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
  • RAB5CL 2 3
  • L1880 3 4
  • RAB5L 3 4
  • RABL 3 4
  • RAB, Member Of RAS Oncogene Family-Like 2
  • RAB5C 5

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. Diseases associated with RAB5C include Argentine Hemorrhagic Fever. Among its related pathways are Ras signaling pathway and Remodeling of Adherens Junctions. 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

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 Pubs

Promoters and enhancers for RAB5C 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 RAB5C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB5C

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

Latest Assembly
chr17:42,124,978-42,155,044
(GRCh38/hg38)
Size:
30,067 bases
Orientation:
Minus strand

Previous Assembly
chr17:40,276,997-40,307,007
(GRCh37/hg19 by Entrez Gene)
Size:
30,011 bases
Orientation:
Minus strand

chr17:40,276,994-40,307,035
(GRCh37/hg19 by Ensembl)
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

Antibodies for research

  • Abcam antibodies for RAB5C

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

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

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:0000166 nucleotide binding IEA --
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>

miRNA for RAB5C Gene

miRTarBase miRNAs that target RAB5C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
plasma membrane 4
extracellular 4
endosome 4
lysosome 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 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 --
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

SIGNOR curated interactions for RAB5C Gene

Activates:

Gene Ontology (GO) - Biological Process for RAB5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006897 endocytosis IBA 21873635
GO:0015031 protein transport IEA --
GO:0030100 regulation of endocytosis IBA 21873635
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with RAB5C: view

Drugs & Compounds for RAB5C Gene

No Compound Related Data Available

Transcripts for RAB5C Gene

mRNA/cDNA for RAB5C Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Expression for RAB5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Skin(3.9)
  • Kidney(3.2)
  • Liver(2.7)
  • Intestine(2.7)
  • Stomach(2.5)
  • Muscle(2.4)
  • Blood(2.4)
  • Spleen(2.3)
  • Heart(2.3)
  • Bone marrow(2.3)
  • Eye(2.2)
  • Lymph node(2.2)
  • Thyroid gland(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 29 30
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB5C 29 30
  • 95.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB5C 29 30
  • 95.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab5c 29
  • 92.9 (n)
Mouse
(Mus musculus)
Mammalia Rab5c 29 16 30
  • 91.51 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB5C 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB5C 29 30
  • 83.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB5C 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab5c 29
  • 79.94 (n)
Str.10122 29
African clawed frog
(Xenopus laevis)
Amphibia rab5-prov 29
Zebrafish
(Danio rerio)
Actinopterygii rab5c 29 30
  • 78.66 (n)
OneToOne
wufj38g08 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.217 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007901 29
  • 73.52 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rab5 29 30 31
  • 66.97 (n)
OneToMany
chrw 31
  • 41 (a)
Worm
(Caenorhabditis elegans)
Secernentea rab-5 30
  • 77 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS21 30
  • 53 (a)
ManyToMany
YPT53 30
  • 45 (a)
ManyToMany
YPT52 32
Soybean
(Glycine max)
eudicotyledons Gma.6207 29
Wheat
(Triticum aestivum)
Liliopsida Ta.222 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11163 30
  • 69 (a)
OneToMany
Species where no ortholog for RAB5C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for RAB5C

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB5C Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs128050933 A colorectal cancer sample p.Arg40His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB5C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
RAB5C

SNP Genotyping and Copy Number Assays for research

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

Disorders for RAB5C Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB5C Gene - From: COP

Disorder Aliases PubMed IDs
argentine hemorrhagic fever
  • argentinian hemorrhagic fever
- elite association - COSMIC cancer census association via MalaCards
Search RAB5C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB5C

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

No data available for 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 22
  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
  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
  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
  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

Products for RAB5C Gene

Sources for RAB5C Gene