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

Summary

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, Dec 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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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

RH103997 (e-PCR)
- UniSTS:98322

SHGC-2475 (e-PCR)
- UniSTS:3877

RH16519 (e-PCR)
- UniSTS:38750

RH102034 (e-PCR)
- UniSTS:96368

Rnu2 (e-PCR), detects polymorphism
- UniSTS:530590

PMC150226P1 (e-PCR)
- UniSTS:271054

WI-15662 (e-PCR)
- UniSTS:65759

SGC33051 (e-PCR)
- UniSTS:24568

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)

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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...