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WDR75 WD repeat domain 75 [ Homo sapiens (human) ]

Gene ID: 84128, updated on 5-Mar-2024

Summary

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Official Symbol
WDR75provided by HGNC
Official Full Name
WD repeat domain 75provided by HGNC
Primary source
HGNC:HGNC:25725
See related
Ensembl:ENSG00000115368 MIM:620341; AllianceGenome:HGNC:25725
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
NET16; UTP17
Summary
Enables RNA binding activity. Involved in positive regulation of rRNA processing and positive regulation of transcription by RNA polymerase I. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 14.9), endometrium (RPKM 14.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q32.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189441474..189475552)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (189930767..189964846)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190306200..190340278)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene collagen type V alpha 2 chain Neighboring gene microRNA 3129 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:190081672-190082544 Neighboring gene keratin 18 pseudogene 19 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:190243866-190244425 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:190291422-190292024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:190305066-190305764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16850 Neighboring gene KDM3A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12170 Neighboring gene solute carrier family 40 member 1

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. RNA-interference screen for p53 regulators unveils a role of WDR75 in ribosome biogenesis. Moudry P, et al. Cell Death Differ, 2022 Mar. PMID 34611297, Free PMC Article
  2. Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. Prieto JL, et al. Genes Dev, 2007 Aug 15. PMID 17699751, Free PMC Article
  3. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Benyamin B, et al. Nat Commun, 2014 Oct 29. PMID 25352340, Free PMC Article
  4. Genome-wide RNAi screen identifies the Parkinson disease GWAS risk locus SREBF1 as a regulator of mitophagy. Ivatt RM, et al. Proc Natl Acad Sci U S A, 2014 Jun 10. PMID 24912190, Free PMC Article
  5. Nucleolar maturation of the human small subunit processome. Singh S, et al. Science, 2021 Sep 10. PMID 34516797, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNA-interference screen for p53 regulators unveils a role of WDR75 in ribosome biogenesis.
    Title: RNA-interference screen for p53 regulators unveils a role of WDR75 in ribosome biogenesis.
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
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12519, DKFZp781N1244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in positive regulation of rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of rRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase I IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in ribosomal small subunit biogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of small-subunit processome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
WD repeat-containing protein 75
Names
U3 small nucleolar RNA-associated protein 17 homolog
UTP17, small subunit (SSU) processome component, homolog

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_001303096.2 → NP_001290025.1  WD repeat-containing protein 75 isoform 2

    See identical proteins and their annotated locations for NP_001290025.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon which results in a distinct 5' UTR and use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK091546, AL122097, BI460450, BU619995
    UniProtKB/TrEMBL
    A8K330
    Conserved Domains (3) summary
    COG2319
    Location:7 → 421
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:95 → 130
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:7 → 252
    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_032168.3 → NP_115544.1  WD repeat-containing protein 75 isoform 1

    See identical proteins and their annotated locations for NP_115544.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK023276, BC040567, BU619995
    Consensus CDS
    CCDS2298.1
    UniProtKB/Swiss-Prot
    Q8IWA0, Q96J10, Q9H8U8, Q9H9U5, Q9H9V8, Q9UIX2
    UniProtKB/TrEMBL
    A8K330
    Related
    ENSP00000314193.4, ENST00000314761.9
    Conserved Domains (3) summary
    COG2319
    Location:24 → 320
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:61 → 99
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:20 → 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 ...

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    189441474..189475552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    189930767..189964846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWA0.1 GenPept UniProtKB/Swiss-Prot:Q8IWA0

Gene LinkOut

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

Chemical Information
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