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    WDR55 WD repeat domain 55 [ Homo sapiens (human) ]

    Gene ID: 54853, updated on 21-May-2024

    Summary

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    Official Symbol
    WDR55provided by HGNC
    Official Full Name
    WD repeat domain 55provided by HGNC
    Primary source
    HGNC:HGNC:25971
    See related
    Ensembl:ENSG00000120314 MIM:620832; AllianceGenome:HGNC:25971
    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
    Predicted to be involved in rRNA processing. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in appendix (RPKM 5.7), colon (RPKM 5.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR55 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140664904..140672345)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141190300..141197742)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140044489..140051930)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene transmembrane and coiled-coil domains 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:140026953-140027488 Neighboring gene NADH:ubiquinone oxidoreductase subunit A2 Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene uncharacterized LOC124901088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140043900-140044566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140052035-140052830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140052831-140053626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23284 Neighboring gene DND microRNA-mediated repression inhibitor 1 Neighboring gene histidyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23285 Neighboring gene HARS1 and HARS2 bidirectional promoter region Neighboring gene histidyl-tRNA synthetase 2, mitochondrial

    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. WDR55 is a nucleolar modulator of ribosomal RNA synthesis, cell cycle progression, and teleost organ development. Iwanami N, et al. PLoS Genet, 2008 Aug 29. PMID 18769712, Free PMC Article
    2. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. Shiffman D, et al. Arterioscler Thromb Vasc Biol, 2008 Jan. PMID 17975119, Free PMC Article
    3. Gene variants associated with ischemic stroke: the cardiovascular health study. Luke MM, et al. Stroke, 2009 Feb. PMID 19023099, Free PMC Article
    4. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    5. A bead-based approach for large-scale identification of in vitro kinase substrates. Zhang M, et al. Proteomics, 2011 Dec. PMID 22113938

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
    Submit: New GeneRIF Correction

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20195, FLJ21702

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in rRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 55

    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_017706.5 → NP_060176.3  WD repeat-containing protein 55

      Status: VALIDATED

      Source sequence(s)
      AC116353
      Consensus CDS
      CCDS4235.1
      UniProtKB/Swiss-Prot
      Q9H6Y2, Q9NXK4
      Related
      ENSP00000351100.5, ENST00000358337.10
      Conserved Domains (3) summary
      COG2319
      Location:40 → 123
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:42 → 81
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:83 → 324
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140664904..140672345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009600.3 → XP_016865089.1  WD repeat-containing protein 55 isoform X2

      UniProtKB/TrEMBL
      G3V1J0
      Related
      ENSP00000439719.1, ENST00000504897.2
      Conserved Domains (3) summary
      COG2319
      Location:3 → 171
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:10 → 47
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:6 → 169
      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. XM_005268469.4 → XP_005268526.1  WD repeat-containing protein 55 isoform X1

      See identical proteins and their annotated locations for XP_005268526.1

      UniProtKB/Swiss-Prot
      Q9H6Y2, Q9NXK4
      Conserved Domains (3) summary
      COG2319
      Location:40 → 123
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:42 → 81
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:83 → 324
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      141190300..141197742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352867.1 → XP_054208842.1  WD repeat-containing protein 55 isoform X2

    2. XM_054352866.1 → XP_054208841.1  WD repeat-containing protein 55 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6Y2.2 GenPept UniProtKB/Swiss-Prot:Q9H6Y2

    Gene LinkOut

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

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