RAB6B RAB6B, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB6Bprovided by HGNC
Official Full Name: RAB6B, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:14902
See related: Ensembl:ENSG00000154917 MIM:615852; AllianceGenome:HGNC:14902
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 myosin V binding activity. Involved in Golgi organization and protein localization to Golgi membrane. Located in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 76.4), heart (RPKM 6.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (133824235..133895882, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (136569430..136641051, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (133543079..133614726, complement)

Chromosome 3 - NC_000003.12 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
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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
DYNLRB1 specifically interacts with all three Rab6 isoforms and co-localises at the Golgi.
Title: Rab6 family proteins interact with the dynein light chain protein DYNLRB1.
The brain-specific Rab6B via Bicaudal-D1 is linked to the dynein/dynactin complex, suggesting a regulatory role for Rab6B in the retrograde transport of cargo in neuronal cells.
Title: A role for the Rab6B Bicaudal-D1 interaction in retrograde transport in neuronal cells.
Conformational changes in human neuronal Rab6B between its inactive GDP and active GTP-like state are observed mainly in the switch I and switch II regions, confirming their role as a molecular switch.
Title: The structure of human neuronal Rab6B in the active and inactive form.

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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

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 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

HSC25E012 (e-PCR)
- UniSTS:64055

RH11770 (e-PCR)
- UniSTS:8510

SHGC-2364 (e-PCR)
- UniSTS:68931

T03553 (e-PCR)
- UniSTS:21087

SHGC-147819 (e-PCR)
- UniSTS:176031

SHGC-84639 (e-PCR)
- UniSTS:103128

WI-15336 (e-PCR)
- UniSTS:80872

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	NAS Non-traceable Author Statement more info	PubMed
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 Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi apparatus	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras-related protein Rab-6B

Names: small GTP-binding protein; small GTPase RAB6B

NP_001350882.1

EC 3.6.5.2

NP_057661.3

EC 3.6.5.2

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_001363953.1 → NP_001350882.1 ras-related protein Rab-6B isoform 2

Status: VALIDATED

Source sequence(s)

AC080128, AF166492, AK295451, BC078662, DA221889

Consensus CDS

CCDS87137.1

UniProtKB/TrEMBL

Q6AZ91

Related

ENSP00000419381.1, ENST00000486858.5

Conserved Domains (1) summary

cd01861
Location:11 → 161

Rab6; Rab GTPase family 6 (Rab6)
NM_016577.4 → NP_057661.3 ras-related protein Rab-6B isoform 1

Status: VALIDATED

Source sequence(s)

AC080128, AF166492, DA221889

Consensus CDS

CCDS3082.1

UniProtKB/Swiss-Prot

B2R5Z9, B7Z337, D3DND3, Q92929, Q9NRW1

UniProtKB/TrEMBL

Q6AZ91

Related

ENSP00000285208.4, ENST00000285208.9

Conserved Domains (1) summary

cd01861
Location:14 → 174

Rab6; Rab GTPase family 6 (Rab6)