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

Gene ID: 348793, updated on 5-Mar-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
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Genomic context

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Location:
3q29
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196554177..196568554, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199273436..199287838, complement)
105.20220307 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (9) 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)

Genotypes

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_2023_10

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

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