ||
C9JMU2 | C9JMU2_HUMAN | WW domain-containing adapter protei... | WAC | 59 | Annotation score: | ||
Q9P1G8 | Q9P1G8_HUMAN | PRO1741 | WAC | 148 | Annotation score: | ||
E9PMZ7 | E9PMZ7_HUMAN | WW domain-containing adapter protei... | WAC | 36 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
The sequence AAH04258 differs from that shown. Reason: Frameshift.Curated
The sequence AAH10356 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 426 | L → F in BAB71029 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 581 | K → R in AAH10356 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 599 | S → P in BAD97320 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078694 | 47 – 647 | Missing Probable disease-associated variant found in a patient severe intellectual disability. 1 PublicationAdd BLAST | 601 | |
Natural variantiVAR_028838 | 242 | S → R. Corresponds to variant dbSNP:rs11595926Ensembl. | 1 | |
Natural variantiVAR_053448 | 309 | T → A. Corresponds to variant dbSNP:rs2232791EnsemblClinVar. | 1 | |
Natural variantiVAR_036351 | 475 | S → L in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_028839 | 531 | T → S. Corresponds to variant dbSNP:rs7127Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021230 | 1 – 45 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 45 | |
Alternative sequenceiVSP_021231 | 204 – 307 | MEDKH…TERKE → K in isoform 4. 1 PublicationAdd BLAST | 104 | |
Alternative sequenceiVSP_021233 | 430 – 481 | AQPSN…QPKVS → DIPLHEGIQMERDTHRSKWE VKGSLCQKADKQQECLVWNG SIMVQRLLQPSG in isoform 3. 1 PublicationAdd BLAST | 52 | |
Alternative sequenceiVSP_021236 | 482 – 647 | Missing in isoform 3. 1 PublicationAdd BLAST | 166 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055852 mRNA Translation: BAB71029.1 AK223600 mRNA Translation: BAD97320.1 AK290174 mRNA Translation: BAF82863.1 AL713727 mRNA Translation: CAD28517.1 AL161936 Genomic DNA No translation available. AL358234 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86032.1 CH471072 Genomic DNA Translation: EAW86035.1 CH471072 Genomic DNA Translation: EAW86037.1 CH471072 Genomic DNA Translation: EAW86039.1 CH471072 Genomic DNA Translation: EAW86040.1 CH471072 Genomic DNA Translation: EAW86042.1 BC004258 mRNA Translation: AAH04258.2 Frameshift. BC010356 mRNA Translation: AAH10356.1 Different initiation. AB058747 mRNA Translation: BAB47473.1 Sequence problems. |
CCDSi | CCDS7159.1 [Q9BTA9-1] CCDS7160.1 [Q9BTA9-5] CCDS7161.1 [Q9BTA9-2] |
RefSeqi | NP_057712.2, NM_016628.4 [Q9BTA9-1] NP_567822.1, NM_100264.2 [Q9BTA9-2] NP_567823.1, NM_100486.3 [Q9BTA9-5] XP_011517793.1, XM_011519491.2 |
Genome annotation databases
Ensembli | ENST00000347934; ENSP00000311106; ENSG00000095787 [Q9BTA9-5] ENST00000354911; ENSP00000346986; ENSG00000095787 [Q9BTA9-1] ENST00000375664; ENSP00000364816; ENSG00000095787 [Q9BTA9-2] ENST00000439676; ENSP00000415727; ENSG00000095787 [Q9BTA9-3] |
GeneIDi | 51322 |
KEGGi | hsa:51322 |
UCSCi | uc001iud.3, human [Q9BTA9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055852 mRNA Translation: BAB71029.1 AK223600 mRNA Translation: BAD97320.1 AK290174 mRNA Translation: BAF82863.1 AL713727 mRNA Translation: CAD28517.1 AL161936 Genomic DNA No translation available. AL358234 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86032.1 CH471072 Genomic DNA Translation: EAW86035.1 CH471072 Genomic DNA Translation: EAW86037.1 CH471072 Genomic DNA Translation: EAW86039.1 CH471072 Genomic DNA Translation: EAW86040.1 CH471072 Genomic DNA Translation: EAW86042.1 BC004258 mRNA Translation: AAH04258.2 Frameshift. BC010356 mRNA Translation: AAH10356.1 Different initiation. AB058747 mRNA Translation: BAB47473.1 Sequence problems. |
CCDSi | CCDS7159.1 [Q9BTA9-1] CCDS7160.1 [Q9BTA9-5] CCDS7161.1 [Q9BTA9-2] |
RefSeqi | NP_057712.2, NM_016628.4 [Q9BTA9-1] NP_567822.1, NM_100264.2 [Q9BTA9-2] NP_567823.1, NM_100486.3 [Q9BTA9-5] XP_011517793.1, XM_011519491.2 |
3D structure databases
SMRi | Q9BTA9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119473, 50 interactors |
IntActi | Q9BTA9, 35 interactors |
MINTi | Q9BTA9 |
STRINGi | 9606.ENSP00000346986 |
PTM databases
iPTMneti | Q9BTA9 |
PhosphoSitePlusi | Q9BTA9 |
Polymorphism and mutation databases
BioMutai | WAC |
DMDMi | 117949358 |
Proteomic databases
EPDi | Q9BTA9 |
jPOSTi | Q9BTA9 |
MassIVEi | Q9BTA9 |
MaxQBi | Q9BTA9 |
PaxDbi | Q9BTA9 |
PeptideAtlasi | Q9BTA9 |
PRIDEi | Q9BTA9 |
ProteomicsDBi | 78963 [Q9BTA9-1] 78964 [Q9BTA9-2] 78965 [Q9BTA9-3] 78966 [Q9BTA9-5] |
Protocols and materials databases
Antibodypediai | 50013, 118 antibodies |
DNASUi | 51322 |
Genome annotation databases
Ensembli | ENST00000347934; ENSP00000311106; ENSG00000095787 [Q9BTA9-5] ENST00000354911; ENSP00000346986; ENSG00000095787 [Q9BTA9-1] ENST00000375664; ENSP00000364816; ENSG00000095787 [Q9BTA9-2] ENST00000439676; ENSP00000415727; ENSG00000095787 [Q9BTA9-3] |
GeneIDi | 51322 |
KEGGi | hsa:51322 |
UCSCi | uc001iud.3, human [Q9BTA9-1] |
Organism-specific databases
CTDi | 51322 |
DisGeNETi | 51322 |
EuPathDBi | HostDB:ENSG00000095787.21 |
GeneCardsi | WAC |
GeneReviewsi | WAC |
HGNCi | HGNC:17327, WAC |
HPAi | ENSG00000095787, Low tissue specificity |
MalaCardsi | WAC |
MIMi | 615049, gene 616708, phenotype |
neXtProti | NX_Q9BTA9 |
OpenTargetsi | ENSG00000095787 |
Orphaneti | 284169, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 466950, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
PharmGKBi | PA134978936 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0152, Eukaryota |
GeneTreei | ENSGT00440000037780 |
HOGENOMi | CLU_024845_2_1_1 |
InParanoidi | Q9BTA9 |
OMAi | KMRDTAD |
OrthoDBi | 1111788at2759 |
PhylomeDBi | Q9BTA9 |
TreeFami | TF328635 |
Enzyme and pathway databases
PathwayCommonsi | Q9BTA9 |
Reactomei | R-HSA-8866654, E3 ubiquitin ligases ubiquitinate target proteins |
SignaLinki | Q9BTA9 |
Miscellaneous databases
BioGRID-ORCSi | 51322, 307 hits in 849 CRISPR screens |
ChiTaRSi | WAC, human |
GeneWikii | WAC_(gene) |
GenomeRNAii | 51322 |
Pharosi | Q9BTA9, Tbio |
PROi | PR:Q9BTA9 |
RNActi | Q9BTA9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000095787, Expressed in endothelial cell and 252 other tissues |
ExpressionAtlasi | Q9BTA9, baseline and differential |
Genevisiblei | Q9BTA9, HS |
Family and domain databases
CDDi | cd00201, WW, 1 hit |
InterProi | View protein in InterPro IPR038867, WAC IPR001202, WW_dom IPR036020, WW_dom_sf |
PANTHERi | PTHR15911, PTHR15911, 1 hit |
Pfami | View protein in Pfam PF00397, WW, 1 hit |
SMARTi | View protein in SMART SM00456, WW, 1 hit |
SUPFAMi | SSF51045, SSF51045, 1 hit |
PROSITEi | View protein in PROSITE PS01159, WW_DOMAIN_1, 1 hit PS50020, WW_DOMAIN_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | WAC_HUMAN | |
Accessioni | Q9BTA9Primary (citable) accession number: Q9BTA9 Secondary accession number(s): A8K2A9 Q96JI3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | October 31, 2006 | |
Last modified: | December 2, 2020 | |
This is version 160 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations