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    WDR74 WD repeat domain 74 [ Homo sapiens (human) ]

    Gene ID: 54663, updated on 14-Nov-2024

    Summary

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    Official Symbol
    WDR74provided by HGNC
    Official Full Name
    WD repeat domain 74provided by HGNC
    Primary source
    HGNC:HGNC:25529
    See related
    Ensembl:ENSG00000133316 MIM:617947; AllianceGenome:HGNC:25529
    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
    Also known as
    Nsa1
    Summary
    Involved in rRNA processing and ribosomal large subunit biogenesis. Located in nuclear exosome (RNase complex); nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.1), ovary (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR74 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62832905..62841809, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62822302..62831206, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62600377..62609281, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene syntaxin 5 Neighboring gene RNA, U6 small nuclear 118, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4854 Neighboring gene STX5 divergent transcript Neighboring gene testis expressed 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3432 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62608631-62609244 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62609245-62609858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62609859-62610472 Neighboring gene RNA, U2 small nuclear 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4862 Neighboring gene small nucleolar RNA, C/D box 22 Neighboring gene small nucleolar RNA host gene 1 Neighboring gene small nucleolar RNA, C/D box 31

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WDR74 serves as a novel therapeutic target by its oncogenic role in hepatocellular carcinoma.
      Title: WDR74 serves as a novel therapeutic target by its oncogenic role in hepatocellular carcinoma.
    2. WDR74 rs11231247 contributes to the susceptibility and prognosis of non-small cell lung cancer.
      Title: WDR74 rs11231247 contributes to the susceptibility and prognosis of non-small cell lung cancer.
    3. WDR74 modulates melanoma tumorigenesis and metastasis through the RPL5-MDM2-p53 pathway.
      Title: WDR74 modulates melanoma tumorigenesis and metastasis through the RPL5-MDM2-p53 pathway.
    4. WDR74 induces nuclear beta-catenin accumulation and activates Wnt-responsive genes to promote lung cancer growth and metastasis.
      Title: WDR74 induces nuclear β-catenin accumulation and activates Wnt-responsive genes to promote lung cancer growth and metastasis.
    5. Through direct interactions with Smad proteins, WDR74 enhances TGF-beta-mediated phosphorylation and nuclear accumulation of Smad2 and Smad3.
      Title: WDR74 functions as a novel coactivator in TGF-β signaling.
    6. knockdown of WDR74 leads to significant defects in the pre-rRNA cleavage within the internal transcribed spacer 1, occurring in an early stage of the processing pathway. When the dissociation of WDR74 from the MTR4-containing exonuclease complex was impaired upon expression of mutant NVL2, the same processing defect, with partial migration of WDR74 from the nucleolus towards the nucleoplasm, was observed.
      Title: WDR74 participates in an early cleavage of the pre-rRNA processing pathway in cooperation with the nucleolar AAA-ATPase NVL2.
    7. results suggest that WDR74 is a novel regulatory protein of the MTR4-exsosome complex whose interaction is regulated by NVL2 and is involved in ribosome biogenesis
      Title: AAA-ATPase NVL2 acts on MTR4-exosome complex to dissociate the nucleolar protein WDR74.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10439, FLJ21730

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in blastocyst formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosomal large subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal large subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of nuclear exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 74
    Names
    NOP seven-associated protein 1

    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_001307977.1 → NP_001294906.1  WD repeat-containing protein 74 isoform 2

      See identical proteins and their annotated locations for NP_001294906.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK001301, BC006351, BU740579
      Consensus CDS
      CCDS76421.1
      UniProtKB/TrEMBL
      E9PS41
      Related
      ENSP00000308931.7, ENST00000311713.11
      Conserved Domains (2) summary
      sd00039
      Location:45 → 85
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:45 → 302
      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_001369447.1 → NP_001356376.1  WD repeat-containing protein 74 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP001160
      UniProtKB/TrEMBL
      E9PS41
      Conserved Domains (2) summary
      sd00039
      Location:45 → 85
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:45 → 316
      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_001369448.1 → NP_001356377.1  WD repeat-containing protein 74 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Conserved Domains (2) summary
      sd00039
      Location:52 → 90
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:7 → 167
      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_001369449.1 → NP_001356378.1  WD repeat-containing protein 74 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Conserved Domains (2) summary
      sd00039
      Location:52 → 90
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:7 → 167
      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_001369450.1 → NP_001356379.1  WD repeat-containing protein 74 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Consensus CDS
      CCDS44630.1
      UniProtKB/Swiss-Prot
      A8K8G5, Q6RFH5, Q9BRC9, Q9H6X8, Q9NVY2
      UniProtKB/TrEMBL
      E9PS41
      Related
      ENSP00000278856.4, ENST00000278856.9
      Conserved Domains (2) summary
      sd00039
      Location:45 → 85
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:45 → 302
      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_001369451.1 → NP_001356380.1  WD repeat-containing protein 74 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Consensus CDS
      CCDS44630.1
      UniProtKB/Swiss-Prot
      A8K8G5, Q6RFH5, Q9BRC9, Q9H6X8, Q9NVY2
      UniProtKB/TrEMBL
      E9PS41
      Related
      ENSP00000432119.1, ENST00000525239.5
      Conserved Domains (2) summary
      sd00039
      Location:45 → 85
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:45 → 302
      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 ...

    7. NM_001369453.1 → NP_001356382.1  WD repeat-containing protein 74 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP001160
      Consensus CDS
      CCDS44630.1
      UniProtKB/Swiss-Prot
      A8K8G5, Q6RFH5, Q9BRC9, Q9H6X8, Q9NVY2
      UniProtKB/TrEMBL
      E9PS41
      Related
      ENSP00000432113.1, ENST00000525752.5
      Conserved Domains (2) summary
      sd00039
      Location:45 → 85
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:45 → 302
      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 ...

    8. NM_018093.3 → NP_060563.2  WD repeat-containing protein 74 isoform 1

      See identical proteins and their annotated locations for NP_060563.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK001301, AY500828, BC006351, BU740579
      Consensus CDS
      CCDS44630.1
      UniProtKB/Swiss-Prot
      A8K8G5, Q6RFH5, Q9BRC9, Q9H6X8, Q9NVY2
      UniProtKB/TrEMBL
      E9PS41
      Related
      ENSP00000435726.1, ENST00000529106.5
      Conserved Domains (2) summary
      sd00039
      Location:45 → 85
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:45 → 302
      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 ...

    RNA

    1. NR_161381.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP001160

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62832905..62841809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62822302..62831206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6RFH5.1 GenPept UniProtKB/Swiss-Prot:Q6RFH5

    Gene LinkOut

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

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