RAB32 RAB32, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB32provided by HGNC
Official Full Name: RAB32, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9772
See related: Ensembl:ENSG00000118508 MIM:612906; AllianceGenome:HGNC:9772
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PARK26
Summary: The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]
Expression: Broad expression in bone marrow (RPKM 49.7), spleen (RPKM 19.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (146543833..146554953)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (147737054..147748175)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (146864969..146876089)

Chromosome 6 - NC_000006.12 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?

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Title: RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Title: Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Deciphering the molecular regulatory of RAB32/GPRC5A axis in chronic obstructive pulmonary disease.
Title: Deciphering the molecular regulatory of RAB32/GPRC5A axis in chronic obstructive pulmonary disease.
Rab32 promotes glioblastoma migration and invasion via regulation of ERK/Drp1-mediated mitochondrial fission.
Title: Rab32 promotes glioblastoma migration and invasion via regulation of ERK/Drp1-mediated mitochondrial fission.
The small GTPase Rab32 resides on lysosomes to regulate mTORC1 signaling.
Title: The small GTPase Rab32 resides on lysosomes to regulate mTORC1 signaling.
Expression of a T39N mutant Rab32 protein arrests mitochondria movement within neurites of differentiated SH-SY5Y cells.
Title: Expression of a T39N mutant Rab32 protein arrests mitochondria movement within neurites of differentiated SH-SY5Y cells.
This study showed that RAB32 and RHOT2 were associated with aging, and that individuals exhibiting methylation levels of the RAB32 CpG site higher than 10% were observed more prone to disability than people with lower levels.
Title: Epigenetic signature: implications for mitochondrial quality control in human aging.
The data imply that Rab32 is linked to SNX6/retromer trafficking at the Golgi, and also suggests a possible connection between the retromer and Rab32 in the trafficking and biological functions of LRRK2.
Title: Rab32 interacts with SNX6 and affects retromer-dependent Golgi trafficking.
megalin is critical for mitochondrial biology; mitochondrial intracrine signaling is a continuum of the retrograde early endosome-to-Golgi-Rab32 pathway and defects in this pathway may underlie disease processes in many systems.
Title: Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism.
this study provides some compelling evidence showing that Rab32 is an essential host factor required for HCV particle assembly and thus that Rab32 could be a potential therapeutic target to interrupt HCV propagation.
Title: Hepatitis C Virus-Induced Rab32 Aggregation and Its Implications for Virion Assembly.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. 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

STS-N33379 (e-PCR)
- UniSTS:63249

D6S2139 (e-PCR)
- UniSTS:10123

SHGC-132159 (e-PCR)
- UniSTS:170681

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AP-1 adaptor complex binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables AP-2 adaptor complex binding	IDA Inferred from Direct Assay more info	PubMed
enables AP-3 adaptor complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables BLOC-2 complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables GTP binding	NAS Non-traceable Author Statement more info	PubMed
enables GTP-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome to melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in melanosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
NOT located_in early endosome lumen	IDA Inferred from Direct Assay more info	PubMed
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome membrane	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondria-associated endoplasmic reticulum membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ras-related protein Rab-32

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.