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RAB30 Gene

protein-coding   GIFtS: 53
GCID: GC11M082692

RAB30, Member RAS Oncogene Family

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RAB30, Member RAS Oncogene Family1 2
Ras-Related Protein Rab-302

External Ids:    HGNC: 97701   Entrez Gene: 273142   Ensembl: ENSG000001375027   OMIM: 6056935   UniProtKB: Q157713   

Export aliases for RAB30 gene to outside databases

Previous GC identifers: GC11M085019 GC11M084231 GC11M082915 GC11M082418 GC11M082370 GC11M078989


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RAB30 Gene:
RAB30 (RAB30, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB30 include age related macular degeneration, and endotheliitis. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB19.

UniProtKB/Swiss-Prot: RAB30_HUMAN, Q15771
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB30 gene promoter:
         ER-alpha   NF-1   AML1a   MAZR   SREBP-1b   YY1   POU2F1   SREBP-1a   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB30 promoter sequence
   Search Chromatin IP Primers for RAB30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB30


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12-q14   Ensembl cytogenetic band:  11q14.1   HGNC cytogenetic band: 11q12-q14

RAB30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB30 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M082692:  view genomic region     (about GC identifiers)

Start:
82,684,175 bp from pter      End:
82,782,965 bp from pter
Size:
98,791 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RAB30_HUMAN, Q15771 (See protein sequence)
Recommended Name: Ras-related protein Rab-30 precursor  
Size: 203 amino acids; 23058 Da
1 PDB 3D structure from and Proteopedia for RAB30:
2EW1 (3D)    
Secondary accessions: Q6FGK1 Q96CI8

Explore the universe of human proteins at neXtProt for RAB30: NX_Q15771

Explore proteomics data for RAB30 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys59
  • Modification sites at PhosphoSitePlus

  • See RAB30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001272988.1  NP_001272989.1  NP_001272990.1  NP_055303.2  

    ENSEMBL proteins: 
     ENSP00000435189   ENSP00000434974   ENSP00000260056   ENSP00000433832   ENSP00000435089  
     ENSP00000434953   ENSP00000432193   ENSP00000433243   ENSP00000437235   ENSP00000436587  
     ENSP00000432336   ENSP00000435542   ENSP00000436282   ENSP00000434528   ENSP00000434106  

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    Cloud-Clone Corp. CLIAs for RAB30


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q15771

    ProtoNet protein and cluster: Q15771

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB30_HUMAN, Q15771
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RAB30 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB30_HUMAN, Q15771
    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 entry for RAB30:
    RAB30, member RAS oncogene family

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS9792283
    GO:0005525GTP binding IEA--
         
    RAB30 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Rab30 (no phenotypes)

    RAB30 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAB30
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAB30
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAB30

    miRNA
    Products:
        
    miRTarBase miRNAs that target RAB30:
    hsa-mir-98-5p (MIRT027660), hsa-mir-26b-5p (MIRT029648), hsa-mir-1 (MIRT023855), hsa-mir-29c-3p (MIRT020408), hsa-mir-16-5p (MIRT001424), hsa-mir-200a-3p (MIRT000774), hsa-mir-155-5p (MIRT020831)

    Block miRNA regulation of human, mouse, rat RAB30 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate RAB30:
    hsa-miR-29c hsa-miR-29a hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidRAB30 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAB30

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    GenScript: all cDNA clones in your preferred vector: RAB30 (NM_014488)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB30


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAB30_HUMAN, Q15771: Membrane; Lipid-anchor; Cytoplasmic side (By similarity). Golgi apparatus, trans-Golgi
    network. Cytoplasm. Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol3
    cytoskeleton2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005795Golgi stack TAS9792283
    GO:0005801cis-Golgi network IDA--

    RAB30 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RAB30 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RAB30
        Epithelial Tight Junctions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB30
    Interactions:

        Search GeneGlobe Interaction Network for RAB30

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for RAB30 (Q157713 ENSP000002600564) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC64BA1A5D93, ENSP000003739984STRING: ENSP00000373998 I2D: score=1 
    SMAD1Q157973, ENSP000003057694I2D: score=4 STRING: ENSP00000305769
    CSNK1A1P487293I2D: score=1 
    CSNK1EP496743I2D: score=1 
    NKD1Q969G93I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS9792283
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0007030Golgi organization IMP--
    GO:0007165signal transduction ----

    RAB30 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RAB30



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RAB30 gene (4 alternative transcripts): 
    NM_001286059.1  NM_001286060.1  NM_001286061.1  NM_014488.4  

    Unigene Cluster for RAB30:

    RAB30, member RAS oncogene family
    Hs.40758  [show with all ESTs]
    Unigene Representative Sequence: BX641138
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533486(uc009yve.3 uc001ozu.3 uc010rst.2) ENST00000534141(uc001ozv.3)
    ENST00000260056 ENST00000533014 ENST00000527633 ENST00000531021 ENST00000534301
    ENST00000525117(uc009yvg.1) ENST00000532548 ENST00000524635 ENST00000526205
    ENST00000534103 ENST00000530224 ENST00000533276 ENST00000528379
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RAB30 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate RAB30:
    hsa-miR-29c hsa-miR-29a hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidRAB30 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RAB30
    Predesigned siRNA for gene silencing in human, mouse, rat RAB30
    Clone
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    GenScript: all cDNA clones in your preferred vector: RAB30 (NM_014488)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAB30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB30
    Primer
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    OriGene qPCR primer pairs and template standards for RAB30
    OriGene qSTAR qPCR primer pairs in human, mouse for RAB30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAB30
      QuantiTect SYBR Green Assays in human, mouse, rat RAB30
      QuantiFast Probe-based Assays in human, mouse, rat RAB30

    Additional mRNA sequence: 

    AF498956.1 AK291376.1 AK310082.1 AK312323.1 BC014213.2 BX641138.1 CR542106.1 U57092.1 

    10 DOTS entries:

    DT.311673  DT.439103  DT.120736034  DT.95298172  DT.120735971  DT.120735993  DT.120736002  DT.91740660 
    DT.120736038  DT.99960914 

    Selected AceView cDNA sequences (see all 80):

    BC014213 CR542106 AI096732 AF498956 BP351657 AW181898 AA455321 NM_014488 
    BF513724 AA455976 AI095008 AA452213 CR608213 H97237 AI423270 AI218306 
    AI583217 AI423008 AA288001 BF516253 AA748695 AI673455 AA459159 AL601870 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAB30 (see all 12)    About this scheme

    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:                                            -                 -     -     -                                                                                 

    ExUns: 10f
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for RAB30

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RAB30 expression in normal human tissues (normalized intensities)      RAB30 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCAGCAAA
    RAB30 Expression
    About this image


    RAB30 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    RAB30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.40758
        Custom PCR Arrays for RAB30
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RAB30
    OriGene qSTAR qPCR primer pairs in human, mouse for RAB30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAB30
    QuantiTect SYBR Green Assays in human, mouse, rat RAB30
    QuantiFast Probe-based Assays in human, mouse, rat RAB30
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB30

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RAB30 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab301 , 5 RAB30, member RAS oncogene family1, 5 94.09(n)1
    100(a)1
      7 (51.60 cM)5
    759851  NM_029494.21  NP_083770.21 
     927416035 
    chicken
    (Gallus gallus)
    Aves RAB301 RAB30, member RAS oncogene family 85.39(n)
    98.52(a)
      419020  XM_417213.4  XP_417213.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAB306
    RAB30, member RAS oncogene family
    98(a)
    1 ↔ 1
    3(202192835-202223799)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX689714.12   -- 79.81(n)    BX689714.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab301 RAB30, member RAS oncogene family 76.29(n)
    85.57(a)
      437023  NM_001002750.2  NP_001002750.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91003
    Rab301
    small monomeric GTPase3
    Rab301
    73(a)
    (best of 3)3
    64.22(n)1
    69.11(a)1
      27D53
    339881  NM_001258997.11  NP_001245926.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rab-301 rab-30 60.5(n)
    63.58(a)
      176476  NM_066927.3  NP_499328.1 


    ENSEMBL Gene Tree for RAB30 (if available)
    TreeFam Gene Tree for RAB30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB30 gene
    RAB192  RAB39A2  RAB2A2  RAB252  RAB432  RAB142  RAB4B2  RAB39B2  
    RAB11B2  RAB11A2  RAB422  RAB4A2  RAB4B-EGLN22  RAB2B2  
    Selected SIMAP similar genes for RAB30 using alignment to 13 protein entries:     RAB30_HUMAN (see all proteins) (see all similar genes):
    DKFZp686J07132    DKFZp686J06205    rab1b    RAB43    RAB19    RAB8B
    RAB15    RAB1C    RAB39A    RAB10    RAB12    RAB13
    RAB11A    RAB39B    RAB8A    RAB11B    RAB1B    RAB3A

    RAB30 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RAB30 (see all 1526)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1486857151,2
    --82692020(+) TGCTTC/GCACGA 1 -- int10--------
    rs1421859621,2
    --82692114(+) TAAAAA/GATCTA 1 -- int10--------
    rs171444531,2
    C,F,H--82692131(+) CCTAAG/ACCTTG 1 -- int121Minor allele frequency- A:0.07NA NS EA WA 2480
    rs1507626771,2
    --82692153(+) ATGGAA/GAGTAC 1 -- int10--------
    rs1887671321,2
    --82692347(+) CAAACA/GTTTTC 1 -- int10--------
    rs1920269961,2
    C--82692418(+) GAAAAG/TTATTC 1 -- int10--------
    rs116016101,2
    C,F,H--82692522(+) TAACAC/AATTTA 1 -- ut3118Minor allele frequency- A:0.03NS EA NA 2082
    rs1842176811,2
    --82692538(+) ATTAAA/TGTACT 1 -- ut310--------
    rs1894011451,2
    --82692637(+) GTTGGC/TCATGG 1 -- ut310--------
    rs1817227751,2
    --82692805(+) CAGGGC/TCCCCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RAB30 (82684175 - 82782965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RAB30:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv414CNV Insertion18451855
    esv33531CNV Loss17666407
    nsv515868CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB30
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB30

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605693    OMIM disorders: --

    3 diseases for RAB30:    About MalaCards
    age related macular degeneration    endotheliitis    malaria


    RAB30 for disorders           About GeneDecksing


    Export disorders for RAB30 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RAB30 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with RAB30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of two novel rab genes from human melanocytes. (PubMed id 8863739)1, 2, 3 Chen D.... Gahl W.A. (Gene 1996)
    2. Rab30 is required for the morphological integrity of the Golgi apparatus. (PubMed id 22188167)1, 2 Kelly E.E....McCaffrey M.W. (Biol. Cell 2012)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Small GTP-binding proteins in human endothelial cells. (PubMed id 9792283)1, 3 de Leeuw H.P....Voorberg J. (Br. J. Haematol. 1998)
    5. Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. (PubMed id 23326517)1 Holliday E.G....Wang J.J. (PLoS ONE 2013)
    6. Toxoplasma gondii salvages sphingolipids from the host Golgi through the rerouting of selected Rab vesicles to the parasitophorous vacuole. (PubMed id 23615442)1 Romano J.D....Coppens I. (Mol. Biol. Cell 2013)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. The genetic architecture of economic and political preferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27314 HGNC: 9770 AceView: RAB30 Ensembl:ENSG00000137502 euGenes: HUgn27314
    ECgene: RAB30 H-InvDB: RAB30

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAB30 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB30 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAB30 gene:
    Search GeneIP for patents involving RAB30

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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