RAB3D RAB3D, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB3Dprovided by HGNC
Official Full Name: RAB3D, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9779
See related: Ensembl:ENSG00000105514 MIM:604350; AllianceGenome:HGNC:9779
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: GOV; D2-2; RAB16; RAD3D
Summary: Enables myosin V binding activity. Involved in bone resorption and positive regulation of regulated secretory pathway. Located in cytoplasmic microtubule and secretory vesicle. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 14.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11322068..11339657, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11449052..11466642, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11432744..11450333, complement)

Chromosome 19 - NC_000019.10 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?

CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
Title: CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
[miR-125b-5p inhibits proliferation and migration of osteosarcoma cells by negatively regulating RAB3D expression].
Title: [miR-125b-5p inhibits proliferation and migration of osteosarcoma cells by negatively regulating RAB3D expression].
Hsa_circ_0006732 regulates colorectal cancer cell proliferation, invasion and EMT by miR-127-5p/RAB3D axis.
Title: Hsa_circ_0006732 regulates colorectal cancer cell proliferation, invasion and EMT by miR-127-5p/RAB3D axis.
Hsa_circ_0103232 promotes melanoma cells proliferation and invasion via targeting miR-661/RAB3D.
Title: Hsa_circ_0103232 promotes melanoma cells proliferation and invasion via targeting miR-661/RAB3D.
Rab3 proteins and cancer: Exit strategies.
Title: Rab3 proteins and cancer: Exit strategies.
GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.
Title: GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.
Long non-coding RNA FGD5-AS1 enhances osteosarcoma cell proliferation and migration by targeting miR-506-3p/RAB3D axis.
Title: Long non-coding RNA FGD5-AS1 enhances osteosarcoma cell proliferation and migration by targeting miR-506-3p/RAB3D axis.
targeting the Rab3D may be a potential therapeutic target for treatment of esophageal squamous cell carcinoma.
Title: Silencing of Rab3D suppresses the proliferation and invasion of esophageal squamous cell carcinoma cells.
increased Rab3D expression is associated with invasiveness of CRC cells
Title: High expression of Rab3D predicts poor prognosis and associates with tumor progression in colorectal cancer.
High expression of small GTPase Rab3D promotes cancer progression and metastasis.
Title: High expression of small GTPase Rab3D promotes cancer progression and metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. 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

GDB:434012 (e-PCR)
- UniSTS:157204

HSC1UF062 (e-PCR)
- UniSTS:81700

D8S2279 (e-PCR)
- UniSTS:473907

GDB:314949 (e-PCR)
- UniSTS:156503

RAB3D_775 (e-PCR)
- UniSTS:277642

G62051 (e-PCR)
- UniSTS:139154

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTP-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables myosin V binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin V binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bone resorption	IDA Inferred from Direct Assay more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of regulated secretory pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in zymogen granule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras-related protein Rab-3D

Names: Rab3D upregulated with myeloid differentiation; epididymis secretory sperm binding protein; glioblastoma overexpressed

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.