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; AllianceGenome:HGNC:9771
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
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Genomic context

Location:: 18p11.22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (9708301..9862551)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (9871688..10026019)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (9708298..9862548)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

LncRNA HOXA10-AS Activated by E2F1 Facilitates Proliferation and Migration of Nasopharyngeal Carcinoma Cells Through Sponging miR-582-3p to Upregulate RAB31.
Title: LncRNA HOXA10-AS Activated by E2F1 Facilitates Proliferation and Migration of Nasopharyngeal Carcinoma Cells Through Sponging miR-582-3p to Upregulate RAB31.
Rab31-dependent regulation of transforming growth factor ss expression in breast cancer cells.
Title: Rab31-dependent regulation of transforming growth factor ß expression in breast cancer cells.
RAB31 marks and controls an ESCRT-independent exosome pathway.
Title: RAB31 marks and controls an ESCRT-independent exosome pathway.
High expression of Rab31 confers a poor prognosis and enhances cell proliferation and invasion in oral squamous cell carcinoma.
Title: High expression of Rab31 confers a poor prognosis and enhances cell proliferation and invasion in oral squamous cell carcinoma.
Shigella escapes lysosomal degradation through inactivation of Rab31 by IpaH4.5.
Title: <i>Shigella</i> escapes lysosomal degradation through inactivation of Rab31 by IpaH4.5.
Upregulation of Rab31 is associated with poor prognosis and promotes colorectal carcinoma proliferation via the mTOR/p70S6K/Cyclin D1 signalling pathway.
Title: Upregulation of Rab31 is associated with poor prognosis and promotes colorectal carcinoma proliferation via the mTOR/p70S6K/Cyclin D1 signalling pathway.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

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: 307 organisms have orthologs with human gene RAB31
Orthologs

Gene Ontology Provided by GOA

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

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

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