WDR18 WD repeat domain 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR18provided by HGNC
Official Full Name: WD repeat domain 18provided by HGNC
Primary source: HGNC:HGNC:17956
See related: Ensembl:ENSG00000065268 MIM:620291; AllianceGenome:HGNC:17956
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: Ipi3; R32184_1
Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 9.8), colon (RPKM 5.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (982928..994557)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (945633..957231)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (982928..994556)

Chromosome 19 - NC_000019.10 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: 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?

Recruitment of the protein complex 5FMC to Zbp-89, a zinc-finger transcription factor, affects its sumoylation status and transactivation potential.[5FMC]
Title: Five friends of methylated chromatin target of protein-arginine-methyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation.
These data define the PELP1-TEX10-WDR18 complex as a regulator of ribosome biogenesis and suggests that its SUMO-controlled distribution coordinates the rate of ribosome formation.
Title: The SUMO system controls nucleolar partitioning of a novel mammalian ribosome biogenesis complex.

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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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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 DNA-templated DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info
part_of nuclear pre-replicative complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of rixosome complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: WD repeat-containing protein 18

Names: Involved in Processing ITS2 3 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_001372085.1 → NP_001359014.1 WD repeat-containing protein 18 isoform 1

Status: VALIDATED

Source sequence(s)

AC005391, BC000040, BC001648, BU154887

Consensus CDS

CCDS12051.1

UniProtKB/Swiss-Prot

O60390, Q9BV38, Q9BWR2

UniProtKB/TrEMBL

A0A0A0MQU0

Conserved Domains (3) summary

sd00039
Location:84 → 119

7WD40; WD40 repeat [structural motif]

cl10011
Location:212 → 430

Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

cl29593
Location:19 → 297

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_001372086.1 → NP_001359015.1 WD repeat-containing protein 18 isoform 2

Status: VALIDATED

Source sequence(s)

AC005391, BC000040, BC001648, BU154887

UniProtKB/TrEMBL

A0A0A0MQU0

Conserved Domains (3) summary

sd00039
Location:7 → 42

7WD40; WD40 repeat [structural motif]

cl10011
Location:135 → 353

Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

cl29593
Location:4 → 229

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_024100.4 → NP_077005.2 WD repeat-containing protein 18 isoform 1

See identical proteins and their annotated locations for NP_077005.2

Status: VALIDATED

Source sequence(s)

BC000040, BC001648, BU154887

Consensus CDS

CCDS12051.1

UniProtKB/Swiss-Prot

O60390, Q9BV38, Q9BWR2

UniProtKB/TrEMBL

A0A0A0MQU0

Related

ENSP00000476117.3, ENST00000585809.6

Conserved Domains (3) summary

sd00039
Location:84 → 119

7WD40; WD40 repeat [structural motif]

cl10011
Location:212 → 430

Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

cl29593
Location:19 → 297

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 ...