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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB40A Gene

protein-coding   GIFtS: 45
GCID: GC0XM102754

RAB40A, member RAS oncogene family

  Search for RAB40A
in our new
 Human Malady Compendium 
Biological research products
for RAB40A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAB40A, Member RAS Oncogene Family1 2     Rar-21
RAR2A1 2     RAR22
Protein Rar-22 3     Ras-Related Protein Rab-40A2
SOCS Box-Containing Protein RAR2A2 3     SOCS Box Containing Protein RAR2A2

External Ids:    HGNC: 182831   Entrez Gene: 1426842   Ensembl: ENSG000001724767   UniProtKB: Q8WXH63   

Export aliases for RAB40A gene to outside databases

Previous GC identifers: GC0XM098056 GC0XM099663 GC0XM100787 GC0XM101526 GC0XM102560 GC0XM102641 GC0XM092410


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAB40A:
This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal
suppressors of cytokine signaling box. (provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6
Function: May be a 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 (By
similarity)

Gene Wiki entry for RAB40A


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB40A gene promoter:
         AP-2rep   LHX3b/Lhx3b   HNF-1A   POU2F1   POU2F1b   POU2F1a   HNF-1   LHX3a/Lhx3a   Cart-1   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB40A promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB40A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB40A


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

Entrez Gene cytogenetic band: Xq22.1   Ensembl cytogenetic band:  Xq22.2   HGNC cytogenetic band: Xq22.1

RAB40A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB40A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM102754:  view genomic region     (about GC identifiers)

Start:
102,754,678 bp from pter      End:
102,774,417 bp from pter
Size:
19,740 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6 (See protein sequence)
Recommended Name: Ras-related protein Rab-40A precursor  
Size: 277 amino acids; 31076 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Secondary accessions: O00407 Q17RQ5 Q6DK06 Q8TF06

Explore the universe of human proteins at neXtProt for RAB40A: NX_Q8WXH6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WXH6

  • RAB40A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_543155.2  
    ENSEMBL proteins: 
     ENSP00000361716   ENSP00000305648  

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    Uscn Proteins for RAB40A

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005886plasma membrane IEA--


    RAB40A for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAB40A for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR001496 SOCS_C

    Graphical View of Domain Structure for InterPro Entry Q8WXH6

    ProtoNet protein and cluster: Q8WXH6

    2 Blocks protein families:
    IPB001496 SOCS protein
    IPB001806 Transforming protein P21 RAS signature


    UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6
    Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3
    ubiquitin ligase complexes (By similarity)
    Similarity: Belongs to the small GTPase superfamily. Rab family
    Similarity: Contains 1 SOCS box domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6
    Function: May be a 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 (By
    similarity)

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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--


    RAB40A for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: RB40A_HUMAN, Q8WXH6
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB40A

    1 Interacting protein for RAB40A (Q8WXH62) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    --Q8CHW52MINT-7899192
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport IEA--
    GO:0016567protein ubiquitination IEA--


    RAB40A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB40A
    Search CenterWatch for drugs/clinical trials and news about RAB40A / RB40A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAB40A gene: 
    NM_080879.2  

    Unigene Cluster for RAB40A:

    RAB40A, member RAS oncogene family
    Hs.706904  [show with all ESTs]
    Unigene Representative Sequence: BC045674
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372633(uc022cbs.1) ENST00000304236(uc004ekk.3)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AB232637.1 AF132748.1 AF422143.1 BC045674.1 BC074854.2 BC074855.2 BC113501.1 BC117232.1 

    3 DOTS entries:

    DT.97836075  DT.441188  DT.100700779 

    15 AceView cDNA sequences:

    BC074854 AF132748 Z43570 BC074855 AK056859 AF422143 NM_080879 H24205 
    BC045674 AW300309 Z39635 H24206 CF264884 BI562054 R48513 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB40A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RAB40A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB40A

    SOURCE GeneReport for Unigene cluster: Hs.706904
        SABiosciences Custom PCR Arrays for RAB40A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB40A

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RAB40A gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F1NPF9_CHICK6
    Uncharacterized protein
    74(a)
    1 → many
    18(3338797-3361778)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    74(a)
    1 → many
    2(103680964-103703579)
    zebrafish
    (Danio rerio)
    Actinopterygii rab40b6
    RAB40B, member RAS oncogene family
    77(a)
    1 → many
    12(33726278-33753571)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG19003 RAB small monomeric GTPase 58(a)   11A11   --
            Species with no ortholog for RAB40A

    ENSEMBL Gene Tree for RAB40A (if available)
    TreeFam Gene Tree for RAB40A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB40A gene
    RAB40C2  RAB40AL2  RAB40B2  
    18/56 SIMAP similar genes for RAB40A using alignment to 1 protein entry:     RB40A_HUMAN(see all similar genes):
    RAB40AL    RAB40B    RAB40C    RAB10    RAB13    DKFZp686J07132
    RAB8A    RAB8B    RAB15    RAB19    RAB43    RAB11A
    RAB11B    RAB30    RAB1B    RAB35    RAB37    RAB3C

    RAB40A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/216 NCBI SNPs in RAB40A are shown (see all 216    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs556707391,2
    C--92410501(+) CTGTTA/GTATAC 1 -- ds50010--------
    rs66164771,2
    H--92412067(+) GTGACA/GCAGCA 1 -- int1 ese34Minor allele frequency- G:0.00NS EA 418
    rs605514441,2
    C,--92413274(+) CAAACA/GTGAAT 1 -- int13Minor allele frequency- G:0.00WA CSA 5
    rs78912171,2
    C,F,H,--92413629(+) GGTCCA/CACACC 1 -- int118--NA NS EA WA CSA 1658
    rs105215011,2
    C,F,H,--92414387(+) GTGTCC/TATAGG 1 -- int116--NS EA NA WA CSA 1189
    rs117967801,2
    C,F,H,--92416242(+) CCTTGT/CGAGAT 1 -- int17Minor allele frequency- C:0.00NS EA NA 532
    rs1484090341,2
    C,--92416670(+) TTATAC/TGTGCA 1 -- int10--------
    rs70630321,2
    C,--92416741(+) ctTTTC/GTCCTT 1 -- int1 trp30--------
    rs59457841,2
    C,A,--92417384(+) cccccC/Ttctga 1 -- int1 trp32Minor allele frequency- T:0.25WA 4
    rs11808961,2
    C,A,--92417401(+) agtgtT/Ccatta 1 -- int13Minor allele frequency- C:0.00WA CSA 5

    HapMap Linkage Disequilibrium report for RAB40A (102754678 - 102774417 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAB40A: --
    Locus Specific Mutation Databases (LSDB): RAB40A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAB40A
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB40A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for RAB40A gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with RAB40A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. (PubMed id 16923123)1, 2 Itoh T.... Fukuda M. (2006)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    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. (2004)
    4. Evolution of the Rab family of small GTP-binding proteins. (PubMed id 11697911)1, 3 Pereira-Leal J.B. and Seabra M.C. (2001)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PubMed id 12578829)1 Fukuda M. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. (PubMed id 11773082)1 Kuroda T.S.... Mikoshiba K. (2002)
    10. The SOCS box: a tale of destruction and degradation. (PubMed id 12076535)1 Kile B.T....Hilton D.J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 142684 HGNC: 18283 AceView: RAB40A Ensembl:ENSG00000172476 euGenes: HUgn142684
    ECgene: RAB40A H-InvDB: RAB40A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB40A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB40A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAB40A gene:
    Search GeneIP for patents involving RAB40A

    GeneCards and IP:
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB40A
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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