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
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	18	NC_000018.10 (9708187..9862551)
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 Functions

What's a GeneRIF?

The impaired EGFR signaling and its effects on epidermal differentiation were also observed in familial AI patients and Ncstn(DeltaKC) mice. Thus, our study showed that miR-30a-3p/RAB31/EGFR signaling pathway may play a key role in the pathogenesis of familial AI with NCSTN mutations.
Title: Nicastrin/miR-30a-3p/RAB31 Axis Regulates Keratinocyte Differentiation by Impairing EGFR Signaling in Familial Acne Inversa.
RAB31 plays an important role in osteosarcoma development.
Title: Effect of RAB31 silencing on osteosarcoma cell proliferation and migration through the Hedgehog signaling pathway.
Findings identified a breast cancer (BC) susceptibility SNP, rs6506689 G>T in RAB31. Functional analysis of this germline mutation suggested that the rs6506689-T allele may increase FOXA1-binding affinity and up-regulates the expression of RAB31, ultimately promoting the development of BC.
Title: Integrative functional genomics identifies regulatory genetic variant modulating RAB31 expression and altering susceptibility to breast cancer.
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.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

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)

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: 235 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
endomembrane system	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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.