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    WDR13 WD repeat domain 13 [ Homo sapiens (human) ]

    Gene ID: 64743, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR13provided by HGNC
    Official Full Name
    WD repeat domain 13provided by HGNC
    Primary source
    HGNC:HGNC:14352
    See related
    Ensembl:ENSG00000101940 MIM:300512; AllianceGenome:HGNC:14352
    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
    MG21
    Summary
    This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016]
    Expression
    Ubiquitous expression in ovary (RPKM 22.5), kidney (RPKM 22.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR13 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48597492..48608869)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48006491..48017871)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48455880..48467257)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 4 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48436957-48437166 Neighboring gene RNA binding motif protein 3 Neighboring gene MRPL32 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29606 Neighboring gene Sharpr-MPRA regulatory region 1547 Neighboring gene uncharacterized LOC107985695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29607 Neighboring gene vomeronasal 1 receptor 110 pseudogene Neighboring gene uncharacterized LOC124905186 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:48506792-48507454

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability. Rzońca-Niewczas S, et al. Genes (Basel), 2021 Nov 28. PMID 34946860, Free PMC Article
    2. A highly conserved human gene encoding a novel member of WD-repeat family of proteins (WDR13). Singh BN, et al. Genomics, 2003 Mar. PMID 12659815
    3. The dependence receptor TrkC triggers mitochondria-dependent apoptosis upon Cobra-1 recruitment. Ichim G, et al. Mol Cell, 2013 Sep 12. PMID 24034695
    4. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
    5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
      Title: WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20563, DKFZp779C2057

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of type B pancreatic cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 13

    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

    1. NG_015879.2 RefSeqGene

      Range
      12461..23838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166426.3 → NP_001159898.1  WD repeat-containing protein 13 isoform 2

      See identical proteins and their annotated locations for NP_001159898.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains different sequence for part of its 5' UTR which results in translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1. Variants 2 and 5 encode the same isoform.
      Source sequence(s)
      AC115618, AF158978, BC080579, DQ907253
      UniProtKB/TrEMBL
      Q06DW9
      Conserved Domains (2) summary
      sd00039
      Location:129 → 166
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:83 → 389
      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_001347217.2 → NP_001334146.1  WD repeat-containing protein 13 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AC115618, DQ907253, KF459106
      Consensus CDS
      CCDS14302.1
      UniProtKB/Swiss-Prot
      Q06DW8, Q06DX0, Q06DX1, Q9BUL7, Q9H1Z4, Q9NWW4
      UniProtKB/TrEMBL
      B2RBN3
      Related
      ENSP00000365919.5, ENST00000376729.10
      Conserved Domains (2) summary
      sd00039
      Location:221 → 258
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:175 → 481
      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_001347219.2 → NP_001334148.1  WD repeat-containing protein 13 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 2 and 5 encode the same isoform (2).
      Source sequence(s)
      AC115618, DQ907253, KF459106
      UniProtKB/TrEMBL
      Q06DW9
      Conserved Domains (2) summary
      sd00039
      Location:129 → 166
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:83 → 389
      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_017883.6 → NP_060353.2  WD repeat-containing protein 13 isoform 1

      See identical proteins and their annotated locations for NP_060353.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1). Variants 1 and 4 encode the same isoform.
      Source sequence(s)
      AC115618, AF329819, BC080579, BI554303, DQ907253
      Consensus CDS
      CCDS14302.1
      UniProtKB/Swiss-Prot
      Q06DW8, Q06DX0, Q06DX1, Q9BUL7, Q9H1Z4, Q9NWW4
      UniProtKB/TrEMBL
      B2RBN3
      Related
      ENSP00000218056.5, ENST00000218056.9
      Conserved Domains (2) summary
      sd00039
      Location:221 → 258
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:175 → 481
      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 ...

    RNA

    1. NR_029427.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC115618, AF329819, BC067094, BI554303, DQ907253

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48597492..48608869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48006491..48017871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1Z4.3 GenPept UniProtKB/Swiss-Prot:Q9H1Z4

    Gene LinkOut

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

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