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

Summary

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; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in lymph node (RPKM 14.9), endometrium (RPKM 14.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q32.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (189441474..189475552)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (189930767..189964846)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (190306200..190340278)

Chromosome 2 - NC_000002.12 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: 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?

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 EBI GWAS CatalogPubMed

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

A005T33 (e-PCR)
- UniSTS:7246

G20486 (e-PCR)
- UniSTS:7247

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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)

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 ...
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 ...