U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 124997, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See WDR81 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene TLC domain containing 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1619651-1620292 Neighboring gene MIR22 host gene Neighboring gene microRNA 22 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1627561-1628061 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1638655-1639172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1639173-1639688 Neighboring gene Sharpr-MPRA regulatory region 4635 Neighboring gene serpin family F member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1655564-1656124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1665693-1666545 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1666546-1667398 Neighboring gene serpin family F member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11457

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    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

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ23776, FLJ33817

    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

    Go to the top of the page Help
    Preferred Names
    WD repeat-containing protein 81
    Names
    protein phosphatase 1, regulatory subunit 166

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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
      13182..27063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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 ...

    2. 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 ...

    3. 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 ...

    4. 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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      1716523..1738585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A0J9YXM6

    2. 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 ...

    3. XM_047435340.1 → XP_047291296.1  WD repeat-containing protein 81 isoform X2

    4. XM_047435341.1 → XP_047291297.1  WD repeat-containing protein 81 isoform X3

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      146551..168624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329198.1 → XP_054185173.1  WD repeat-containing protein 81 isoform X2

    2. XM_054329199.1 → XP_054185174.1  WD repeat-containing protein 81 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      1605452..1627518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315048.1 → XP_054171023.1  WD repeat-containing protein 81 isoform X4

    2. XM_054315045.1 → XP_054171020.1  WD repeat-containing protein 81 isoform X1

    3. XM_054315046.1 → XP_054171021.1  WD repeat-containing protein 81 isoform X2

    4. XM_054315047.1 → XP_054171022.1  WD repeat-containing protein 81 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q562E7.2 GenPept UniProtKB/Swiss-Prot:Q562E7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous