WAC - WW domain containing adaptor with coiled-coil Gene

Homo sapiens

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

Gene ID: 51322 | Gene type: protein coding

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	Reference	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	Reference	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

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

Protein Preferred Names

Protein Names

WW domain-containing adapter protein with coiled-coil

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15737	WAC Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.