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

Gene ID: 348793, updated on 12-Oct-2019

Summary

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
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

Genomic context

See WDR53 in Genome Data Viewer
Location:
3q29
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (196554177..196568674, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196281024..196295627, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374307 Neighboring gene single-pass membrane protein with coiled-coil domains 1 Neighboring gene ribosomal protein S29 pseudogene 3 Neighboring gene F-box protein 45 Neighboring gene long intergenic non-protein coding RNA 1063 Neighboring gene negative regulator of reactive oxygen species

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12928, MGC64882

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001345906.1NP_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
    Q7Z5U6
    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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_001345907.1NP_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
    Q7Z5U6
    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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_001345908.1NP_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
    Q7Z5U6
    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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_001345909.1NP_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
    Q7Z5U6
    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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_001345910.1NP_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
    Q7Z5U6
    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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_001345911.1NP_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_001345912.1NP_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_001345913.1NP_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_001345914.1NP_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_001345915.1NP_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_001345917.2NP_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
    Related
    ENSP00000408087.1, ENST00000456677.1
  12. NM_001345918.2NP_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
    Related
    ENSP00000396248.1, ENST00000425888.1
  13. NM_182627.3NP_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
    Q7Z5U6
    Related
    ENSP00000328079.5, ENST00000332629.7
    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    196554177..196568674 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453509.1XP_024309277.1  WD repeat-containing protein 53 isoform X1

    Conserved Domains (2) summary
    sd00039
    Location:5592
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8269
    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 ...
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