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

Gene ID: 64284, updated on 17-Jun-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
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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_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_000002.12Genomic 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 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 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)

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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)

  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_2023_10

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