RAB31 RAB31, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB31provided by HGNC
Official Full Name: RAB31, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9771
See related: Ensembl:ENSG00000168461 MIM:605694
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: Rab22B
Summary: Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]
Expression: Broad expression in brain (RPKM 65.3), adrenal (RPKM 60.7) and 22 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 18p11.22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	18	NC_000018.10 (9708187..9862556)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (9708228..9862553)

Chromosome 18 - NC_000018.10 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
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 FunctionsWhat's a GeneRIF?

the role of Rab31 in cancer progression, is reported.
Title: The Critical Role of Rab31 in Cell Proliferation and Apoptosis in Cancer Progression.
this study provides the evidence of Rab31 overexpression in HCC, and Rab31 is potentially used as a novel biomarker of poor prognosis in patients with HCC. PI3K/AKT/Bcl-2/BAX axis was involved in Rab31-promoting HCC progression.
Title: Rab31 promoted hepatocellular carcinoma (HCC) progression via inhibition of cell apoptosis induced by PI3K/AKT/Bcl-2/BAX pathway.
Data indicate that early endosome antigen 1 (EEA1) is important for the small GTPase Rab31-mediated enhancement of ligand-bound EGF receptor (EGFR) endocytic trafficking.
Title: Engagement of the small GTPase Rab31 protein and its effector, early endosome antigen 1, is important for trafficking of the ligand-bound epidermal growth factor receptor from the early to the late endosome.
MUC1-C and Rab31 function in an autoinductive loop that contributes to overexpression of MUC1-C in breast cancer cells.
Title: Cooperative interaction between the MUC1-C oncoprotein and the Rab31 GTPase in estrogen receptor-positive breast cancer cells.
Overexpression of rab31 in breast cancer cells leads to a switch from an invasive to a proliferative phenotype as indicated by an increased cell proliferation, reduced adhesion and invasion in vitro, and a reduced capacity to form lung metastases in vivo.
Title: Rab31 expression levels modulate tumor-relevant characteristics of breast cancer cells.
Neither UPARwt, nor UPAR-del4/5 nor RAB31 mRNA expression levels were found to be prognostic markers in advanced ovarian cancer.
Title: mRNA expression levels of the biological factors uPAR, uPAR-del4/5, and rab31, displaying prognostic value in breast cancer, are not clinically relevant in advanced ovarian cancer.
RIN3 specifically acts as a GEF for Rab31.
Title: Characterization of RIN3 as a guanine nucleotide exchange factor for the Rab5 subfamily GTPase Rab31.
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.
Rab22B possibly plays role in regulating epidermal growth factor receptor (EGFR) and mannose 6-phosphate receptor (M6PR) transport into late endosomes.
Title: Rab22B is expressed in the CNS astroglia lineage and plays a role in epidermal growth factor receptor trafficking in A431 cells.
uPAR-del4/5 and rab31 mRNA represent independent prognostic markers in breast cancer and may be components of different, but possibly associated, tumor-relevant signaling pathways.
Title: Urokinase receptor splice variant uPAR-del4/5-associated gene expression in breast cancer: identification of rab31 as an independent prognostic factor.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. NHGRI GWA Catalog NHGRI GWA 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)

Pathways from BioSystems

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Endocytosis, organism-specific biosystem (from KEGG)
Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Endocytosis, conserved biosystem (from KEGG)
Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Membrane Trafficking, organism-specific biosystem (from REACTOME)
Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
Neutrophil degranulation, organism-specific biosystem (from REACTOME)
Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
Post-translational protein modification, organism-specific biosystem (from REACTOME)
Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70486 (e-PCR)
- UniSTS:90122

SHGC-34486 (e-PCR)
- UniSTS:61254

RH69934 (e-PCR)
- UniSTS:62544

GDB:315753 (e-PCR)
- UniSTS:156541

D18S362E (e-PCR)
- UniSTS:22400

D18S1072 (e-PCR)
- UniSTS:154290

RH17881 (e-PCR)
- UniSTS:20701

D18S1226 (e-PCR)
- UniSTS:37603

D18S923E (e-PCR)
- UniSTS:150521

D18S907E (e-PCR)
- UniSTS:49403

Homology

Homologs of the RAB31 gene: The RAB31 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 244 organisms have orthologs with human gene RAB31
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GDP binding	IDA Inferred from Direct Assay more info	PubMed
GTP binding	IDA Inferred from Direct Assay more info	PubMed
GTPase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
Golgi to plasma membrane protein transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
Golgi to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
Rab protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neutrophil degranulation	TAS Traceable Author Statement more info
phagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of phagocytosis, engulfment	ISS Inferred from Sequence or Structural Similarity more info
receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
regulated exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
early endosome	IDA Inferred from Direct Assay more info	PubMed
early endosome membrane	TAS Traceable Author Statement more info
early phagosome membrane	ISS Inferred from Sequence or Structural Similarity more info
phagocytic cup	ISS Inferred from Sequence or Structural Similarity more info
phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
secretory granule membrane	TAS Traceable Author Statement more info
trans-Golgi network membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras-related protein Rab-31

Names: ras-related protein Rab-22B

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.