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

Gene ID: 64743, updated on 5-Mar-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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Location:
Xp11.23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48597492..48608869)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48006491..48017871)
105.20220307 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 (25) 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)

Genotypes

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

Function Evidence Code Pubs
enables promoter-specific chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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