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    WDR73 WD repeat domain 73 [ Homo sapiens (human) ]

    Gene ID: 84942, updated on 5-Mar-2024

    Summary

    Official Symbol
    WDR73provided by HGNC
    Official Full Name
    WD repeat domain 73provided by HGNC
    Primary source
    HGNC:HGNC:25928
    See related
    Ensembl:ENSG00000177082 MIM:616144; AllianceGenome:HGNC:25928
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAMOS; GAMOS1; HSPC264
    Summary
    The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.8), prostate (RPKM 5.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See WDR73 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84639285..84654283, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82391705..82406696, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85182516..85197514, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6768 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85146655-85147283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85152722-85153247 Neighboring gene zinc finger and SCAN domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6770 Neighboring gene SCAN domain containing 2 pseudogene Neighboring gene egl-9 family hypoxia inducible factor 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85196867-85197834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6771 Neighboring gene neuromedin B Neighboring gene SEC11 homolog A, signal peptidase complex subunit Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85229719-85230218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85259023-85259588

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Galloway-Mowat syndrome 1
    MedGen: C4551772 OMIM: 251300 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14888

    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 cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytoplasmic microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    WD repeat-containing protein 73
    Names
    FLJ00296 protein

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_042034.2 RefSeqGene

      Range
      5000..19998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032856.5NP_116245.2  WD repeat-containing protein 73

      See identical proteins and their annotated locations for NP_116245.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AC048382
      Consensus CDS
      CCDS45339.1
      UniProtKB/Swiss-Prot
      Q6P4I2, Q96JZ1, Q9P0B7
      UniProtKB/TrEMBL
      Q6PJL8
      Related
      ENSP00000387982.3, ENST00000434634.7
      Conserved Domains (2) summary
      COG2319
      Location:238370
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:279329
      7WD40; WD40 repeat [structural motif]

    RNA

    1. NR_130944.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC048382, AK055578, AK225068, BC014115, BC050648, BM050710, BM875282, CX867053
    2. NR_130945.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC048382, AK225068, BC014115, BC050648, BM050710, BM875282, BX446522, CN481562, CX867053
    3. NR_130946.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in its 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC048382, BC014115, BC050648, BM050710, BM875282, CX867053
    4. NR_130947.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC048382, AK225068, BC014115, BC050648, BM050710, BM875282, CD514627, CX867053

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      84639285..84654283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791797.1 Reference GRCh38.p14 PATCHES

      Range
      1131131..1146129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      82391705..82406696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)