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
  • Ras-Related Protein Rab-40C 3 4
  • Rar-Like Protein 3 4
  • RASL8C 3 4
  • RARL 3 4
  • 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
  • GC16P000590
  • GC16P000591
  • GC16P000592

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. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB40B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for RAB40C Gene

Genomics for RAB40C Gene

GeneHancer (GH) Regulatory Elements for RAB40C Gene

Promoters and enhancers for RAB40C 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 RAB40C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB40C gene promoter:
  • AML1a
  • ATF
  • HEN1
  • LUN-1
  • NCX
  • NRSF form 1
  • NRSF form 2
  • YY1

Genomic Locations for RAB40C Gene

Genomic Locations for RAB40C Gene
chr16:589,357-629,273
(GRCh38/hg38)
Size:
39,917 bases
Orientation:
Plus strand
chr16:639,357-679,273
(GRCh37/hg19)
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

GenScript: Design optimal peptide antigens:
  • RAR-like GTPase variant (Q5PXE8_HUMAN)
  • RAB40C, member RAS oncogene family (Q6PIU5_HUMAN)
  • SOCS box-containing protein RAR3 (RB40C_HUMAN)

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:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
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:
  • Rab40c Rab40c<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone 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
plasma membrane 3
cytosol 3
golgi apparatus 3
endosome 1
extracellular 0
mitochondrion 0
nucleus 0
lysosome 0

Gene Ontology (GO) - Cellular Components for RAB40C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0048471 perinuclear region of cytoplasm 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:0006886 intracellular protein transport IBA 21873635
GO:0016567 protein ubiquitination IEA --
GO:0032482 Rab protein signal transduction IBA 21873635
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

CRISPR Products

Clone 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 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

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 32
  • 99.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB40C 33
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB40C 33
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB40C 33 32
  • 92.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAB40C 32
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Rab40c 17 33 32
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Rab40c 32
  • 90.04 (n)
chicken
(Gallus gallus)
Aves RAB40C 33 32
  • 88.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB40C 33
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab40c 32
  • 82.09 (n)
zebrafish
(Danio rerio)
Actinopterygii rab40c 33 32 32
  • 82.08 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rab40 33 32
  • 67.41 (n)
OneToMany
CG1900 34
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000841 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB40C: view image

Paralogs for RAB40C Gene

(68) SIMAP similar genes for RAB40C Gene using alignment to 10 proteins:

  • RB40C_HUMAN
  • H3BME4_HUMAN
  • H3BMH4_HUMAN
  • H3BNV8_HUMAN
  • H3BPA5_HUMAN
  • H3BPB1_HUMAN
  • H3BTC6_HUMAN
  • H3BUX0_HUMAN
  • Q5PXE8_HUMAN
  • Q6PIU5_HUMAN
genes like me logo Genes that share paralogs with RAB40C: view

Variants for RAB40C Gene

Sequence variations from dbSNP and Humsavar for RAB40C Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000023736 -- 628,609(+) G/A 3_prime_UTR_variant
rs1000073617 -- 596,775(+) G/A intron_variant
rs1000090107 -- 588,419(+) C/A upstream_transcript_variant
rs1000092192 -- 591,907(+) T/A intron_variant
rs1000125711 -- 603,721(+) A/G 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)

Additional Variant Information 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

Additional Disease Information for 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. Identification of ten loci associated with height highlights new biological pathways in human growth. (PMID: 18391950) Lettre G … Hirschhorn JN (Nature genetics 2008) 3 43 56
  2. Rab GTPases and their roles in brain neurons and glia. (PMID: 18485483) Ng EL … Tang BL (Brain research reviews 2008) 2 3 56
  3. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4 56
  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 56
  5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 56

Products for RAB40C Gene

Sources for RAB40C Gene