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

Gene ID: 348793, updated on 3-Mar-2026
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
all
Try the new Gene page
Try the new Transcripts and proteins table
See WDR53 in Genome Data Viewer
Location:
3q29
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196554177..196568554, complement)
RS_2025_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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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

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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC12928, MGC64882
Preferred Names
WD repeat-containing protein 53
Names
WD domain, G-beta repeat-containing protein

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.

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
    Related
    ENSP00000563471.1, ENST00000893412.1
    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
    Related
    ENSP00000563462.1, ENST00000893403.1
    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
    Related
    ENSP00000563463.1, ENST00000893404.1
    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
    Related
    ENSP00000602760.1, ENST00000932701.1
    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
    Related
    ENSP00000563470.1, ENST00000893411.1
    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_2025_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
    Related
    ENSP00000563473.1, ENST00000893414.1

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

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