WDR81 WD repeat domain 81 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR81provided by HGNC
Official Full Name: WD repeat domain 81provided by HGNC
Primary source: HGNC:HGNC:26600
See related: Ensembl:ENSG00000167716 MIM:614218; AllianceGenome:HGNC:26600
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HYC3; CHMRQ; CAMRQ2; SORF-2; PPP1R166
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]
Expression: Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1716523..1738585)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1605452..1627518)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1619817..1641879)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Title: Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
WDR81 Gene Silencing Can Reduce Exosome Levels in Human U87-MG Glioblastoma Cells.
Title: WDR81 Gene Silencing Can Reduce Exosome Levels in Human U87-MG Glioblastoma Cells.
suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation
Title: A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.
The WDR81 interacts with LC3C through canonical LC3-interacting regions in the BEACH domain, promoting LC3C recruitment to ubiquitinated proteins.
Title: The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.
The results of this study suggest that the WDR81 might have a role in mitosis that is conserved between Drosophila and humans.
Title: WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus.
Title: The genetic landscape of familial congenital hydrocephalus.
WDR81 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss.
Title: Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
The neuro-ophthalmic examination in CAMRQ2 revealed downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in two patients.
Title: Neuro-ophthalmologic findings in humans with quadrupedal locomotion.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MedGen: C2750234 OMIM: 610185 GeneReviews: Not available	not available
Hydrocephalus, congenital, 3, with brain anomalies MedGen: C4747885 OMIM: 617967 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and fine mapping of serum protein loci through transethnic meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu requires WDR81 in Vpu-mediated downregulation of tetherin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32238 (e-PCR)
- UniSTS:27935

RH15862 (e-PCR)
- UniSTS:57226

WIAF-2225 (e-PCR)
- UniSTS:71134

D17S1468E (e-PCR)
- UniSTS:150508

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K63-linked polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol 3-kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol 3-kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aggrephagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in aggrephagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
NOT located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
NOT located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 81

Names: protein phosphatase 1, regulatory subunit 166

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032811.1 RefSeqGene

Range

13182..27063

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001163673.2 → NP_001157145.1 WD repeat-containing protein 81 isoform 3

See identical proteins and their annotated locations for NP_001157145.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC130343, AI168277, AK298567

Consensus CDS

CCDS54061.1

UniProtKB/Swiss-Prot

Q562E7

Related

ENSP00000391074.2, ENST00000437219.6

Conserved Domains (3) summary

COG2319
Location:428 → 736

WD40; WD40 repeat [General function prediction only]

sd00039
Location:449 → 492

7WD40; WD40 repeat [structural motif]

cl02567
Location:438 → 652

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001163809.2 → NP_001157281.1 WD repeat-containing protein 81 isoform 1

See identical proteins and their annotated locations for NP_001157281.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC130343, AK122972, AK123896, BC114519

Consensus CDS

CCDS54062.1

UniProtKB/Swiss-Prot

B3KW16, B3KXU1, B7Z579, E9PHG7, Q24JP6, Q562E7, Q8N277, Q8N3F3, Q8TEL1

UniProtKB/TrEMBL

A0A0J9YXM6

Related

ENSP00000386609.1, ENST00000409644.6

Conserved Domains (4) summary

cd06071
Location:351 → 591

Beach; BEACH (Beige and Chediak-Higashi) domains, implicated in membrane trafficking, are present in a family of proteins conserved throughout eukaryotes. This group contains human lysosomal trafficking regulator (LYST), LPS-responsive and beige-like anchor ...

COG2319
Location:1631 → 1939

WD40; WD40 repeat [General function prediction only]

sd00039
Location:1652 → 1695

7WD40; WD40 repeat [structural motif]

cl02567
Location:1641 → 1855

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001163811.2 → NP_001157283.1 WD repeat-containing protein 81 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK123896, AK127946, BC114519

Consensus CDS

CCDS54063.1

UniProtKB/TrEMBL

E9PDG3

Related

ENSP00000407845.1, ENST00000419248.5

Conserved Domains (3) summary

COG2319
Location:404 → 712

WD40; WD40 repeat [General function prediction only]

sd00039
Location:425 → 468

7WD40; WD40 repeat [structural motif]

cl02567
Location:414 → 628

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_152348.4 → NP_689561.2 WD repeat-containing protein 81 isoform 2

See identical proteins and their annotated locations for NP_689561.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AI168277, AK091136, AK298567, AL834379

UniProtKB/Swiss-Prot

Q562E7

Related

ENSP00000312074.5, ENST00000309182.9

Conserved Domains (3) summary

COG2319
Location:588 → 888

WD40; WD40 repeat [General function prediction only]

sd00039
Location:601 → 644

7WD40; WD40 repeat [structural motif]

cl02567
Location:590 → 804

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

1716523..1738585

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024184.2 → XP_016879673.1 WD repeat-containing protein 81 isoform X1

UniProtKB/TrEMBL

A0A0J9YXM6
XM_011523651.3 → XP_011521953.1 WD repeat-containing protein 81 isoform X4

See identical proteins and their annotated locations for XP_011521953.1

UniProtKB/Swiss-Prot

Q562E7

Related

ENST00000464528.5

Conserved Domains (3) summary

COG2319
Location:588 → 888

WD40; WD40 repeat [General function prediction only]

sd00039
Location:601 → 644

7WD40; WD40 repeat [structural motif]

cl02567
Location:590 → 804

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_047435340.1 → XP_047291296.1 WD repeat-containing protein 81 isoform X2
XM_047435341.1 → XP_047291297.1 WD repeat-containing protein 81 isoform X3