RAB8B RAB8B, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB8Bprovided by HGNC
Official Full Name: RAB8B, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:30273
See related: Ensembl:ENSG00000166128 MIM:613532; AllianceGenome:HGNC:30273
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: RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]
Expression: Ubiquitous expression in bone marrow (RPKM 21.6), lymph node (RPKM 18.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (63189606..63267776)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (60994386..61072552)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (63481805..63559975)

Chromosome 15 - NC_000015.10 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?

Rab8 GTPase can regulate Klotho-mediated inhibition of Wnt signaling activity by modulating translocation of Klotho onto the cell surface.
Title: Rab8 GTPase regulates Klotho-mediated inhibition of cell growth and progression by directly modulating its surface expression in human non-small cell lung cancer.
there is significant upregulation of RAB8B in patients with rs1986112 GG and AG genotype compared to AA genotype, suggesting a role in schizophrenia development
Title: The rs1986112 Variant is Associated with Increased RAB8B Gene Expression in Schizophrenic Patients.
Rab8A GTPase Ser(111) phosphorylation is not directly regulated by PINK1 in vitro and demonstrate in cells the time course of Ser(111) phosphorylation of Rab8A, 8B and 13 is markedly delayed compared to phosphorylation of Parkin at Ser(65).
Title: Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. 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

RH66341 (e-PCR)
- UniSTS:78995

RH99155 (e-PCR)
- UniSTS:92313

G09506 (e-PCR)
- UniSTS:72162

RAB8B__5633 (e-PCR)
- UniSTS:463845

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	NAS Non-traceable Author Statement more info	PubMed
enables TPR domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor 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 cell-substrate junction organization	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of corticotropin secretion	IEA Inferred from Electronic Annotation more info
involved_in protein import into peroxisome membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell tip	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in peroxisomal membrane	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 plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	TAS Traceable Author Statement more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in trans-Golgi network transport vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ras-related protein Rab-8B

Names: RAB-8b protein

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_016530.3 → NP_057614.1 ras-related protein Rab-8B

See identical proteins and their annotated locations for NP_057614.1

Status: VALIDATED

Source sequence(s)

AB038995, AC016207, BG721755

Consensus CDS

CCDS10183.1

UniProtKB/Swiss-Prot

Q5JPC4, Q92930, Q9P293

UniProtKB/TrEMBL

B4DMS1

Related

ENSP00000312734.4, ENST00000321437.9

Conserved Domains (1) summary

cd01867
Location:6 → 172

Rab8_Rab10_Rab13_like; Rab GTPase families 8, 10, 13 (Rab8, Rab10, Rab13)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

63189606..63267776

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022312.1 → XP_016877801.1 ras-related protein Rab-8B isoform X1

Conserved Domains (1) summary

cl21455
Location:1 → 91

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_011521669.4 → XP_011519971.1 ras-related protein Rab-8B isoform X2

Conserved Domains (1) summary

cl21455
Location:6 → 82

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases