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

Gene ID: 124997, updated on 17-Jun-2019

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
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; 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

Genomic context

See WDR81 in Genome Data Viewer
Location:
17p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (1716523..1738599)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1619817..1641893)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TLC domain containing 2 Neighboring gene MIR22 host gene Neighboring gene microRNA 22 Neighboring gene serpin family F member 2 Neighboring gene serpin family F member 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
MedGen: C2750234 OMIM: 610185 GeneReviews: Not available
Compare labs
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
MedGen: CN252328 OMIM: 617967 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23776, FLJ33817

Gene Ontology Provided by GOA

Function Evidence Code Pubs
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol 3-kinase regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aggrephagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
early endosome to late endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phosphatidylinositol 3-kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
NOT Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
autophagosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
NOT endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_032811.1 RefSeqGene

    Range
    5001..27077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163673.1NP_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:428736
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:449492
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:438652
    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 ...
  2. NM_001163809.1NP_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, AI168277, AI916244, AK122972, AK123896, BC114519
    Consensus CDS
    CCDS54062.1
    UniProtKB/Swiss-Prot
    Q562E7
    UniProtKB/TrEMBL
    Q24JR4
    Related
    ENSP00000386609.1, ENST00000409644.5
    Conserved Domains (4) summary
    cd06071
    Location:351591
    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:16311939
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:16521695
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:16411855
    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 ...
  3. NM_001163811.2NP_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/Swiss-Prot
    Q562E7
    UniProtKB/TrEMBL
    Q24JR4
    Related
    ENSP00000407845.1, ENST00000419248.5
    Conserved Domains (3) summary
    COG2319
    Location:404712
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:425468
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:414628
    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 ...
  4. NM_152348.4NP_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:588888
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:601644
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:590804
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    1716523..1738599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523651.2XP_011521953.1  WD repeat-containing protein 81 isoform X2

    See identical proteins and their annotated locations for XP_011521953.1

    UniProtKB/Swiss-Prot
    Q562E7
    Conserved Domains (3) summary
    COG2319
    Location:588888
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:601644
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:590804
    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 ...
  2. XM_017024184.1XP_016879673.1  WD repeat-containing protein 81 isoform X1

RNA

  1. XR_001752427.1 RNA Sequence

  2. XR_933973.2 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    146551..168638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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