WAC - WW domain containing adaptor with coiled-coil Gene

Also Known as Wwp4; DESSH; BM-016; PRO1741

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51322

About WAC

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:28,532,779-28,623,112 (from NCBI)

This gene has 28 transcripts (splice variants), 292 orthologues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 29.5), thyroid (RPKM 26.4) and 25 other tissues.

Summary

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]

WAC Products (3)

mRNA	Protein	Name
NM_016628.5	NP_057712.2	WW domain-containing adapter protein with coiled-coil isoform 1
NM_100264.3	NP_567822.1	WW domain-containing adapter protein with coiled-coil isoform 2
NM_100486.4	NP_567823.1	WW domain-containing adapter protein with coiled-coil isoform 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables RNA polymerase II complex binding	IDA IDA: Inferred from direct assay	21329877	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	21329877	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	21329877	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	21329877	GOA
involved in mitotic G1 DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	21329877	GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	22354037	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	21329877	GOA
involved in positive regulation of macroautophagy	IMP IMP: Inferred from mutant phenotype	22354037	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WAC Protein Structure

WW

0
100
200
300
400
500
600
647 a.a.

Protein Preferred Names	Protein Names
WW domain-containing adapter protein with coiled-coil

WAC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	WAC	Q9BTA9	KLC3	Homo sapiens	Q6P597	Validated Y2H	25416956
Intra	WAC	Q9BTA9	NFE2L2	Homo sapiens	Q16236	Y2H Array	25416956
Intra	WAC	Q9BTA9	NFE2L2	Homo sapiens	Q16236	Y2H Prey Pooling	25416956
Intra	WAC	Q9BTA9	SYTL5	Homo sapiens	Q8TDW5	Y2H Array	25416956
Intra	WAC	Q9BTA9	TRAF1	Homo sapiens	Q13077	Validated Y2H	25416956
Intra	WAC	Q9BTA9	HTT	Homo sapiens	P42858	Y2H	17500595
Intra	WAC	Q9BTA9	KRT15	Homo sapiens	P19012	Y2H Array	25416956
Intra	WAC	Q9BTA9	DYDC1	Homo sapiens	Q8WWB3	Y2H Prey Pooling	25416956
Intra	WAC	Q9BTA9	DYDC1	Homo sapiens	Q8WWB3	Validated Y2H	25416956
Intra	WAC	Q9BTA9	MTUS2	Homo sapiens	Q5JR59	Y2H Prey Pooling	25416956
Intra	WAC	Q9BTA9	MTUS2	Homo sapiens	Q5JR59	Validated Y2H	25416956
Intra	WAC	Q9BTA9	MTUS2	Homo sapiens	Q5JR59	Y2H Array	25416956
Intra	WAC	Q9BTA9	TRAF3IP3	Homo sapiens	Q9Y228	Y2H Prey Pooling	25416956
Intra	WAC	Q9BTA9	TRAF3IP3	Homo sapiens	Q9Y228	Validated Y2H	25416956
Intra	WAC	Q9BTA9	AKAP9	Homo sapiens	Q99996-2	Y2H Prey Pooling	25416956
Intra	WAC	Q9BTA9	AKAP9	Homo sapiens	Q99996-2	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Desanto-Shinawi Syndrome	Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10p11.21p12.31 Microdeletion Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome DESSH Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, And Ocular Abnormalities Chromosome 10p12-P11 Deletion Syndrome 10p12p11 Microdeletion Syndrome Del(10)(P11.21p12.31) Deletion 10p11.21p12.31 Monosomy 10p11.21p12.31
Branchial Cleft Anomalies	Second Branchial Cleft Cyst Second Branchial Cleft Anomaly Second Branchial Cleft Fistula
Amelogenesis Imperfecta, Type Iiia	Ai3 Adhcai Amelogenesis Imperfecta Type 3 AI3A Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant Amelogenesis Imperfecta Type 3a Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iii Hypocalcified Amelogenesis Imperfecta Amelogenesis Imperfecta, Type 3 Amelogenesis Imperfecta, Hypomineralization Type Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3a Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Hypotonia
Cerebellar Astrocytoma	Astrocytoma Of Cerebellum
Constipation
Weyers Acrofacial Dysostosis	Curry-Hall Syndrome Weyers Acrodental Dysostosis WAD Acrodental Dysostosis Of Weyers Acrofacial Dysostosis, Weyers Type Acrofacial Dysostosis Of Weyers Curry Hall Syndrome
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15737	WAC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	WAC	VGNC	VGNC:66997
Mus musculus	WAC	MGD	MGI:2387357
Rattus norvegicus	WAC	RGD	RGD:1562407
Macaca mulatta	WAC	VGNC	VGNC:79072
Bos taurus	WAC	VGNC	VGNC:36861
Others	WAC	NCBI