RAB17 RAB17, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB17provided by HGNC
Official Full Name: RAB17, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:16523
See related: Ensembl:ENSG00000124839 MIM:602206; AllianceGenome:HGNC:16523
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: The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]
Expression: Biased expression in duodenum (RPKM 20.0), small intestine (RPKM 19.8) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (237574326..237590734, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (238064233..238091618, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (238482969..238499377, complement)

Chromosome 2 - NC_000002.12 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?

Downregulation of Rab17 promotes cell proliferation and invasion in non-small cell lung cancer through STAT3/HIF-1alpha/VEGF signaling.
Title: Downregulation of Rab17 promotes cell proliferation and invasion in non-small cell lung cancer through STAT3/HIF-1α/VEGF signaling.
ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes.
Title: ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes.
Rab17 is rapidly recruited to efferosomes, followed by migration of the efferosome to the cell center where it intermixes with lysosomes and undergoes Rab17-dependent vesiculation.
Title: Rab17 mediates intermixing of phagocytosed apoptotic cells with recycling endosomes.
Mass spectrometry and immunofluorescence microscopy of efferosomes and phagosomes in macrophages demonstrated that efferosomes lacked the proteins required for antigen presentation and instead recruited the recycling regulator Rab17.
Title: Rab17 mediates differential antigen sorting following efferocytosis and phagocytosis.
Down-regulation of Rab17 promotes tumourigenic properties of hepatocellular carcinoma cells via Erk MAPK signaling.
Title: Down-regulation of Rab17 promotes tumourigenic properties of hepatocellular carcinoma cells via Erk pathway.
Rab17 might act as a tumour suppressor gene in hepatocellular carcinoma , and the anti-tumour effects of Rab17 might be partially mediated by the Erk pathway.
Title: Rab17 inhibits the tumourigenic properties of hepatocellular carcinomas via the Erk pathway.
These results suggest that Rab17 and Rab17-mediated REs are involved in Streptococcus pyogenes-containing autophagosome-like vacuole formation.
Title: Rab17-mediated recycling endosomes contribute to autophagosome formation in response to Group A Streptococcus invasion.
Knockdown of either Rab17 or liprin-beta2 restores invasiveness of ERK2-depleted cells, indicating that ERK2 drives invasion of MDA-MB-231 cells by suppressing expression of these genes.
Title: ERK2 drives tumour cell migration in three-dimensional microenvironments by suppressing expression of Rab17 and liprin-β2.
Data reveal new functions for recycling endosomes and Rab17 in pigmentation through a distal step in the process of melanosome release via filopodia.
Title: The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking.
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.

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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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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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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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 endocytic recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of melanosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcytosis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in melanosome	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in recycling endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ras-related protein Rab-17

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_022449.4 → NP_071894.1 ras-related protein Rab-17

See identical proteins and their annotated locations for NP_071894.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the full-length protein.

Source sequence(s)

BC023661, BC050426

Consensus CDS

CCDS2520.1

UniProtKB/Swiss-Prot

Q53QV6, Q6IA73, Q6PJZ0, Q9BVU1, Q9H0T7, Q9H9U9

UniProtKB/TrEMBL

Q6FIH2

Related

ENSP00000264601.3, ENST00000264601.8

Conserved Domains (1) summary

cd01860
Location:20 → 181

Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

RNA

NR_033308.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1. This variant is represented as non-coding because because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC023661

Related

ENST00000392001.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

237574326..237590734 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712689.3 → XP_006712752.1 ras-related protein Rab-17 isoform X5

UniProtKB/TrEMBL

Q6FIH2

Conserved Domains (2) summary

pfam00071
Location:21 → 160

Ras; Ras family

cl21455
Location:20 → 159

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_047445413.1 → XP_047301369.1 ras-related protein Rab-17 isoform X4
XM_047445412.1 → XP_047301368.1 ras-related protein Rab-17 isoform X3
XM_017004694.3 → XP_016860183.1 ras-related protein Rab-17 isoform X2
XM_017004693.3 → XP_016860182.1 ras-related protein Rab-17 isoform X1