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WDR76 WD repeat domain 76 [ Homo sapiens (human) ]

Gene ID: 79968, updated on 5-Mar-2024

Summary

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Official Symbol
WDR76provided by HGNC
Official Full Name
WD repeat domain 76provided by HGNC
Primary source
HGNC:HGNC:25773
See related
Ensembl:ENSG00000092470 MIM:620302; AllianceGenome:HGNC:25773
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
CMR1; CDW14
Summary
Enables enzyme binding activity. Involved in cellular response to DNA damage stimulus. Located in heterochromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lymph node (RPKM 6.6), bone marrow (RPKM 3.7) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See WDR76 in Genome Data Viewer
Location:
15q15.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43827002..43868412)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41634360..41675772)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44119200..44160610)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SERF2-C15orf63 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44092216-44092916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:44104820-44106019 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:44116704-44117335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6390 Neighboring gene microfibril associated protein 1 Neighboring gene huntingtin interacting protein K Neighboring gene VISTA enhancer hs1881 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 Neighboring gene FERM domain containing 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220113-44220764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220765-44221414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9333 Neighboring gene NANOG hESC enhancer GRCh37_chr15:44265102-44265603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281101-44281938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281939-44282775 Neighboring gene ACTB pseudogene 7

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. Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells. Kwon M, et al. Eur J Pharmacol, 2022 May 15. PMID 35381263
  2. The role of WDR76 protein in human diseases. Yang J, et al. Bosn J Basic Med Sci, 2021 Oct 1. PMID 33714259, Free PMC Article
  3. WDR76 degrades RAS and suppresses cancer stem cell activation in colorectal cancer. Ro EJ, et al. Cell Commun Signal, 2019 Jul 30. PMID 31362761, Free PMC Article
  4. Mutations in the candidate tumour suppressor gene FLJ12973 on chromosome 15q15 are rare in colorectal cancer. Fleischmann C, et al. Cancer Lett, 2003 Jun 30. PMID 12860291
  5. Feline immunodeficiency virus integration in B-cell lymphoma identifies a candidate tumor suppressor gene on human chromosome 15q15. Beatty J, et al. Cancer Res, 2002 Dec 15. PMID 12499253

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells.
    Title: Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells.
  2. The role of WDR76 protein in human diseases.
    Title: The role of WDR76 protein in human diseases.
  3. Biochemical Reduction of the Topology of the Diverse WDR76 Protein Interactome.
    Title: Biochemical Reduction of the Topology of the Diverse WDR76 Protein Interactome.
  4. destabilization of RAS by WDR76 is a potential strategy for targeting malignant CRC involving CSC activation
    Title: WDR76 degrades RAS and suppresses cancer stem cell activation in colorectal cancer.
  5. Study identifies WD40-repeat protein 76 (WDR76) as one of the HRAS binding proteins using proteomic analyses of hepatocellular carcinomas tissue form human patients and mouse diethylnitrosamine-induced liver carcinogenesis model and demonstrates that WDR76 functions as a tumor suppressor via RAS degradation.
    Title: WDR76 is a RAS binding protein that functions as a tumor suppressor via RAS degradation.
  6. work demonstrates the chromatin and DNA damage protein associations of WDR76 and demonstrates the rapid response of WDR76 to laser induced DNA damage
    Title: WDR76 Co-Localizes with Heterochromatin Related Proteins and Rapidly Responds to DNA Damage.
  7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  9. To examine the proposition that FLJ12973 is involved in colorectal cancer we analysed 31 tumours for sequence variation. No missense changes or pathogenic mutations--truncating or splice site--were detected in any of the tumours.
    Title: Mutations in the candidate tumour suppressor gene FLJ12973 on chromosome 15q15 are rare in colorectal cancer.
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

EBI GWAS Catalog

Description
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
EBI GWAS Catalog

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

  • FLJ12973

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of heterochromatin IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in site of DNA damage IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
WD repeat-containing protein 76

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_001167941.2 → NP_001161413.1  WD repeat-containing protein 76 isoform 2

    See identical proteins and their annotated locations for NP_001161413.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA743653, AC023356, AK023035, BC025247, BC051855, BX374706
    Consensus CDS
    CCDS53938.1
    UniProtKB/TrEMBL
    A0A0C4DFX7
    Related
    ENSP00000370645.2, ENST00000381246.6
    Conserved Domains (2) summary
    sd00039
    Location:252 → 294
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:249 → 460
    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_024908.4 → NP_079184.2  WD repeat-containing protein 76 isoform 1

    See identical proteins and their annotated locations for NP_079184.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA743653, AC023356, AK023035, BC025247, DA439086
    Consensus CDS
    CCDS10106.1
    UniProtKB/Swiss-Prot
    A0MNP5, Q05CI4, Q9H967
    Related
    ENSP00000263795.6, ENST00000263795.11
    Conserved Domains (3) summary
    COG2319
    Location:242 → 541
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:316 → 358
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:313 → 524
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    43827002..43868412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    41634360..41675772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H967.2 GenPept UniProtKB/Swiss-Prot:Q9H967

Gene LinkOut

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

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