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Aliases for RAB43 Gene

Aliases for RAB43 Gene

  • RAB43, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-41 3 4
  • RAB41 3 4
  • Ras-Related Protein Rab-43 3
  • RAB11B 3

External Ids for RAB43 Gene

Previous GeneCards Identifiers for RAB43 Gene

  • GC03M130130
  • GC03M130128
  • GC03M130289
  • GC03M128806
  • GC03M126192

Summaries for RAB43 Gene

GeneCards Summary for RAB43 Gene

RAB43 (RAB43, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are RAB geranylgeranylation and Golgi-to-ER retrograde transport. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB19.

UniProtKB/Swiss-Prot for RAB43 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. The low intrinsic GTPase activity of RAB43 is activated by USP6NL. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for the structural integrity of the Golgi complex. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.

Additional gene information for RAB43 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 RAB43 Gene

Genomics for RAB43 Gene

Regulatory Elements for RAB43 Gene

Enhancers for RAB43 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
GH03H129223 2 FANTOM5 Ensembl ENCODE dbSUPER 23.7 -107.0 -106997 12 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 YY1 FOS KIAA1257 RAB43 CNBP GP9 ISY1 HMCES MBD4 RPL32P3 ACAD9 POU5F1P6
GH03H129116 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +2.7 2722 7 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 SP3 KIAA1257 ISY1 GP9 RAB43 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03H129024 1.5 Ensembl ENCODE dbSUPER 11.4 +96.4 96426 2 ATF1 SIN3A GLIS2 ELK1 ZNF143 ZNF207 FOS ATF7 NFYC REST EFCC1 GP9 CNBP RAB43 KIAA1257 PIR62024
GH03H129050 1.5 Ensembl ENCODE dbSUPER 11.1 +69.5 69498 4 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 TCF12 GLIS2 GATA2 ZNF143 KIAA1257 ISY1 EFCC1 RAB43 CNBP RAB7A RPL32P3 GP9 LOC100130760
GH03H129013 1.4 Ensembl ENCODE dbSUPER 11.1 +106.6 106633 5 HDAC1 PKNOX1 ATF1 FOXA2 TBL1XR1 ARNT ZBTB40 TCF12 ZNF766 GATA2 GP9 RAB43 ISY1 ACAD9 RAB7A LOC653712 PIR62024 KIAA1257
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB43 on UCSC Golden Path with GeneCards custom track

Promoters for RAB43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158190 1601 2401 HDGF MLX ARID4B SIN3A ZBTB7B YY1 ETS1 TCF12 GLIS2 ELK1

Genomic Location for RAB43 Gene

Chromosome:
3
Start:
129,087,569 bp from pter
End:
129,122,801 bp from pter
Size:
35,233 bases
Orientation:
Minus strand

Genomic View for RAB43 Gene

Genes around RAB43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB43 Gene

Proteins for RAB43 Gene

  • Protein details for RAB43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YS6-RAB43_HUMAN
    Recommended name:
    Ras-related protein Rab-43
    Protein Accession:
    Q86YS6
    Secondary Accessions:
    • A8K4P9
    • E9PBQ0

    Protein attributes for RAB43 Gene

    Size:
    212 amino acids
    Molecular mass:
    23339 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB43 Gene

    Alternative splice isoforms for RAB43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB43 Gene

Post-translational modifications for RAB43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB43 Gene

Domains & Families for RAB43 Gene

Gene Families for RAB43 Gene

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

Suggested Antigen Peptide Sequences for RAB43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86YS6

UniProtKB/Swiss-Prot:

RAB43_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 RAB43: view

Function for RAB43 Gene

Molecular function for RAB43 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. The low intrinsic GTPase activity of RAB43 is activated by USP6NL. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for the structural integrity of the Golgi complex. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.

Phenotypes From GWAS Catalog for RAB43 Gene

Gene Ontology (GO) - Molecular Function for RAB43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 17562788
GO:0005515 protein binding IPI 17562788
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB43: view
genes like me logo Genes that share phenotypes with RAB43: view

Animal Models for RAB43 Gene

MGI Knock Outs for RAB43:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RAB43
  • Applied Biological Materials Clones for RAB43
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB43 Gene

Localization for RAB43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB43 Gene

Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Golgi apparatus, trans-Golgi network membrane; Lipid-anchor. Golgi apparatus, trans-Golgi network. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269 PubMed:21255211}.

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 RAB43 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA --
GO:0005794 Golgi apparatus IEA,IDA 17562788
GO:0016020 membrane IEA --
GO:0030670 phagocytic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with RAB43: view

Pathways & Interactions for RAB43 Gene

genes like me logo Genes that share pathways with RAB43: view

Gene Ontology (GO) - Biological Process for RAB43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 17684057
GO:0019068 virion assembly IMP 21680502
GO:0035526 retrograde transport, plasma membrane to Golgi IMP 17562788
GO:0090382 phagosome maturation IMP 21255211
GO:1901998 toxin transport IEA --
genes like me logo Genes that share ontologies with RAB43: view

No data available for SIGNOR curated interactions for RAB43 Gene

Drugs & Compounds for RAB43 Gene

No Compound Related Data Available

Transcripts for RAB43 Gene

Unigene Clusters for RAB43 Gene

RAB43, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RAB43
  • Applied Biological Materials Clones for RAB43
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RAB43 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e
SP1: - -
SP2: - - - -
SP3: -
SP4: - - -
SP5: - - -
SP6:

Relevant External Links for RAB43 Gene

GeneLoc Exon Structure for
RAB43
ECgene alternative splicing isoforms for
RAB43

Expression for RAB43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB43 Gene

This gene is overexpressed in Whole Blood (x9.3) and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for RAB43 Gene

This gene is overexpressed in Testis (15.2), Uterus (13.2), Skin (11.5), and Fetal ovary (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB43 Gene



NURSA nuclear receptor signaling pathways regulating expression of RAB43 Gene:

RAB43

SOURCE GeneReport for Unigene cluster for RAB43 Gene:

Hs.381132

mRNA Expression by UniProt/SwissProt for RAB43 Gene:

Q86YS6-RAB43_HUMAN
Tissue specificity: Widely expressed in brain, testis, lung, heart, ovary, colon, kidney, uterus and spleen but not in liver.

Evidence on tissue expression from TISSUES for RAB43 Gene

  • Nervous system(4.5)
  • Eye(4)
genes like me logo Genes that share expression patterns with RAB43: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB43 Gene

Orthologs for RAB43 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB43 33
  • 99.53 (n)
-- 34
  • 31 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia RAB43 33 34
  • 91.51 (n)
mouse
(Mus musculus)
Mammalia Rab43 33 16 34
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Rab43 33
  • 89.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB43 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB43 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB43 33 34
  • 81 (n)
lizard
(Anolis carolinensis)
Reptilia RAB43 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.77 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10742 33
zebrafish
(Danio rerio)
Actinopterygii zgc:153788 33
  • 72.67 (n)
RAB43 34
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007096 33
  • 65.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rab19 33
  • 62.39 (n)
Rab-RP3 34
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rab-19 33 34
  • 53.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Species where no ortholog for RAB43 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)
  • 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)
  • cow (Bos Taurus)
  • 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 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)

Evolution for RAB43 Gene

ENSEMBL:
Gene Tree for RAB43 (if available)
TreeFam:
Gene Tree for RAB43 (if available)

Paralogs for RAB43 Gene

Paralogs for RAB43 Gene

Pseudogenes.org Pseudogenes for RAB43 Gene

genes like me logo Genes that share paralogs with RAB43: view

Variants for RAB43 Gene

Sequence variations from dbSNP and Humsavar for RAB43 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000087837 -- 129,095,236(+) GTGAC(C/T)CCACA intron-variant
rs1000121834 -- 129,120,132(+) TCCCC(A/G)TCACA intron-variant
rs1000124666 -- 129,112,145(+) AGCTA(C/T)TCAGG intron-variant
rs1000164774 -- 129,093,902(+) CCACG(A/G)CACTC intron-variant
rs1000191151 -- 129,118,741(+) AGGCT(C/T)ATCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB43 Gene

Variant ID Type Subtype PubMed ID
esv3435887 CNV insertion 20981092
nsv1073246 CNV deletion 25765185
nsv433217 CNV loss 18776910
nsv591650 CNV loss 21841781

Variation tolerance for RAB43 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB43 Gene

Disorders for RAB43 Gene

Relevant External Links for RAB43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB43

No disorders were found for RAB43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB43 Gene

Publications for RAB43 Gene

  1. Isolation, expression pattern of a novel human RAB gene RAB41 and characterization of its intronless homolog RAB41P. (PMID: 15018353) Guo JH … Zhao SY (DNA sequence : the journal of DNA sequencing and mapping 2003) 2 3 4 60
  2. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4 60
  3. Rab18 and Rab43 have key roles in ER-Golgi trafficking. (PMID: 18664496) Dejgaard SY … Presley JF (Journal of cell science 2008) 3 4 60
  4. Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways. (PMID: 17562788) Fuchs E … Barr FA (The Journal of cell biology 2007) 3 4 60
  5. Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells. (PMID: 17684057) Haas AK … Barr FA (Journal of cell science 2007) 3 4 60

Products for RAB43 Gene

  • Addgene plasmids for RAB43

Sources for RAB43 Gene

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