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    WDR53 WD repeat domain 53 [ Homo sapiens (human) ]

    Gene ID: 348793, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR53provided by HGNC
    Official Full Name
    WD repeat domain 53provided by HGNC
    Primary source
    HGNC:HGNC:28786
    See related
    Ensembl:ENSG00000185798 MIM:615110; AllianceGenome:HGNC:28786
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 24.6), lymph node (RPKM 4.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR53 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196554177..196568554, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199273436..199287838, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196281048..196295425, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15066 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:196260004-196260617 Neighboring gene NAA50 pseudogene 2 Neighboring gene ribosomal protein S29 pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:196289997-196291196 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:196293567-196294766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15067 Neighboring gene Sharpr-MPRA regulatory region 4041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:196296784-196297332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:196297333-196297880 Neighboring gene F-box protein 45 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196359126-196359880 Neighboring gene long intergenic non-protein coding RNA 1063

    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. CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation. Higa LA, et al. Nat Cell Biol, 2006 Nov. PMID 17041588
    2. The E3 ubiquitin ligase APC/C(C)(dh1) degrades MCPH1 after MCPH1-βTrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis. Liu X, et al. EMBO J, 2017 Dec 15. PMID 29150431, Free PMC Article
    3. Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications. Salguero AL, et al. ACS Chem Biol, 2022 Jan 21. PMID 34941261, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4-Associated Factors, Cellular Functions, and Protein Substrates. Raisch J, et al. Mol Cell Proteomics, 2023 Oct. PMID 37689310, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12928, MGC64882

    General protein information

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    Preferred Names
    WD repeat-containing protein 53
    Names
    WD domain, G-beta repeat-containing protein

    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.

    mRNA and Protein(s)

    1. NM_001345906.2 → NP_001332835.1  WD repeat-containing protein 53 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) as well as variants 1 and 3-6 all encode the same isoform (a).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS3318.1
      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
      Conserved Domains (2) summary
      sd00039
      Location:55 → 92
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:8 → 269
      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_001345907.2 → NP_001332836.1  WD repeat-containing protein 53 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) as well as variants 1-2 and 4-6 all encode the same isoform (a).
      Source sequence(s)
      AC092933
      Consensus CDS
      CCDS3318.1
      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
      Conserved Domains (2) summary
      sd00039
      Location:55 → 92
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:8 → 269
      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_001345908.2 → NP_001332837.1  WD repeat-containing protein 53 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) as well as variants 1-3 and 5-6 all encode the same isoform (a).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS3318.1
      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
      Conserved Domains (2) summary
      sd00039
      Location:55 → 92
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:8 → 269
      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_001345909.2 → NP_001332838.1  WD repeat-containing protein 53 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) as well as variants 1-4 and 6 all encode the same isoform (a).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS3318.1
      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
      Conserved Domains (2) summary
      sd00039
      Location:55 → 92
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:8 → 269
      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 ...

    5. NM_001345910.2 → NP_001332839.1  WD repeat-containing protein 53 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) as well as variants 1-5 all encode the same isoform (a).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS3318.1
      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
      Conserved Domains (2) summary
      sd00039
      Location:55 → 92
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:8 → 269
      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 ...

    6. NM_001345911.2 → NP_001332840.1  WD repeat-containing protein 53 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes isoform b.
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS87187.1
      UniProtKB/TrEMBL
      C9JBE7
      Related
      ENSP00000410677.1, ENST00000433160.1

    7. NM_001345912.2 → NP_001332841.1  WD repeat-containing protein 53 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) as well as variants 9-11 all encode the same isoform (c).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS87186.1
      UniProtKB/TrEMBL
      C9JJZ8

    8. NM_001345913.2 → NP_001332842.1  WD repeat-containing protein 53 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) as well as variants 8 and 10-11 all encode the same isoform (c).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS87186.1
      UniProtKB/TrEMBL
      C9JJZ8

    9. NM_001345914.2 → NP_001332843.1  WD repeat-containing protein 53 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) as well as variants 8-9 and 11 all encode the same isoform (c).
      Source sequence(s)
      AC092933, KF457729
      Consensus CDS
      CCDS87186.1
      UniProtKB/TrEMBL
      C9JJZ8

    10. NM_001345915.2 → NP_001332844.1  WD repeat-containing protein 53 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) as well as variants 8-10 all encode the same isoform (c).
      Source sequence(s)
      AC092933
      Consensus CDS
      CCDS87186.1
      UniProtKB/TrEMBL
      C9JJZ8
      Related
      ENSP00000396668.1, ENST00000429115.1

    11. NM_001345917.2 → NP_001332846.1  WD repeat-containing protein 53 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) as well as variant 13 both encode the same isoform (d).
      Source sequence(s)
      AC092933, KF457729
      UniProtKB/TrEMBL
      C9JQN1
      Related
      ENSP00000408087.1, ENST00000456677.1

    12. NM_001345918.2 → NP_001332847.1  WD repeat-containing protein 53 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) as well as variant 12 both encode the same isoform (d).
      Source sequence(s)
      AC092933, KF457729
      UniProtKB/TrEMBL
      C9JQN1
      Related
      ENSP00000396248.1, ENST00000425888.1

    13. NM_182627.3 → NP_872433.1  WD repeat-containing protein 53 isoform a

      See identical proteins and their annotated locations for NP_872433.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AI803796, BC054030, BU186444
      Consensus CDS
      CCDS3318.1
      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
      Related
      ENSP00000328079.5, ENST00000332629.7
      Conserved Domains (2) summary
      sd00039
      Location:55 → 92
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:8 → 269
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196554177..196568554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448080.1 → XP_047304036.1  WD repeat-containing protein 53 isoform X2

      UniProtKB/TrEMBL
      C9JJZ8

    2. XM_047448079.1 → XP_047304035.1  WD repeat-containing protein 53 isoform X1

      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199273436..199287838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346439.1 → XP_054202414.1  WD repeat-containing protein 53 isoform X2

      UniProtKB/TrEMBL
      C9JJZ8

    2. XM_054346438.1 → XP_054202413.1  WD repeat-containing protein 53 isoform X1

      UniProtKB/Swiss-Prot
      A0MNP1, Q7Z5U6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5U6.1 GenPept UniProtKB/Swiss-Prot:Q7Z5U6

    Gene LinkOut

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

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