WDR81 - WD repeat domain 81 Gene

Also Known as HYC3; CAMRQ2; SORF-2; PPP1R166

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 124997

About WDR81

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,716,523-1,738,585 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 204 orthologues, 26 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

WDR81 Products (4)

mRNA	Protein	Name
NM_001163673.2	NP_001157145.1	WD repeat-containing protein 81 isoform 3
NM_001163809.2	NP_001157281.1	WD repeat-containing protein 81 isoform 1
NM_001163811.2	NP_001157283.1	WD repeat-containing protein 81 isoform 4
NM_152348.4	NP_689561.2	WD repeat-containing protein 81 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables K63-linked polyubiquitin modification-dependent protein binding	IDA IDA: Inferred from direct assay	28404643	GOA
enables phosphatidylinositol 3-kinase inhibitor activity	IMP IMP: Inferred from mutant phenotype	26783301	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26783301	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in aggrephagy	IMP IMP: Inferred from mutant phenotype	28404643	GOA
involved in early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	26783301	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	26783301	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	28404643	GOA

Cellular Component GO Annotation	Evidence	References	Source
NOT located in Golgi apparatus	IDA IDA: Inferred from direct assay	28404643	GOA
located in autophagosome membrane	IDA IDA: Inferred from direct assay	28404643	GOA
located in cytosol	IDA IDA: Inferred from direct assay	26783301	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	26783301	GOA
NOT located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	28404643	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	26783301	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	26783301	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	27126989	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	28404643	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

WDR81 Protein Structure

Beach

WD40

0
300
600
900
1200
1500
1800
1941 a.a.

Protein Preferred Names	Protein Names
WD repeat-containing protein 81	protein phosphatase 1, regulatory subunit 166

WDR81 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	WDR81	Q562E7	WDR91	Homo sapiens	A4D1P6	Anti Tag CoIP	27126989

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 2 CAMRQ2 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 2 Ataxia, Cerebellar, Mental Retardation, And Dysequilibrium Syndrome, Type 2
Hydrocephalus, Congenital, 3, With Brain Anomalies	HYC3 Hydrocephalus, Nonsyndromic, Autosomal Recessive 3, Formerly Hydrocephalus, Non-Syndromic, Autosomal Recessive 3
Microlissencephaly
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Dysequilibrium Syndrome CAMRQ1 Des Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1 Cerebellar Hypoplasia, Vldlr-Associated Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome Uner Tan Syndrome Vldlr Cerebellar Hypoplasia Vldlrch Vldlr-Associated Cerebellar Hypoplasia Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive Camrq Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 Cerebellar Disorder, Nonprogressive, With Intellectual Disability Cerebellar Hypoplasia, Vldlr Associated Autosomal Recessive Cerebellar Ataxia With Mental Retardation Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification Cerebellar Disorder, Nonprogressive, With Mental Retardation Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion Chmrq1 Des-Vldlr Dysequilibrium Syndrome-Vldlr Vldlr-Ch Camrq Syndrome Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome Uts Cerebellar Hypoplasia Vldlr-Associated Dialysis Disequilibrium Syndrome
Hydranencephaly	Hydroanencephaly
Cerebellar Hypoplasia
Congenital Hydrocephalus	Hydrocephalus Hydrocephalus Adverse Event Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus In Newborn Congenital Hydrocephaly
Autosomal Recessive Congenital Cerebellar Ataxia
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	CECBA Cerebellar Ataxia, Nonprogressive, With Mental Retardation Canpmr Nonprogressive Cerebellar Ataxia With Mental Retardation Non-Progressive Cerebellar Ataxia With Intellectual Disability Ataxia, Cerebellar, Nonprogressive, With Mental Retardation
Scalp-Ear-Nipple Syndrome	Finlay-Marks Syndrome Sen Syndrome SENS Scalp Ear Nipple Syndrome Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples Indian Childhood Cirrhosis
Chromosome 17p13.3, Centromeric, Duplication Syndrome	Chromosome 17p13.3 Duplication Syndrome 17p13.3 Duplication Syndrome 17p13.3 Microduplication Syndrome Trisomy 17p13.3 Chromosome 17p13.3 Centromeric Duplication Syndrome Dup(17)(P13.3)
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Gillespie Syndrome	GLSP Aniridia, Cerebellar Ataxia And Mental Deficiency Aniridia Cerebellar Ataxia Mental Deficiency Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome Aniridia-Cerebellar Ataxia-Intellectual Disability Aniridia-Cerebellar Ataxia-Mental Deficiency Partial Aniridia-Cerebellar Ataxia-Oligophrenia Aniridia, Cerebellar Ataxia, And Intellectual Disability
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15799	WDR81 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	WDR81	VGNC	VGNC:55886
Mus musculus	WDR81	MGD	MGI:2681828
Macaca mulatta	WDR81	VGNC	VGNC:104674
Canis familiaris	WDR81	VGNC	VGNC:48390
Rattus norvegicus	WDR81	RGD	RGD:1311334
Felis catus	WDR81	VGNC	VGNC:67058
Others	WDR81	NCBI