RAB38 RAB38, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB38provided by HGNC
Official Full Name: RAB38, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9776
See related: Ensembl:ENSG00000123892 MIM:606281; AllianceGenome:HGNC:9776
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: rrGTPbp; NY-MEL-1
Summary: Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (87803715..88175443, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (87746041..88094423, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (87846419..87908611, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Endogenous Rab38 regulates LRRK2's membrane recruitment and substrate Rab phosphorylation in melanocytes.
Title: Endogenous Rab38 regulates LRRK2's membrane recruitment and substrate Rab phosphorylation in melanocytes.
Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.
Title: Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.
RAB38 Facilitates Energy Metabolism and Counteracts Cell Death in Glioblastoma Cells.
Title: RAB38 Facilitates Energy Metabolism and Counteracts Cell Death in Glioblastoma Cells.
RAB38 silencing also inhibited the development of pancreatic cancer in vivo. A high level of RAB38 was significantly associated with the malignant phenotypes of pancreatic cancer.
Title: High expression of RAB38 promotes malignant progression of pancreatic cancer.
Rab38 was associated with albuminuria in type 2 diabetes patients. Relative expression of RAB38 was higher in tubuli of patients with diabetic kidney disease compared with control subjects.
Title: Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Rab38 and its close homolog Rab32 bind to Myosin Vc but not to Myosin Va or Myosin Vb. Binding depends on residues in the switch II region of Rab32 and Rab38 and regions of the Myosin Vc coiled-coil tail domain.
Title: Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes.
MiR-124 significantly decreases the H2O2-induced apoptosis of human hepatic L02 cells by targeting the Rab38 gene and activating the AKT pathway.
Title: MiR-124 protects human hepatic L02 cells from H2O2-induced apoptosis by targeting Rab38 gene.
The expression levels of RAB38 were significantly associated with grade progression as well as prognosis in gliomas. RAB38 is an important prognostic biomarker and potential therapeutic target in gliomas.
Title: RAB38 confers a poor prognosis, associated with malignant progression and subtype preference in glioma.
BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles.
Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
that Rab38 and Rab32 are the specific factors that direct the ubiquitous machinery to mediate transport from early endosomes to maturing LROs.
Title: BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Frontotemporal dementia and its subtypes: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. 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

D11S4623 (e-PCR)
- UniSTS:78094

SHGC-144052 (e-PCR)
- UniSTS:172149

STS-N33002 (e-PCR)
- UniSTS:31206

RH93854 (e-PCR)
- UniSTS:90861

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	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet dense granule organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylcholine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein localization to cell periphery	IEA Inferred from Electronic Annotation more info
involved_in protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in small GTPase-mediated signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
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 lysosome	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
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 perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in plasma 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-38

Names: Rab-related GTP-binding protein; melanoma antigen NY-MEL-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.