RAB3B RAB3B, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB3Bprovided by HGNC
Official Full Name: RAB3B, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9778
See related: Ensembl:ENSG00000169213 MIM:179510; AllianceGenome:HGNC:9778
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
Summary: Enables GDP binding activity; GTPase activity; and myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse. Is anchored component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in prostate (RPKM 6.0), brain (RPKM 3.4) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (51907956..51990700, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (51789104..51872214, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (52373628..52456372, complement)

Chromosome 1 - NC_000001.11 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?

Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B.
Title: Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B.
Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells.
Title: Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells.
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.
Western blot experiments designed to detect flotillin 2, TMEM256, Rab3B and LAMTOR1 showed that the level of these proteins was higher in urinary exosomes from prostate cancer patients compared to healthy males
Title: Exosomal proteins as prostate cancer biomarkers in urine: From mass spectrometry discovery to immunoassay-based validation.
The structure of Rab3B:GDP complex was solved to 1.9A resolution and the structural base comparison with other Rab3 members provides a structural basis for the GDP/GTP switch in controlling the activity of small GTPase.
Title: Crystal structure of inactive form of Rab3B.
These results support an important inter-species difference in regulating insulin exocytosis where RAB3B is the most expressed isoform in human islets.
Title: In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets.
RAB3B improves dopamine handling and storage capacity at presynaptic terminals, and confers protection to vulnerable DA neurons.
Title: Functional enhancement and protection of dopaminergic terminals by RAB3B overexpression.
Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation.
Title: The GTPase Rab3b/3c-positive recycling vesicles are involved in cross-presentation in dendritic cells.
these results add new information to the view that Rab3B is involved in the regulation of pituitary hormone secretion.
Title: Rab3B immunoexpression in human pituitary adenomas.

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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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Markers

SHGC-74815 (e-PCR)
- UniSTS:2859

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-74822 (e-PCR)
- UniSTS:9270

RH36067 (e-PCR)
- UniSTS:81485

SHGC-143353 (e-PCR)
- UniSTS:171878

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-36782 (e-PCR)
- UniSTS:81076

STS-T76997 (e-PCR)
- UniSTS:57556

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
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 antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of dopamine uptake involved in synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in protein secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vesicle size	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in dopaminergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in dopaminergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-related protein Rab-3B

Names: brain antigen RAB3B

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_002867.4 → NP_002858.2 ras-related protein Rab-3B

See identical proteins and their annotated locations for NP_002858.2

Status: VALIDATED

Source sequence(s)

AL589663, AU119030, BC005035

Consensus CDS

CCDS560.1

UniProtKB/Swiss-Prot

P20337, Q5VUL2, Q9BSI1

UniProtKB/TrEMBL

A0A0A1HAV6, A8K6I8

Related

ENSP00000360718.3, ENST00000371655.4

Conserved Domains (2) summary

smart00175
Location:23 → 183

RAB; Rab subfamily of small GTPases

cd01865
Location:22 → 186

Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

51907956..51990700 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001958.2 → XP_016857447.1 ras-related protein Rab-3B isoform X1

UniProtKB/Swiss-Prot

P20337, Q5VUL2, Q9BSI1

UniProtKB/TrEMBL

A0A0A1HAV6, A8K6I8

Conserved Domains (2) summary

smart00175
Location:23 → 183

RAB; Rab subfamily of small GTPases

cd01865
Location:22 → 186

Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D