Aliases for WDR74 Gene

Aliases for WDR74 Gene

  • WD Repeat Domain 74 2 3 5
  • WD Repeat-Containing Protein 74 3 4
  • NOP Seven-Associated Protein 1 3 4
  • Nsa1 2 3
  • FLJ10439 2
  • WDR74 5
  • NSA1 4

External Ids for WDR74 Gene

Previous GeneCards Identifiers for WDR74 Gene

  • GC11M062357
  • GC11M062600
  • GC11M058929

Summaries for WDR74 Gene

GeneCards Summary for WDR74 Gene

WDR74 (WD Repeat Domain 74) is a Protein Coding gene. Diseases associated with WDR74 include Lateral Ventricle Meningioma and Intraventricular Meningioma.

UniProtKB/Swiss-Prot Summary for WDR74 Gene

  • Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit (PubMed:26456651). Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL (PubMed:29107693). Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR74 Gene

Genomics for WDR74 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WDR74 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR74 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR74

Top Transcription factor binding sites by QIAGEN in the WDR74 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for WDR74 Gene

Latest Assembly
chr11:62,832,342-62,841,809
(GRCh38/hg38)
Size:
9,468 bases
Orientation:
Minus strand

Previous Assembly
chr11:62,600,377-62,609,281
(GRCh37/hg19 by Entrez Gene)
Size:
8,905 bases
Orientation:
Minus strand

chr11:62,599,814-62,609,281
(GRCh37/hg19 by Ensembl)
Size:
9,468 bases
Orientation:
Minus strand

Genomic View for WDR74 Gene

Genes around WDR74 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR74 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR74 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR74 Gene

Proteins for WDR74 Gene

  • Protein details for WDR74 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6RFH5-WDR74_HUMAN
    Recommended name:
    WD repeat-containing protein 74
    Protein Accession:
    Q6RFH5
    Secondary Accessions:
    • A8K8G5
    • Q9BRC9
    • Q9H6X8
    • Q9NVY2

    Protein attributes for WDR74 Gene

    Size:
    385 amino acids
    Molecular mass:
    42441 Da
    Quaternary structure:
    • Isoform 1 interacts (through WDR repeats) with NVL; the interaction is independent of RNA or pre-60S ribosome particles. Isoform 2 does not interact with NVL (PubMed:28416111). Interacts with MTREX; the interaction dissociation in a late stage of rRNA synthesis is required for appropriate maturation of pre-60S particles and depends on the ATPase activity of NVL (PubMed:26456651, PubMed:29107693).

    Alternative splice isoforms for WDR74 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR74 Gene

Post-translational modifications for WDR74 Gene

  • Ubiquitination at Lys68, Lys151, Lys156, Lys197, Lys266, Lys281, Lys311, and Lys359
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR74 Gene

Domains & Families for WDR74 Gene

Gene Families for WDR74 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for WDR74 Gene

Suggested Antigen Peptide Sequences for WDR74 Gene

GenScript: Design optimal peptide antigens:
  • NOP seven-associated protein 1 (WDR74_HUMAN)
genes like me logo Genes that share domains with WDR74: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WDR74 Gene

Function for WDR74 Gene

Molecular function for WDR74 Gene

UniProtKB/Swiss-Prot Function:
Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit (PubMed:26456651). Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL (PubMed:29107693). Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity).

Phenotypes From GWAS Catalog for WDR74 Gene

Gene Ontology (GO) - Molecular Function for WDR74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25416956
genes like me logo Genes that share ontologies with WDR74: view
genes like me logo Genes that share phenotypes with WDR74: view

miRNA for WDR74 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR74

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR74 Gene

Localization for WDR74 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR74 Gene

Nucleus, nucleolus. Nucleus. Note=Nucleolar location depends on active PolI transcription of pre-rRNA. {ECO:0000269 PubMed:28416111}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR74 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 colocalizes_with nuclear exosome (RNase complex) IDA 26456651
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA,IMP 29107693
GO:0030687 preribosome, large subunit precursor IBA 21873635
genes like me logo Genes that share ontologies with WDR74: view

Pathways & Interactions for WDR74 Gene

PathCards logo

SuperPathways for WDR74 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA,ISS --
GO:0006364 rRNA processing IMP 29107693
GO:0016070 RNA metabolic process IEA,ISS --
GO:0042273 ribosomal large subunit biogenesis IEA,IMP 26456651
genes like me logo Genes that share ontologies with WDR74: view

No data available for Pathways by source and SIGNOR curated interactions for WDR74 Gene

Drugs & Compounds for WDR74 Gene

No Compound Related Data Available

Transcripts for WDR74 Gene

mRNA/cDNA for WDR74 Gene

8 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR74

Alternative Splicing Database (ASD) splice patterns (SP) for WDR74 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: -
SP6:
SP7:
SP8: -

Relevant External Links for WDR74 Gene

GeneLoc Exon Structure for
WDR74

Expression for WDR74 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR74 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WDR74 Gene

This gene is overexpressed in Lung (30.3), Peripheral blood mononuclear cells (10.6), CD8 Tcells (8.1), and Blymphocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR74 Gene



Protein tissue co-expression partners for WDR74 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR74

SOURCE GeneReport for Unigene cluster for WDR74 Gene:

Hs.654620

Evidence on tissue expression from TISSUES for WDR74 Gene

  • Liver(4.4)
  • Muscle(4.3)
  • Nervous system(2.5)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with WDR74: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR74 Gene

Orthologs for WDR74 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WDR74 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia WDR74 30 31
  • 89.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WDR74 30 31
  • 89.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Wdr74 30 17 31
  • 86.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wdr74 30
  • 85.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia WDR74 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WDR74 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves WDR74 30 31
  • 63.04 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wdr74 30
  • 58.22 (n)
Str.10972 30
Zebrafish
(Danio rerio)
Actinopterygii wdr74 30 31
  • 58.67 (n)
OneToOne
Dr.17925 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8665 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7845 31
  • 25 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_T06E6.1 30
  • 48.06 (n)
T06E6.1 31
  • 28 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSA1 33
Species where no ortholog for WDR74 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for WDR74 Gene

ENSEMBL:
Gene Tree for WDR74 (if available)
TreeFam:
Gene Tree for WDR74 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR74: view image

Paralogs for WDR74 Gene

No data available for Paralogs for WDR74 Gene

Variants for WDR74 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR74 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs114810174 Benign: not provided 62,839,550(-) G/C
NM_018093.3(WDR74):c.21C>G (p.Arg7=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs115081668 Benign: not provided 62,833,013(-) G/A
NM_018093.3(WDR74):c.1097C>T (p.Pro366Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs199550021 Benign: not provided 62,839,235(-) T/C
NM_018093.3(WDR74):c.172A>G (p.Met58Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
rs74789950 Benign: not provided 62,839,435(-) G/A
NM_018093.3(WDR74):c.65-7C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for WDR74 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for WDR74 Gene

Variant ID Type Subtype PubMed ID
esv991674 OTHER inversion 20482838
nsv1122629 CNV deletion 24896259
nsv1159903 CNV duplication 26073780
nsv508636 CNV deletion 20534489
nsv509416 CNV insertion 20534489
nsv952461 CNV deletion 24416366

Variation tolerance for WDR74 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR74 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR74

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR74 Gene

Disorders for WDR74 Gene

MalaCards: The human disease database

(5) MalaCards diseases for WDR74 Gene - From: COP

Disorder Aliases PubMed IDs
lateral ventricle meningioma
  • meningioma of the lateral ventricle
intraventricular meningioma
robinow syndrome, autosomal dominant 1
  • drs1
brain meningioma
  • intracranial meningioma
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
- elite association - COSMIC cancer census association via MalaCards
Search WDR74 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR74

genes like me logo Genes that share disorders with WDR74: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR74 Gene

Publications for WDR74 Gene

  1. Structural Analysis Reveals Features of Ribosome Assembly Factor Nsa1/WDR74 Important for Localization and Interaction with Rix7/NVL2. (PMID: 28416111) Lo YH … Stanley RE (Structure (London, England : 1993) 2017) 2 3 4
  2. AAA-ATPase NVL2 acts on MTR4-exosome complex to dissociate the nucleolar protein WDR74. (PMID: 26456651) Hiraishi N … Nagahama M (Biochemical and biophysical research communications 2015) 2 3 4
  3. WDR74 participates in an early cleavage of the pre-rRNA processing pathway in cooperation with the nucleolar AAA-ATPase NVL2. (PMID: 29107693) Hiraishi N … Nagahama M (Biochemical and biophysical research communications 2018) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for WDR74 Gene

Sources for WDR74 Gene