Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010] See more...

Aliases for RAB5C Gene

Aliases for RAB5C Gene

  • RAB5C, Member RAS Oncogene Family 2 3 5
  • RAB5C, Member Of RAS Oncogene Family 2 3
  • Ras-Related Protein Rab-5C 3 4
  • L1880 3 4
  • RAB5L 3 4
  • RABL 3 4
  • RAB, Member Of RAS Oncogene Family-Like 2
  • RAB5CL 3

External Ids for RAB5C Gene

Previous HGNC Symbols for RAB5C Gene

  • RABL

Previous GeneCards Identifiers for RAB5C Gene

  • GC17M039830
  • GC17M042432
  • GC17M040185
  • GC17M040650
  • GC17M037530
  • GC17M040276
  • GC17M036043

Summaries for RAB5C Gene

Entrez Gene Summary for RAB5C Gene

  • Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]

GeneCards Summary for RAB5C Gene

RAB5C (RAB5C, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Phagosome. 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 RAB5C Gene

  • Protein transport. Probably involved in vesicular traffic (By similarity).

Gene Wiki entry for RAB5C Gene

Additional gene information for RAB5C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB5C Gene

Genomics for RAB5C Gene

GeneHancer (GH) Regulatory Elements for RAB5C Gene

Promoters and enhancers for RAB5C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042152 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.4 440 3.6 SP1 ZBTB40 SIX5 RBPJ POLR2A CREB1 HCFC1 ZNF362 NFYC ELF1 ENSG00000267658 ENSG00000267261 LOC105371781 RAB5C lnc-KCNH4-1 ENSG00000267758 KLHL10 HMGN1P29 NKIRAS2 KAT2A
GH17J042156 Enhancer 0.3 Ensembl 750.6 -1.9 -1857 0.2 PRDM10 SCRT2 ENSG00000267261 RAB5C lnc-KCNH4-1 LOC105371781 KCNH4
GH17J042125 Promoter 0.3 EPDnew 750.3 +29.4 29357 0.1 RAB5C piR-30173 ENSG00000267261 LOC105371781
GH17J042192 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 -38.9 -38903 2.3 SP1 ZBTB40 MLX SMARCE1 RBPJ POLR2A USF2 CREB1 HCFC1 ELF1 GHDC lnc-HSPB9-1 lnc-STAT5B-1 ENSG00000267758 HMGN1P29 CAVIN1 RETREG3 AOC3 RPL27 RAB5C
GH17J042515 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 -367.2 -367163 12.8 SIN3A CTCF ZBTB6 MLX RBPJ SMARCE1 POLR2A USF2 NR2F1 NR2F6 lnc-NAGLU-6 lnc-PSMC3IP-4 ENSG00000267340 MLX TUBG2 ENSG00000267002 CAVIN1 NAGLU DHX8 RAB5C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB5C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB5C gene promoter:
  • COUP-TF
  • E47
  • Hand1
  • HTF
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)

Genomic Locations for RAB5C Gene

Genomic Locations for RAB5C Gene
chr17:42,124,976-42,155,044
(GRCh38/hg38)
Size:
30,069 bases
Orientation:
Minus strand
chr17:40,276,994-40,307,035
(GRCh37/hg19)
Size:
30,042 bases
Orientation:
Minus strand

Genomic View for RAB5C Gene

Genes around RAB5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB5C Gene

Proteins for RAB5C Gene

  • Protein details for RAB5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51148-RAB5C_HUMAN
    Recommended name:
    Ras-related protein Rab-5C
    Protein Accession:
    P51148
    Secondary Accessions:
    • F8W1H5
    • Q6FH55
    • Q9P0Y5

    Protein attributes for RAB5C Gene

    Size:
    216 amino acids
    Molecular mass:
    23483 Da
    Quaternary structure:
    • Interacts with EEA1 (PubMed:12493736). Interacts with INCA1 (PubMed:21750715). Interacts with GDI1, GDI2, CHML and CHM; phosphorylation at Ser-85 disrupts this interaction (PubMed:29125462).

    Three dimensional structures from OCA and Proteopedia for RAB5C Gene

    Alternative splice isoforms for RAB5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB5C Gene

Post-translational modifications for RAB5C Gene

  • Phosphorylation of Ser-85 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2.
  • Ubiquitination at Lys135
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAB5C Gene

Domains & Families for RAB5C Gene

Gene Families for RAB5C Gene

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

Protein Domains for RAB5C Gene

Suggested Antigen Peptide Sequences for RAB5C Gene

GenScript: Design optimal peptide antigens:
  • RAB5L (RAB5C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51148

UniProtKB/Swiss-Prot:

RAB5C_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 RAB5C: view

Function for RAB5C Gene

Molecular function for RAB5C Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Probably involved in vesicular traffic (By similarity).
GENATLAS Biochemistry:
RAB5C,Ras oncogene superfamily member,involved in endocytosis

Phenotypes From GWAS Catalog for RAB5C Gene

Gene Ontology (GO) - Molecular Function for RAB5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS,IDA 17562788
GO:0005515 protein binding IPI 17562788
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IDA 20937701
genes like me logo Genes that share ontologies with RAB5C: view
genes like me logo Genes that share phenotypes with RAB5C: view

Animal Models for RAB5C Gene

MGI Knock Outs for RAB5C:
  • Rab5c Rab5c<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RAB5C Gene

miRTarBase miRNAs that target RAB5C

Clone Products

  • Addgene plasmids for RAB5C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB5C Gene

Localization for RAB5C Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB5C Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Early endosome membrane; Lipid-anchor. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

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 RAB5C gene
Compartment Confidence
endosome 4
lysosome 4
plasma membrane 3
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IBA,IDA --
GO:0005769 early endosome IBA 21873635
GO:0005811 lipid droplet IDA 14741744
GO:0005886 plasma membrane TAS,IBA --
genes like me logo Genes that share ontologies with RAB5C: view

Pathways & Interactions for RAB5C Gene

genes like me logo Genes that share pathways with RAB5C: view

Pathways by source for RAB5C Gene

3 Qiagen pathways for RAB5C Gene
  • Epithelial Tight Junctions
  • Remodeling of Adherens Junctions
  • SMAD Signaling Network

Gene Ontology (GO) - Biological Process for RAB5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0030100 regulation of endocytosis IBA 21873635
GO:0032482 Rab protein signal transduction IBA 21873635
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with RAB5C: view

No data available for SIGNOR curated interactions for RAB5C Gene

Drugs & Compounds for RAB5C Gene

No Compound Related Data Available

Transcripts for RAB5C Gene

CRISPR Products

Clone Products

  • Addgene plasmids for RAB5C

Alternative Splicing Database (ASD) splice patterns (SP) for RAB5C Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - -
SP5: - - - - - - - - - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - -
SP9: -
SP10: - - - - - - -
SP11: - - - - - -
SP12: - - - - - - -
SP13: -

Relevant External Links for RAB5C Gene

GeneLoc Exon Structure for
RAB5C
ECgene alternative splicing isoforms for
RAB5C

Expression for RAB5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB5C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB5C Gene

This gene is overexpressed in Nasal epithelium (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB5C Gene



Protein tissue co-expression partners for RAB5C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB5C Gene:

RAB5C

SOURCE GeneReport for Unigene cluster for RAB5C Gene:

Hs.650382

Evidence on tissue expression from TISSUES for RAB5C Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Skin(3.5)
  • Kidney(2.6)
  • Intestine(2.2)
  • Liver(2.2)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with RAB5C: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB5C Gene

Orthologs for RAB5C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB5C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB5C 33 32
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAB5C 33 32
  • 95.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAB5C 33 32
  • 95.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab5c 32
  • 92.9 (n)
mouse
(Mus musculus)
Mammalia Rab5c 17 33 32
  • 91.51 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB5C 33
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB5C 33 32
  • 83.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB5C 33
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab5c 32
  • 79.94 (n)
Str.10122 32
African clawed frog
(Xenopus laevis)
Amphibia rab5-prov 32
zebrafish
(Danio rerio)
Actinopterygii rab5c 33 32
  • 78.66 (n)
OneToOne
wufj38g08 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.217 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007901 32
  • 73.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab5 33 34 32
  • 66.97 (n)
OneToMany
chrw 34
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea rab-5 33
  • 77 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS21 33
  • 53 (a)
ManyToMany
YPT53 33
  • 45 (a)
ManyToMany
YPT52 35
soybean
(Glycine max)
eudicotyledons Gma.6207 32
wheat
(Triticum aestivum)
Liliopsida Ta.222 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11163 33
  • 69 (a)
OneToMany
Species where no ortholog for RAB5C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAB5C Gene

ENSEMBL:
Gene Tree for RAB5C (if available)
TreeFam:
Gene Tree for RAB5C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB5C: view image

Paralogs for RAB5C Gene

Pseudogenes.org Pseudogenes for RAB5C Gene

genes like me logo Genes that share paralogs with RAB5C: view

Variants for RAB5C Gene

Sequence variations from dbSNP and Humsavar for RAB5C Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1280509335 A colorectal cancer sample 42,130,384(-) C/A/T coding_sequence_variant, missense_variant
rs1000011607 -- 42,136,637(-) G/A intron_variant
rs1000031940 -- 42,143,955(-) T/G intron_variant
rs1000176774 -- 42,143,356(-) G/A intron_variant
rs1000265129 -- 42,131,332(-) AAAAAA/AAAAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RAB5C Gene

Variant ID Type Subtype PubMed ID
esv1008006 CNV insertion 20482838
esv3410902 CNV duplication 20981092
esv3640600 CNV loss 21293372
nsv1056904 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv953898 CNV deletion 24416366

Variation tolerance for RAB5C Gene

Residual Variation Intolerance Score: 70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB5C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB5C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB5C Gene

Disorders for RAB5C Gene

Additional Disease Information for RAB5C

No disorders were found for RAB5C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB5C Gene

Publications for RAB5C Gene

  1. Isolation and mapping of a human gene (RABL) encoding a small GTP-binding protein homologous to the Ras-related RAB gene. (PMID: 8646882) Han HJ … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4 23 56
  2. The inhibitor of growth protein 5 (ING5) depends on INCA1 as a co-factor for its antiproliferative effects. (PMID: 21750715) Zhang F … Müller-Tidow C (PloS one 2011) 3 4 56
  3. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4 56
  4. Determinants of Rab5 interaction with the N terminus of early endosome antigen 1. (PMID: 12493736) Merithew E … Lambright DG (The Journal of biological chemistry 2003) 3 4 56
  5. Deviant expression of Rab5 on phagosomes containing the intracellular pathogens Mycobacterium tuberculosis and Legionella pneumophila is associated with altered phagosomal fate. (PMID: 10768959) Clemens DL … Horwitz MA (Infection and immunity 2000) 3 4 56

Products for RAB5C Gene

Sources for RAB5C Gene