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

    Gene ID: 64284, updated on 10-Dec-2024

    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
    NEW
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    Genomic context

    See RAB17 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (237574326..237590734, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238064233..238091618, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238482969..238499377, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238472066-238472566 Neighboring gene RNA, U6 small nuclear 1140, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:238480736-238480921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238481515-238482050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238483169-238483868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238485267-238485965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238490210-238490844 Neighboring gene prolactin releasing hormone Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238503899-238504617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238504725-238505226 Neighboring gene RAB17 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238512736-238513239 Neighboring gene VISTA enhancer hs1945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238539637-238540136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238540139-238540700 Neighboring gene LRR binding FLII interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238558724-238559224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238559225-238559725 Neighboring gene NANOG hESC enhancer GRCh37_chr2:238571326-238571867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238572854-238573422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238581723-238582348 Neighboring gene Sharpr-MPRA regulatory region 636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238583717-238584263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595001-238595502 Neighboring gene uncharacterized LOC124906128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595503-238596002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238599723-238600598

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12538

    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 anterograde dendritic transport IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 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
     
    located_in dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    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 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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q53QV6, Q6IA73, Q6PJZ0, Q9BVU1, Q9H0T7, Q9H9U9
      UniProtKB/TrEMBL
      Q6FIH2
      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_033308.2 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      237574326..237590734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      Q6FIH2
      Conserved Domains (2) summary
      pfam00071
      Location:21160
      Ras; Ras family
      cl21455
      Location:20159
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_047445413.1XP_047301369.1  ras-related protein Rab-17 isoform X4

    3. XM_047445412.1XP_047301368.1  ras-related protein Rab-17 isoform X3

    4. XM_017004694.3XP_016860183.1  ras-related protein Rab-17 isoform X2

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238064233..238091618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343363.1XP_054199338.1  ras-related protein Rab-17 isoform X6

      UniProtKB/TrEMBL
      Q6FIH2
    2. XM_054343364.1XP_054199339.1  ras-related protein Rab-17 isoform X5

      UniProtKB/TrEMBL
      Q6FIH2
    3. XM_054343362.1XP_054199337.1  ras-related protein Rab-17 isoform X4

    4. XM_054343361.1XP_054199336.1  ras-related protein Rab-17 isoform X3

    5. XM_054343360.1XP_054199335.1  ras-related protein Rab-17 isoform X2

    6. XM_054343359.1XP_054199334.1  ras-related protein Rab-17 isoform X1