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Aliases for RAB40C Gene

Aliases for RAB40C Gene

  • RAB40C, Member RAS Oncogene Family 2 3 5
  • Ras-Like Protein Family Member 8C 3 4
  • SOCS Box-Containing Protein RAR3 3 4
  • RAS-Like, Family 8, Member C 2 3
  • Rar-Like Protein 3 4
  • RASL8C 3 4
  • RARL 3 4
  • Ras-Related Protein Rab-40C 3
  • RAR (RAS Like GTPASE) Like 3
  • Ras-Like GTPase 3
  • RAR Like 3

External Ids for RAB40C Gene

Previous HGNC Symbols for RAB40C Gene

  • RASL8C

Previous GeneCards Identifiers for RAB40C Gene

  • GC16P000659
  • GC16P000580
  • GC16P000561
  • GC16P000657
  • GC16P000664
  • GC16P000669
  • GC16P000672
  • GC16P000675
  • GC16P000677
  • GC16P000684

Summaries for RAB40C Gene

GeneCards Summary for RAB40C Gene

RAB40C (RAB40C, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are RAB geranylgeranylation and Metabolism of proteins. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB40B.

UniProtKB/Swiss-Prot for RAB40C Gene

  • Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Additional gene information for RAB40C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB40C Gene

Genomics for RAB40C Gene

Regulatory Elements for RAB40C Gene

Enhancers for RAB40C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H000586 1.7 FANTOM5 ENCODE dbSUPER 20.7 +1.8 1775 8 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 WDR90 ENSG00000260051 WFIKKN1 ENSG00000261505 WDR24 WASH4P RHOT2 TELO2 UBE2I ENSG00000260954
GH16H000620 1.4 Ensembl ENCODE dbSUPER 18.2 +32.7 32673 2 HDAC1 HDGF PKNOX1 ATF1 RB1 NFRKB SIN3A RAD21 RFX5 EGR1 WFIKKN1 RAB40C METTL26 FBXL16 GC16M000614
GH16H000628 1.4 Ensembl ENCODE dbSUPER 18.2 +42.3 42307 6 ARID4B YY1 GLIS2 SP3 SP5 ZNF623 ZNF592 ZNF610 GLIS1 MXD3 WFIKKN1 RAB40C RHBDL1 NARFL METTL26
GH16H000611 1.2 Ensembl ENCODE dbSUPER 18.9 +21.8 21820 0 CTCF MXI1 SAP130 ARID4B DMAP1 RAD21 GATAD1 SMC3 ZNF143 NR2F6 WFIKKN1 RAB40C METTL26 NHLRC4 PIGQ WDR90 LOC105371038 PRR35 PIR61406 GC16P000603
GH16H000577 1.5 Ensembl ENCODE dbSUPER 14.6 -10.5 -10461 2 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 TCF12 CBX5 GATA2 ZNF143 WFIKKN1 RAB40C METTL26 GC16P000587 ENSG00000282907
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB40C on UCSC Golden Path with GeneCards custom track

Promoters for RAB40C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082210 243 2401 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207

Genomic Location for RAB40C Gene

Chromosome:
16
Start:
589,357 bp from pter
End:
629,273 bp from pter
Size:
39,917 bases
Orientation:
Plus strand

Genomic View for RAB40C Gene

Genes around RAB40C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB40C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB40C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB40C Gene

Proteins for RAB40C Gene

  • Protein details for RAB40C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S21-RB40C_HUMAN
    Recommended name:
    Ras-related protein Rab-40C
    Protein Accession:
    Q96S21
    Secondary Accessions:
    • A2IDE2
    • D3DU54
    • O60795
    • Q4TT41
    • Q5PXE8
    • Q6PIU5

    Protein attributes for RAB40C Gene

    Size:
    281 amino acids
    Molecular mass:
    31304 Da
    Quaternary structure:
    • Component of the probable SCF-like ECS(RAB40C) E3 ubiquitin-protein ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and RAB40C. Interacts with CUL5, RNF7, ELOB and ELOC.

    Alternative splice isoforms for RAB40C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB40C Gene

Post-translational modifications for RAB40C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB40C Gene

Domains & Families for RAB40C Gene

Gene Families for RAB40C Gene

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

Suggested Antigen Peptide Sequences for RAB40C Gene

Graphical View of Domain Structure for InterPro Entry

Q96S21

UniProtKB/Swiss-Prot:

RB40C_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
  • Belongs to the small GTPase superfamily. Rab family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB40C: view

Function for RAB40C Gene

Molecular function for RAB40C Gene

UniProtKB/Swiss-Prot Function:
Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Phenotypes From GWAS Catalog for RAB40C Gene

Gene Ontology (GO) - Molecular Function for RAB40C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IEA --
genes like me logo Genes that share ontologies with RAB40C: view
genes like me logo Genes that share phenotypes with RAB40C: view

Animal Models for RAB40C Gene

MGI Knock Outs for RAB40C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB40C Gene

Localization for RAB40C Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB40C Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

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 RAB40C gene
Compartment Confidence
endosome 4
plasma membrane 3
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAB40C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005768 endosome IBA --
GO:0005886 plasma membrane IBA --
GO:0008021 synaptic vesicle IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB40C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB40C Gene

Pathways & Interactions for RAB40C Gene

genes like me logo Genes that share pathways with RAB40C: view

Pathways by source for RAB40C Gene

UniProtKB/Swiss-Prot Q96S21-RB40C_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RAB40C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006904 NOT vesicle docking involved in exocytosis IBA --
GO:0009306 NOT protein secretion IBA --
GO:0016567 protein ubiquitination IEA --
GO:0017157 NOT regulation of exocytosis IBA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with RAB40C: view

No data available for SIGNOR curated interactions for RAB40C Gene

Drugs & Compounds for RAB40C Gene

No Compound Related Data Available

Transcripts for RAB40C Gene

Unigene Clusters for RAB40C Gene

RAB40C, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB40C Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - -
SP6: - - -
SP7:

Relevant External Links for RAB40C Gene

GeneLoc Exon Structure for
RAB40C
ECgene alternative splicing isoforms for
RAB40C

Expression for RAB40C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB40C Gene

Protein differential expression in normal tissues from HIPED for RAB40C Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (61.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RAB40C Gene



Protein tissue co-expression partners for RAB40C Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB40C Gene:

RAB40C

SOURCE GeneReport for Unigene cluster for RAB40C Gene:

Hs.459630

Evidence on tissue expression from TISSUES for RAB40C Gene

  • Nervous system(4.6)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with RAB40C: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB40C Gene

Orthologs for RAB40C Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB40C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB40C 33 34
  • 99.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB40C 34
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB40C 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB40C 33 34
  • 92.76 (n)
dog
(Canis familiaris)
Mammalia RAB40C 33
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Rab40c 33 16 34
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Rab40c 33
  • 90.04 (n)
chicken
(Gallus gallus)
Aves RAB40C 33 34
  • 88.26 (n)
lizard
(Anolis carolinensis)
Reptilia RAB40C 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab40c 33
  • 82.09 (n)
zebrafish
(Danio rerio)
Actinopterygii rab40c 33 33 34
  • 82.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab40 33 34
  • 67.41 (n)
CG1900 35
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000841 33
  • 67.1 (n)
Species where no ortholog for RAB40C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAB40C Gene

ENSEMBL:
Gene Tree for RAB40C (if available)
TreeFam:
Gene Tree for RAB40C (if available)

Paralogs for RAB40C Gene

Variants for RAB40C Gene

Sequence variations from dbSNP and Humsavar for RAB40C Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000023736 -- 628,609(+) GCCTC(A/G)GGAGG utr-variant-3-prime
rs1000073617 -- 596,775(+) CAGGA(A/G)CTGGG intron-variant, nc-transcript-variant
rs1000090107 -- 588,419(+) CTACT(A/C)GGGAG upstream-variant-2KB
rs1000092192 -- 591,907(+) TTGTT(A/T)TTAAC intron-variant
rs1000125711 -- 603,721(+) ATCCA(A/G)ATCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB40C Gene

Variant ID Type Subtype PubMed ID
dgv334n27 CNV loss 19166990
dgv4823n54 CNV loss 21841781
dgv4824n54 CNV loss 21841781
esv1254347 CNV insertion 17803354
esv1293738 CNV deletion 17803354
esv1430130 CNV insertion 17803354
esv2422427 CNV duplication 17116639
esv2446759 CNV deletion 19546169
esv27398 CNV loss 19812545
esv2750213 CNV deletion 23290073
nsv1040486 CNV gain 25217958
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457304 CNV gain 19166990
nsv471063 CNV loss 18288195
nsv471064 CNV gain 18288195
nsv516590 CNV loss 19592680
nsv526903 CNV loss 19592680
nsv528354 CNV loss 19592680
nsv570988 CNV gain 21841781
nsv571012 CNV loss 21841781
nsv571015 CNV loss 21841781
nsv821458 CNV deletion 20802225
nsv833113 CNV loss 17160897
nsv833114 CNV gain+loss 17160897
nsv952898 CNV deletion 24416366

Variation tolerance for RAB40C Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB40C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB40C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB40C Gene

Disorders for RAB40C Gene

Relevant External Links for RAB40C

Genetic Association Database (GAD)
RAB40C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB40C

No disorders were found for RAB40C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB40C Gene

Publications for RAB40C Gene

  1. Rab GTPases and their roles in brain neurons and glia. (PMID: 18485483) Ng EL … Tang BL (Brain research reviews 2008) 2 3 60
  2. Identification of ten loci associated with height highlights new biological pathways in human growth. (PMID: 18391950) Lettre G … Hirschhorn JN (Nature genetics 2008) 3 45 60
  3. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4 60
  4. VHL-box and SOCS-box domains determine binding specificity for Cul2-Rbx1 and Cul5-Rbx2 modules of ubiquitin ligases. (PMID: 15601820) Kamura T … Nakayama KI (Genes & development 2004) 3 4 60
  5. Evolution of the Rab family of small GTP-binding proteins. (PMID: 11697911) Pereira-Leal JB … Seabra MC (Journal of molecular biology 2001) 2 3 60

Products for RAB40C Gene

Sources for RAB40C Gene

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