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] See more...

Aliases for RAB17 Gene

Aliases for RAB17 Gene

  • RAB17, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-17 3 4
  • RAB17 5

External Ids for RAB17 Gene

Previous GeneCards Identifiers for RAB17 Gene

  • GC02M236532
  • GC02M237164
  • GC02M238499
  • GC02M238769
  • GC02M238264
  • GC02M238147
  • GC02M230273

Summaries for RAB17 Gene

Entrez Gene Summary for RAB17 Gene

  • 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]

GeneCards Summary for RAB17 Gene

RAB17 (RAB17, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB17 include Carpenter Syndrome 1. Among its related pathways are Metabolism of proteins and Autophagy Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5A.

UniProtKB/Swiss-Prot Summary for RAB17 Gene

  • The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post-endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development (By similarity). May also play a role in cell migration.

Gene Wiki entry for RAB17 Gene

Additional gene information for RAB17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB17 Gene

Genomics for RAB17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB17

Top Transcription factor binding sites by QIAGEN in the RAB17 gene promoter:
  • AP-1
  • FOXL1
  • LCR-F1
  • Lmo2
  • Msx-1
  • NF-E2
  • NF-E2 p45
  • TBP

Genomic Locations for RAB17 Gene

Genomic Locations for RAB17 Gene
chr2:237,574,322-237,601,614
(GRCh38/hg38)
Size:
27,293 bases
Orientation:
Minus strand
chr2:238,482,965-238,510,257
(GRCh37/hg19)
Size:
27,293 bases
Orientation:
Minus strand

Genomic View for RAB17 Gene

Genes around RAB17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB17 Gene

Proteins for RAB17 Gene

  • Protein details for RAB17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0T7-RAB17_HUMAN
    Recommended name:
    Ras-related protein Rab-17
    Protein Accession:
    Q9H0T7
    Secondary Accessions:
    • Q53QV6
    • Q6IA73
    • Q6PJZ0
    • Q9BVU1
    • Q9H9U9

    Protein attributes for RAB17 Gene

    Size:
    212 amino acids
    Molecular mass:
    23491 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAB17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB17 Gene

Post-translational modifications for RAB17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB17 Gene

Domains & Families for RAB17 Gene

Gene Families for RAB17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB17 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
ProtoNet:

Suggested Antigen Peptide Sequences for RAB17 Gene

GenScript: Design optimal peptide antigens:
  • RAB17 protein (Q6FIH2_HUMAN)
  • Ras-related protein Rab-17 (RAB17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0T7

UniProtKB/Swiss-Prot:

RAB17_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB17: view

Function for RAB17 Gene

Molecular function for RAB17 Gene

UniProtKB/Swiss-Prot Function:
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post-endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development (By similarity). May also play a role in cell migration.
UniProtKB/Swiss-Prot Induction:
Up-regulated by forskolin probably through the transcription factor MITF.

Phenotypes From GWAS Catalog for RAB17 Gene

Gene Ontology (GO) - Molecular Function for RAB17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 17646400
GO:0005515 protein binding IPI 17646400
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IDA 20937701
genes like me logo Genes that share ontologies with RAB17: view
genes like me logo Genes that share phenotypes with RAB17: view

Animal Models for RAB17 Gene

MGI Knock Outs for RAB17:
  • Rab17 Rab17<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB17

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB17 Gene

Localization for RAB17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB17 Gene

Recycling endosome membrane. Lipid-anchor. Cytoplasmic side. Melanosome. Cell projection, dendrite. Note=May also localize at the basolateral and apical plasma membrane. In neurons, localizes to the cell body and dendritic shaft and spine. {ECO:0000250 UniProtKB:P35292}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB17 gene
Compartment Confidence
plasma membrane 4
extracellular 4
endosome 4
mitochondrion 3
cytosol 2
golgi apparatus 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RAB17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005623 cell IEA --
GO:0005768 endosome IEA,IBA 21873635
GO:0005769 early endosome IBA 21873635
GO:0005886 plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with RAB17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB17 Gene

Pathways & Interactions for RAB17 Gene

genes like me logo Genes that share pathways with RAB17: view

Pathways by source for RAB17 Gene

1 Sino Biological pathway for RAB17 Gene
1 Qiagen pathway for RAB17 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002415 immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor ISS --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006897 endocytosis IBA 21873635
GO:0015031 protein transport IEA --
GO:0030100 regulation of endocytosis IBA 21873635
genes like me logo Genes that share ontologies with RAB17: view

No data available for SIGNOR curated interactions for RAB17 Gene

Drugs & Compounds for RAB17 Gene

No Compound Related Data Available

Transcripts for RAB17 Gene

mRNA/cDNA for RAB17 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB17

Alternative Splicing Database (ASD) splice patterns (SP) for RAB17 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: - -
SP7:

Relevant External Links for RAB17 Gene

GeneLoc Exon Structure for
RAB17

Expression for RAB17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB17 Gene

This gene is overexpressed in Liver (x15.2) and Kidney - Cortex (x8.0).

Protein differential expression in normal tissues from HIPED for RAB17 Gene

This gene is overexpressed in Cervix (28.6), Fetal Brain (9.0), Urine (8.4), and Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB17 Gene



Protein tissue co-expression partners for RAB17 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB17

SOURCE GeneReport for Unigene cluster for RAB17 Gene:

Hs.44278

mRNA Expression by UniProt/SwissProt for RAB17 Gene:

Q9H0T7-RAB17_HUMAN
Tissue specificity: Expressed in melanocytes (at protein level).

Evidence on tissue expression from TISSUES for RAB17 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Intestine(4.3)
  • Eye(4.2)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with RAB17: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB17 Gene

Orthologs for RAB17 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB17 30 31
  • 98.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB17 30 31
  • 81.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab17 30
  • 79.15 (n)
Mouse
(Mus musculus)
Mammalia Rab17 30 17 31
  • 77.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB17 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB17 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RAB17 30 31
  • 64.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB17 31
  • 52 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta chrw 31
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToMany
Species where no ortholog for RAB17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for RAB17 Gene

ENSEMBL:
Gene Tree for RAB17 (if available)
TreeFam:
Gene Tree for RAB17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB17: view image

Paralogs for RAB17 Gene

genes like me logo Genes that share paralogs with RAB17: view

Variants for RAB17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB17 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs2280289 - p.Leu191Pro
rs34311889 - p.Ser184Gly
rs3751112 - p.Val19Ala

Additional dbSNP identifiers (rs#s) for RAB17 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAB17 Gene

Variant ID Type Subtype PubMed ID
dgv4192n100 CNV loss 25217958
esv28512 CNV loss 19812545
nsv1000252 CNV loss 25217958
nsv1010093 CNV gain 25217958
nsv3229 CNV deletion 18451855

Variation tolerance for RAB17 Gene

Residual Variation Intolerance Score: 69.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB17

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB17 Gene

Disorders for RAB17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB17 Gene - From: DISEASES

Disorder Aliases PubMed IDs
carpenter syndrome 1
  • crpt1
- elite association - COSMIC cancer census association via MalaCards
Search RAB17 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RAB17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB17 Gene

Publications for RAB17 Gene

  1. ERK2 drives tumour cell migration in three-dimensional microenvironments by suppressing expression of Rab17 and liprin-β2. (PMID: 22328529) von Thun A … Norman JC (Journal of cell science 2012) 3 4
  2. The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking. (PMID: 21291502) Beaumont KA … Stow JL (Traffic (Copenhagen, Denmark) 2011) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for RAB17 Gene

  • Signalway Proteins for RAB17

Sources for RAB17 Gene