Aliases for RAB30 Gene

Aliases for RAB30 Gene

  • RAB30, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-30 3 4
  • RAB30 5

External Ids for RAB30 Gene

Previous GeneCards Identifiers for RAB30 Gene

  • GC11M085019
  • GC11M084231
  • GC11M082915
  • GC11M082418
  • GC11M082370
  • GC11M082692
  • GC11M078989

Summaries for RAB30 Gene

GeneCards Summary for RAB30 Gene

RAB30 (RAB30, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB30 include B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1. Among its related pathways are Vesicle-mediated transport and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB43.

UniProtKB/Swiss-Prot Summary for RAB30 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 (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB30 Gene

Genomics for RAB30 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB30 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 RAB30 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB30

Top Transcription factor binding sites by QIAGEN in the RAB30 gene promoter:
  • AML1a
  • ER-alpha
  • MAZR
  • NF-1
  • POU2F1
  • POU2F1a
  • SREBP-1a
  • SREBP-1b
  • YY1

Genomic Locations for RAB30 Gene

Latest Assembly
chr11:82,973,133-83,071,923
(GRCh38/hg38)
Size:
98,791 bases
Orientation:
Minus strand

Previous Assembly
chr11:82,684,175-82,782,939
(GRCh37/hg19 by Entrez Gene)
Size:
98,765 bases
Orientation:
Minus strand

chr11:82,684,175-82,782,965
(GRCh37/hg19 by Ensembl)
Size:
98,791 bases
Orientation:
Minus strand

Genomic View for RAB30 Gene

Genes around RAB30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB30 Gene

Proteins for RAB30 Gene

  • Protein details for RAB30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15771-RAB30_HUMAN
    Recommended name:
    Ras-related protein Rab-30
    Protein Accession:
    Q15771
    Secondary Accessions:
    • Q6FGK1
    • Q6MZH2
    • Q96CI8

    Protein attributes for RAB30 Gene

    Size:
    203 amino acids
    Molecular mass:
    23058 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB30 Gene

    Alternative splice isoforms for RAB30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB30 Gene

Post-translational modifications for RAB30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB30 Gene

Domains & Families for RAB30 Gene

Gene Families for RAB30 Gene

Protein Domains for RAB30 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB30 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92634, Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA (A8K5R1_HUMAN)
  • Ras-related protein Rab-30 (RAB30_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15771

UniProtKB/Swiss-Prot:

RAB30_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 RAB30: view

Function for RAB30 Gene

Molecular function for RAB30 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 (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins.
GENATLAS Biochemistry:
RAB30, member RAS oncogene family

Phenotypes From GWAS Catalog for RAB30 Gene

Gene Ontology (GO) - Molecular Function for RAB30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB30: view
genes like me logo Genes that share phenotypes with RAB30: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RAB30

miRNA for RAB30 Gene

miRTarBase miRNAs that target RAB30

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB30

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB30 Gene

Localization for RAB30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB30 Gene

Membrane. Lipid-anchor. Cytoplasmic side. Golgi apparatus, trans-Golgi network. Cytoplasm. Golgi apparatus.

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 RAB30 gene
Compartment Confidence
golgi apparatus 5
cytosol 4
plasma membrane 2
cytoskeleton 2
endosome 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack TAS 9792283
GO:0005801 cis-Golgi network IDA 22188167
genes like me logo Genes that share ontologies with RAB30: view

Pathways & Interactions for RAB30 Gene

genes like me logo Genes that share pathways with RAB30: view

Pathways by source for RAB30 Gene

1 Qiagen pathway for RAB30 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 22188167
GO:0032482 Rab protein signal transduction IEA --
genes like me logo Genes that share ontologies with RAB30: view

No data available for SIGNOR curated interactions for RAB30 Gene

Drugs & Compounds for RAB30 Gene

No Compound Related Data Available

Transcripts for RAB30 Gene

mRNA/cDNA for RAB30 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
16 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 RAB30

Alternative Splicing Database (ASD) splice patterns (SP) for RAB30 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d · 10e ·
SP1: - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: - - -
SP9: - - -
SP10: -
SP11: - -
SP12: - - -

ExUns: 10f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RAB30 Gene

GeneLoc Exon Structure for
RAB30

Expression for RAB30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB30 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.9), Brain (10.5), and Plasma (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB30 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB30

SOURCE GeneReport for Unigene cluster for RAB30 Gene:

Hs.40758

Evidence on tissue expression from TISSUES for RAB30 Gene

  • Nervous system(4.6)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with RAB30: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB30 Gene

Orthologs for RAB30 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB30 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB30 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB30 30
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB30 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB30 29 30
  • 96.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB30 29 30
  • 95.57 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab30 29 16 30
  • 94.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab30 29
  • 93.71 (n)
Chicken
(Gallus gallus)
Aves RAB30 29 30
  • 85.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB30 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab30 29
  • 80.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab30 29 30
  • 76.29 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9100 31
  • 73 (a)
Rab30 29 30
  • 64.22 (n)
OneToOne
Rab-RP3 31
  • 48 (a)
CG2885 31
  • 36 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002092 29
  • 60.44 (n)
Worm
(Caenorhabditis elegans)
Secernentea rab-30 29 30
  • 60.5 (n)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13245 29
Species where no ortholog for RAB30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

Evolution for RAB30 Gene

ENSEMBL:
Gene Tree for RAB30 (if available)
TreeFam:
Gene Tree for RAB30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB30: view image
Alliance of Genome Resources:
Additional Orthologs for RAB30

Paralogs for RAB30 Gene

genes like me logo Genes that share paralogs with RAB30: view

Variants for RAB30 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB30 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 RAB30 Gene

Variant ID Type Subtype PubMed ID
esv33531 CNV loss 17666407
esv3579916 CNV gain 25503493
nsv414 CNV insertion 18451855
nsv515868 CNV gain 19592680
nsv555602 CNV gain 21841781

Variation tolerance for RAB30 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB30
Leiden Open Variation Database (LOVD)
RAB30

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 RAB30 Gene

Disorders for RAB30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB30 Gene - From: COP

Disorder Aliases PubMed IDs
b-lymphoblastic leukemia/lymphoma with etv6-runx1
  • b-all with etv6-runx1
- elite association - COSMIC cancer census association via MalaCards
Search RAB30 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB30

genes like me logo Genes that share disorders with RAB30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB30 Gene

Publications for RAB30 Gene

  1. Molecular cloning of two novel rab genes from human melanocytes. (PMID: 8863739) Chen D … Gahl WA (Gene 1996) 2 3 4
  2. Rab30 is required for the morphological integrity of the Golgi apparatus. (PMID: 22188167) Kelly EE … McCaffrey MW (Biology of the cell 2012) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Small GTP-binding proteins in human endothelial cells. (PMID: 9792283) de Leeuw HP … Voorberg J (British journal of haematology 1998) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RAB30 Gene

Sources for RAB30 Gene