Aliases for RAB43 Gene

Aliases for RAB43 Gene

  • RAB43, Member RAS Oncogene Family 2 3 5
  • RAB41 2 3 4
  • Ras-Related Protein Rab-43 3 4
  • Ras-Related Protein Rab-41 3 4
  • RAB11B 2 3
  • RAB43 5
  • ISY1 2

External Ids for RAB43 Gene

Previous GeneCards Identifiers for RAB43 Gene

  • GC03M130130
  • GC03M130128
  • GC03M130289
  • GC03M128806
  • GC03M126192
  • GC03M129088
  • GC03M129090
  • GC03M129152

Summaries for RAB43 Gene

GeneCards Summary for RAB43 Gene

RAB43 (RAB43, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB43 include Cone-Rod Dystrophy 2. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB30.

UniProtKB/Swiss-Prot Summary 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB43 Gene

Genomics for RAB43 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB43 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
GH03J129117 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 262.9 +2.2 2189 6.8 BCLAF1 SP1 NCOR1 ZNF600 ZMYM3 POLR2A CEBPA ATF3 CHD4 YY1 RAB43 CFAP92 ISY1 GP9 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03J129223 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 23.7 -105.3 -105343 8.7 ZNF600 IKZF1 JUND ZNF592 KLF9 CEBPA ATF3 ZIC2 YY1 CTCF CFAP92 RAB43 GP9 CNBP ISY1 HMCES MBD4 RPL32P3 ACAD9 RAB7A
GH03J129024 Promoter/Enhancer 1.9 EPDnew ENCODE CraniofacialAtlas dbSUPER 11.4 +96.4 96428 2.8 BCLAF1 SP1 ZNF207 ZNF592 ZIC2 NONO CTCF REST SMAD5 BHLHE40 CFAP92 EFCC1 GP9 CNBP RAB43 piR-30054 HSALNG0028852 lnc-KIAA1257-4
GH03J129248 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 11.2 -126.8 -126800 2.8 ZNF207 MYC ZNF600 POLR2A YY1 MXD4 CTCF SMAD5 ELK1 ETS1 COPG1 HSALNG0028869-002 piR-50076 HMCES CNBP ISY1 RAB43 GP9 H1-10-AS1 ACAD9
GH03J129050 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.1 +69.5 69497 4.7 BCLAF1 ZNF654 NCOR1 ZNF592 ZMYM3 CEBPA NFIC ZBTB10 CHD4 YY1 CFAP92 ISY1 EFCC1 RAB43 CNBP RAB7A RPL32P3 GP9 lnc-GP9-1 LOC100130760
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB43 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB43

Top Transcription factor binding sites by QIAGEN in the RAB43 gene promoter:
  • AML1a
  • AP-2gamma
  • C/EBPbeta
  • CP2
  • Gfi-1
  • ISGF-3
  • LCR-F1
  • POU2F1a
  • RORalpha1

Genomic Locations for RAB43 Gene

Latest Assembly
chr3:129,087,569-129,122,801
(GRCh38/hg38)
Size:
35,233 bases
Orientation:
Minus strand

Previous Assembly
chr3:128,806,412-128,840,993
(GRCh37/hg19 by Entrez Gene)
Size:
34,582 bases
Orientation:
Minus strand

chr3:128,806,412-128,841,644
(GRCh37/hg19 by Ensembl)
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:
    • Interacts with GDI1, GDI2, CHM and CHML; phosphorylation at Thr-82 disrupts these interactions.

    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

Protein Domains for RAB43 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • GTP-binding nuclear protein Ran

Suggested Antigen Peptide Sequences for RAB43 Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-41 (RAB43_HUMAN)

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:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,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:
  • Rab43 Rab43<tm1.1(KOMP)Vlcg>
  • Rab43 Rab43<tm1.2Kmm>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB43

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
golgi apparatus 5
extracellular 4
endosome 2
lysosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

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:0005794 Golgi apparatus IEA,IDA 17562788
GO:0012505 endomembrane system IBA 21873635
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:0000045 autophagosome assembly IBA 21873635
GO:0006886 intracellular protein transport IBA 21873635
GO:0007030 Golgi organization IMP 17684057
GO:0019068 virion assembly IMP 21680502
GO:0035526 retrograde transport, plasma membrane to Golgi IMP 17562788
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

mRNA/cDNA for RAB43 Gene

7 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 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 RAB43

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

Expression for RAB43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RAB43 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Eye(4)
genes like me logo Genes that share expression patterns with RAB43: view

Primer products for research

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 29
  • 99.53 (n)
-- 30
  • 31 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia RAB43 29 30
  • 91.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab43 29 16 30
  • 89.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab43 29
  • 89.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB43 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB43 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB43 29 30
  • 81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB43 30
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10742 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.77 29
Zebrafish
(Danio rerio)
Actinopterygii zgc:153788 29
  • 72.67 (n)
RAB43 30
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007096 29
  • 65.52 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rab19 29
  • 62.39 (n)
Rab-RP3 30
  • 51 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-19 29 30
  • 53.83 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for RAB43 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB43: view image
Alliance of Genome Resources:
Additional Orthologs for RAB43

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB43 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 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)

Additional Variant Information for RAB43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB43
Leiden Open Variation Database (LOVD)
RAB43

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB43 Gene

Disorders for RAB43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB43 Gene - From: COP

Disorder Aliases PubMed IDs
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards
Search RAB43 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB43

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

No data available for 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
  2. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4
  3. Rab18 and Rab43 have key roles in ER-Golgi trafficking. (PMID: 18664496) Dejgaard SY … Presley JF (Journal of cell science 2008) 3 4
  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
  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

Products for RAB43 Gene

Sources for RAB43 Gene