WDR24 WD repeat domain 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR24provided by HGNC
Official Full Name: WD repeat domain 24provided by HGNC
Primary source: HGNC:HGNC:20852
See related: Ensembl:ENSG00000127580 MIM:620307; AllianceGenome:HGNC:20852
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: JFP7; C16orf21
Summary: Enables ubiquitin protein ligase activity. Involved in several processes, including cellular response to amino acid starvation; positive regulation of TORC1 signaling; and protein K6-linked ubiquitination. Located in cytosol and lysosomal membrane. Part of GATOR2 complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 5.5), spleen (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (684622..690398, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (688697..694473, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (734622..740398, complement)

Chromosome 16 - NC_000016.10 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?

CDK5-PRMT1-WDR24 signaling cascade promotes mTORC1 signaling and tumor growth.
Title: CDK5-PRMT1-WDR24 signaling cascade promotes mTORC1 signaling and tumor growth.
The GATOR2-mTORC2 axis mediates Sestrin2-induced AKT Ser/Thr kinase activation.
Title: The GATOR2-mTORC2 axis mediates Sestrin2-induced AKT Ser/Thr kinase activation.
Consistent with our findings in Drosophila, through the characterization of a wdr24-/- knockout HeLa cell line we determined that Wdr24 promotes lysosome acidification and autophagic flux in mammalian cells
Title: The GATOR2 Component Wdr24 Regulates TORC1 Activity and Lysosome Function.

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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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to amino acid starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of TORC1 signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of macroautophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K6-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of GATOR2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GATOR2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of GATOR2 complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
is_active_in vacuolar membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: GATOR2 complex protein WDR24

Names: GATOR complex protein WDR24; WD repeat-containing protein 24

NP_115635.1

EC 2.3.2.27

XP_047290723.1

EC 2.3.2.27

XP_054170126.1

EC 2.3.2.27

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_032259.4 → NP_115635.1 GATOR2 complex protein WDR24

See identical proteins and their annotated locations for NP_115635.1

Status: VALIDATED

Source sequence(s)

AL136863, BC009761

Consensus CDS

CCDS10420.1

UniProtKB/Swiss-Prot

A2IDB8, D3DU59, Q96GC7, Q96S15, Q9H0B7

UniProtKB/TrEMBL

A0A3B3ISA1

Related

ENSP00000293883.4, ENST00000293883.9

Conserved Domains (3) summary

sd00039
Location:75 → 118

7WD40; WD40 repeat [structural motif]

cd16693
Location:742 → 787

mRING-H2-C3H3C2_WDR24; Modified RING finger, H2 subclass (C3H3C2-type), found in WD repeat-containing protein 24 (WDR24) and similar proteins

cl29593
Location:86 → 323

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 ...