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

    Gene ID: 348793, updated on 15-Jun-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 current GRCh38.p12 (GCF_000001405.38) 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

    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

    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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