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

RAB12 Gene

protein-coding   GIFtS: 44
GCID: GC18P008600

RAB12, member RAS oncogene family

 Explore 1 disease affiliated with
RAB12 via our new
 Human Malady Compendium 
Biological research products
for RAB12
    

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

Aliases
RAB12, Member RAS Oncogene Family1 2
Putative Ras-Related Protein Rab-122
Ras-Related Protein Rab-122

External Ids:    HGNC: 313321   Entrez Gene: 2014752   Ensembl: ENSG000002064187   UniProtKB: Q6IQ223   

Export aliases for RAB12 gene to outside databases


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

UniProtKB/Swiss-Prot: RAB12_HUMAN, Q6IQ22
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. That Rab may play a role in protein transport from recycling
endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor (By similarity)




(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_000018.9  NC_018929.1  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB12 gene promoter:
         Egr-3   Egr-1   CUTL1   E47   c-Ets-1   RORalpha1   POU2F1   FOXJ2 (long isoform)   STAT3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB12 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB12


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

Entrez Gene cytogenetic band: 18p11.22   Ensembl cytogenetic band:  18p11.22   HGNC cytogenetic band: 18p11.22

RAB12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB12 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P008600:  view genomic region     (about GC identifiers)

Start:
8,609,443 bp from pter      End:
8,639,380 bp from pter
Size:
29,938 bases      Orientation:
plus 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: RAB12_HUMAN, Q6IQ22 (See protein sequence)
Recommended Name: Ras-related protein Rab-12  
Size: 244 amino acids; 27248 Da
Subunit: May interact with RABIF
Subcellular location: Recycling endosome membrane; Lipid-anchor; Cytoplasmic side (By similarity). Lysosome membrane;
Lipid-anchor; Cytoplasmic side (By similarity). Golgi apparatus membrane (By similarity)
Sequence caution: Sequence=AAH71600.2; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAH98407.1;
Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BC050338; Type=Frameshift; Positions=195;
1 PDB 3D structure from and Proteopedia for RAB12:
2IL1 (3D)    
Secondary accessions: A6NEF5 Q4KMQ3

Explore the universe of human proteins at neXtProt for RAB12: NX_Q6IQ22

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6IQ22

  • RAB12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001020471.2  
    ENSEMBL proteins: 
     ENSP00000331748  

    Human Recombinant Protein Products: 
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    Uscn Proteins for RAB12

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005764lysosome ISS--
    GO:0005765lysosomal membrane IEA--
    GO:0055038recycling endosome membrane ISS--


    RAB12 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RAB12


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

    RAB12 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type

    Graphical View of Domain Structure for InterPro Entry Q6IQ22

    ProtoNet protein and cluster: Q6IQ22

    UniProtKB/Swiss-Prot: RAB12_HUMAN, Q6IQ22
    Similarity: Belongs to the small GTPase superfamily. Rab family


    (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: RAB12_HUMAN, Q6IQ22
    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. That Rab may play a role in protein transport from recycling
    endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor (By similarity)
    Enzyme regulation: Rab activation is generally mediated by a guanine exchange factor (GEF), while inactivation through
    hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP) (By similarity). That Rab is activated by
    DENND3, a guanine exchange factor

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
    GO:0019003GDP binding IDA--


    RAB12 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAB12

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5 Interacting proteins for RAB12 (Q6IQ223 ENSP000003317484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC64Q6ZP653I2D: score=1 
    CCDC64BA1A5D93I2D: score=1 
    SLC2A4P146723I2D: score=1 
    YWHABP319463I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 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:0008333endosome to lysosome transport ISS--
    GO:0015031protein transport IEA--
    GO:0044257cellular protein catabolic process ISS--


    RAB12 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 RAB12
    Search CenterWatch for drugs/clinical trials and news about RAB12 

    (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 RAB12 gene: 
    NM_001025300.2  

    Unigene Cluster for RAB12:

    RAB12, member RAS oncogene family
    Hs.270074  [show with all ESTs]
    Unigene Representative Sequence: BC071600
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329286(uc002knp.3) ENST00000580987

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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB12 (see all 28):
    hsa-miR-607 hsa-miR-448 hsa-miR-148b hsa-miR-520d-5p hsa-miR-4272 hsa-miR-106a hsa-miR-29a hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidRAB12 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAB12
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    Additional cDNA sequence: 

    AK127824.1 BC050338.1 BC071600.1 BC098407.1 CR627121.1 

    5 DOTS entries:

    DT.97793083  DT.101971256  DT.108281  DT.407758  DT.411259 

    24/53 AceView cDNA sequences (see all 53):

    BX642232 BQ024519 BC050338 CD518316 AI080373 AI356332 BU754385 AA001052 
    BX493064 BC071600 AW449532 CR627121 AA680106 CF994415 AA824235 R02835 
    AW452366 BF574430 AI076335 AW449830 AI032693 AA587104 AA001088 AA027097 

    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

    RAB12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTTCCTAAG

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

    About this image
    See RAB12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB12

    SOURCE GeneReport for Unigene cluster: Hs.270074
        SABiosciences Custom PCR Arrays for RAB12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB12

    (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 RAB12 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RAB121 RAB12, member RAS oncogene family 88.25(n)
    95.9(a)
      421048  XM_003640800.1  XP_003640848.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB126
    --
    88(a)
    1 ↔ 1
    GL343319.1(229218-246061)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.129022 Transcribed sequence with weak similarity to protein more 84.97(n)    BX733221.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.150112 Transcribed sequence with weak similarity to protein more 78.24(n)    CK145823.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RabX26
    Rab9Db6
    (see all 6)
    Rab GTPase 9Db
    (see all 6)
    37(a)
    35(a)
    (see all 6)
    1 ↔ many
    1 ↔ many
    (see all 6)
    X(10311518-10312252)
    X(10516388-10517258)


    ENSEMBL Gene Tree for RAB12 (if available)
    TreeFam Gene Tree for RAB12 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB12 gene
    RAB102  RAB192  RAB432  RAB182  RAB262  RAB8A2  RAB372  RAB352  
    RAB8B2  RAB1B2  RAB302  RAB1A2  RAB132  
    18/96 SIMAP similar genes for RAB12 using alignment to 1 protein entry:     RAB12_HUMAN(see all similar genes):
    DKFZp686J06205    rab1b    RAB10    RAB8B    RAB8A    RAB30
    RAB13    RAB19    RAB1C    RAB3B    RAB15    RAB39B
    RAB6A'    RAB41    RAB43    DKFZp686J07132    RAB3A    RAB3C

    RAB12 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

    10/549 NCBI SNPs in RAB12 are shown (see all 549    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1917783821,2
    --8607649(+) ATTCCA/TGAAAA 1 -- us2k10--------
    rs116627851,2
    C,F,A,H,--8607757(+) TGCTAG/CAGGAA 1 -- us2k1 trp321Minor allele frequency- C:0.41EA NS NA WA 1172
    rs1504236941,2
    --8607824(+) ATGTTC/TTGCGG 1 -- us2k10--------
    rs1381935841,2
    --8607827(+) TTCTGC/TGGCGG 1 -- us2k10--------
    rs1838601301,2
    --8607831(+) GCGGCA/GGAGCA 1 -- us2k10--------
    rs1891819991,2
    --8607969(+) TTTTTA/TAATTA 1 -- us2k10--------
    rs1496184681,2
    --8608145(+) GAAAGA/GAAAAG 1 -- us2k10--------
    rs1810697671,2
    --8608206(+) TCTGTC/GTTTCA 1 -- us2k10--------
    rs1433202661,2
    --8608211(+) GTTTCA/TAATAA 1 -- us2k10--------
    rs802049091,2
    C,F,--8608231(+) ATCATA/GTTTTA 1 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for RAB12 (8609443 - 8639380 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RAB12
         1 Indel: 41710

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    (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

    RAB12 for disorders           About GeneDecksing

    1 disease for RAB12:    About MalaCards
    pustulosis of palm and sole

    1 disease from the University of Copenhagen DISEASES database for RAB12:
    Pustulosis of palm and sole

    Export disorders for RAB12 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)
    About This Section

    PubMed articles for RAB12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RAB12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Identification and characterisation of novel Mss4-binding Rab GTPases. (PubMed id 21194374)2 Wixler V.... Itzen A. (2011)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. 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)
    7. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PubMed id 20937701)2 Yoshimura S.... Barr F.A. (2010)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    10. 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)

    (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: 201475 HGNC: 31332 AceView: LOC201475 Ensembl:ENSG00000206418 euGenes: HUgn201475
    ECgene: RAB12 H-InvDB: RAB12

    (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 RAB12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB12 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 RAB12 gene:
    Search GeneIP for patents involving RAB12

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



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