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 1-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WDR81 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1716523..1738585)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1605452..1627518)
    105.20220307 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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

    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

    Clone Names

    • FLJ23776, FLJ33817

    Gene Ontology Provided by GOA

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001163673.2NP_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_001163809.2NP_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: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/TrEMBL
      E9PDG3
      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: GCF_000001405.40-RS_2023_10

    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_017024184.2XP_016879673.1  WD repeat-containing protein 81 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YXM6
    2. XM_011523651.3XP_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: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 ...
    3. XM_047435340.1XP_047291296.1  WD repeat-containing protein 81 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YXM6
    4. XM_047435341.1XP_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_054329198.1XP_054185173.1  WD repeat-containing protein 81 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YXM6
    2. XM_054329199.1XP_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_054315048.1XP_054171023.1  WD repeat-containing protein 81 isoform X4

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

      UniProtKB/TrEMBL
      A0A0J9YXM6
    3. XM_054315046.1XP_054171021.1  WD repeat-containing protein 81 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YXM6
    4. XM_054315047.1XP_054171022.1  WD repeat-containing protein 81 isoform X3