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

Gene ID: 64284, updated on 17-Jun-2019

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
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

Genomic context

See RAB17 in Genome Data Viewer
Location:
2q37.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (237574322..237591126, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238482965..238499769, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1140, pseudogene Neighboring gene prolactin releasing hormone Neighboring gene uncharacterized LOC105373958 Neighboring gene VISTA enhancer hs1945

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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.
  • 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 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12538

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocytic recycling ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of melanosome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
transcytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
melanosome ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
recycling endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
recycling endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_022449.4NP_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
    Q9H0T7
    UniProtKB/TrEMBL
    A0A024R4A4
    Related
    ENSP00000264601.3, ENST00000264601.8
    Conserved Domains (1) summary
    cd01860
    Location:20181
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

RNA

  1. NR_033308.1 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)
    BC007907, BC023661, BP313619
    Related
    ENST00000392001.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    237574322..237591126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712689.2XP_006712752.1  ras-related protein Rab-17 isoform X3

    Conserved Domains (2) summary
    pfam00071
    Location:21160
    Ras; Ras family
    cl21455
    Location:20159
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_017004694.2XP_016860183.1  ras-related protein Rab-17 isoform X2

  3. XM_017004693.2XP_016860182.1  ras-related protein Rab-17 isoform X1

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