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

RABAC1 Gene

protein-coding   GIFtS: 51
GCID: GC19M042460

Rab acceptor 1 (prenylated)

 Explore 3 diseases affiliated with
RABAC1 via our new
 Human Malady Compendium 
Biological research products
for RABAC1
    

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

Aliases
Rab Acceptor 1 (Prenylated)1 2     PRA1 Family Protein 12 3
PRA11 2 3 5     PRA1 Domain Family 12
PRAF11 2 3     Prenylated Rab Acceptor 12
YIP31 2     Prenylated Rab Acceptor Protein 12

External Ids:    HGNC: 97941   Entrez Gene: 105672   Ensembl: ENSG000001054047   OMIM: 6049255   UniProtKB: Q9UI143   

Export aliases for RABAC1 gene to outside databases

Previous GC identifers: GC19M043100 GC19M042852 GC19M047136 GC19M047152 GC19M038891


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

UniProtKB/Swiss-Prot: PRAF1_HUMAN, Q9UI14
Function: General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle
docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal
of Rab GTPases from the membrane by GDI (By similarity)

Gene Wiki entry for RABAC1


(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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RABAC1 gene promoter:
         Pax-5   p300   MIF-1   NF-kappaB   GATA-2   SEF-1 (1)   NF-kappaB1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRABAC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RABAC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABAC1


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

RABAC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RABAC1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M042460:  view genomic region     (about GC identifiers)

Start:
42,460,833 bp from pter      End:
42,463,528 bp from pter
Size:
2,696 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: PRAF1_HUMAN, Q9UI14 (See protein sequence)
Recommended Name: Prenylated Rab acceptor protein 1  
Size: 185 amino acids; 20648 Da
Subunit: Homodimer. Interacts with VAMP2 (synaptobrevin-2), GDI1, and PCLO (By similarity). Interacts specifically with
prenylated Rab proteins; strongly with RAB4B, RAB5A and RAB5C, and weakly with RAB4A, RAB6, RAB7A, RAB17 and RAB22.
Interacts with NDRG1
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity). Golgi
apparatus (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle (By similarity). Note=According to
some authors, it is an integral membrane protein, while others showed that it is cytoplasmic and membrane-associated
to Golgi and synaptic vesicles (By similarity)
Developmental stage: In fetal tissues, it is more abundant in kidney and lung
Caution: In contrast to the mouse ortholog, it does not interact with Ras
Secondary accessions: Q7Z4Y2 Q9Y3R1

Explore the universe of human proteins at neXtProt for RABAC1: NX_Q9UI14

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UI14

  • RABAC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006414.2  
    ENSEMBL proteins: 
     ENSP00000222008  

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    Uscn Proteins for RABAC1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane IEA--
    GO:0008021synaptic vesicle IEA--
    GO:0016021integral to membrane IEA--
    GO:0030054cell junction IEA--


    RABAC1 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

    RABAC1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004895 Prenylated_rab_accept_PRA1

    Graphical View of Domain Structure for InterPro Entry Q9UI14

    ProtoNet protein and cluster: Q9UI14

    UniProtKB/Swiss-Prot: PRAF1_HUMAN, Q9UI14
    Similarity: Belongs to the PRA1 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: PRAF1_HUMAN, Q9UI14
    Function: General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle
    docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal
    of Rab GTPases from the membrane by GDI (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19060904
    GO:0008022protein C-terminus binding IEA--
    GO:0042802identical protein binding IPI19060904
    GO:0070064proline-rich region binding IEA--


    RABAC1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RABAC1:
     Increased G2M DNA content 


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RABAC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/77 Interacting proteins for RABAC1 (Q9UI141, 2, 3 ENSP000002220084) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FXR2P511161, 2, 3, ENSP000002501134EBI-712367,EBI-740459 MINT-66878 I2D: score=5 STRING: ENSP00000250113
    PLEKHF2Q9H8W41, 2, 3, ENSP000003223734EBI-712367,EBI-742388 MINT-67621 I2D: score=5 STRING: ENSP00000322373
    RABAC1Q9UI141, 2EBI-712367,EBI-712367 MINT-8267797 MINT-67868 MINT-65746
    ADCK3Q8NI602, 3, ENSP000003557394MINT-66678 I2D: score=5 STRING: ENSP00000355739
    DUSP12Q9UNI62, 3, ENSP000003569204MINT-67416 I2D: score=5 STRING: ENSP00000356920
    About this table

    (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 RABAC1
    Search CenterWatch for drugs/clinical trials and news about RABAC1 / PRAF1 

    (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,
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    About This Section

    REFSEQ mRNAs for RABAC1 gene: 
    NM_006423.2  

    Unigene Cluster for RABAC1:

    Rab acceptor 1 (prenylated)
    Hs.11417  [show with all ESTs]
    Unigene Representative Sequence: BM474950
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000222008(uc002osf.3)

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    Additional cDNA sequence: 

    AF112202.1 AF112996.1 AJ133534.1 BC008950.2 BT019964.1 CR457214.1 CR542116.1 

    10 DOTS entries:

    DT.444231  DT.97838416  DT.92059196  DT.97838349  DT.95214543  DT.100058843  DT.92434407  DT.92434410 
    DT.100059290  DT.95214563 

    24/390 AceView cDNA sequences (see all 390):

    AA303566 BM511738 BM770954 CA310333 CR612417 BF435025 BX089459 BU727397 
    BM770048 CD368018 CR542116 BU787402 BQ574904 CF242972 BM973549 BQ225284 
    BQ613843 BQ061589 AI341845 AI916505 CA309402 BQ063454 BQ613743 CA308965 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for RABAC1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
    SP1:                          -                                                   
    SP2:                          -                                                   
    SP3:                          -                                                   
    SP4:                          -                       -                           
    SP5:                          -                 -                                 


    ECgene alternative splicing isoforms for RABAC1

    (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

    RABAC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGTCCTGC

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

    About this image
    See RABAC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RABAC1

    SOURCE GeneReport for Unigene cluster: Hs.11417

    UniProtKB/Swiss-Prot: PRAF1_HUMAN, Q9UI14
    Tissue specificity: Ubiquitous. Strongest expression found in placenta, pituitary gland, kidney, lung and stomach

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    In Situ
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    (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 RABAC1 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rabac11 , 5 Rab acceptor 1 (prenylated)1, 5 89.37(n)1
    94.59(a)1
      7 (13.73 cM)5
    144701  NM_010261.21  NP_034391.11 
     249697505 
    lizard
    (Anolis carolinensis)
    Reptilia RABAC16
    --
    79(a)
    1 ↔ 1
    GL344515.1(12937-16782)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238722 Xenopus laevis transcribed sequence with weak similarity more 73.21(n)    CA981966.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe26d122 Danio rerio Rab acceptor 1 (prenylated) (RABAC1) mRNA, more 70.91(n)    AY391453.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14181 CG1418 49.03(n)
    37.42(a)
      36035  NM_136695.2  NP_610539.1 


    ENSEMBL Gene Tree for RABAC1 (if available)
    TreeFam Gene Tree for RABAC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/88 NCBI SNPs in RABAC1 are shown (see all 88    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889380201,2
    --42460342(+) TGGCCA/GCCCCC 1 -- int10--------
    rs1916380761,2
    --42460362(+) AGGGCA/GCTGAG 1 -- int10--------
    rs1834903731,2
    --42460391(+) CTGGCC/TGACAT 1 -- int10--------
    rs1879831991,2
    --42460500(+) GCTGAC/TTTGGC 1 -- int10--------
    rs1171995511,2
    F,--42460653(+) CCCCCG/AGCACA 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1403042131,2
    --42460781(+) GCTCTA/GTGCAG 1 -- int10--------
    rs785533241,2
    F,--42460783(+) TCTGTG/ACAGTA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1133811101,2
    --42460852(+) CACCCG/ATAACA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs2002694951,2
    --42460977(+) GAGGCC/TGGCAG 1 -- ut310--------
    rs1997751811,2
    --42460990(+) CCCAGA/CAGACA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RABAC1 (42460833 - 42463528 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RABAC1: --

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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

    RABAC1 for disorders           About GeneDecksing

    OMIM gene information: 604925    OMIM disorders: --

    3 diseases for RABAC1:    About MalaCards
    candidiasis    endometrial carcinoma    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: RABAC1 (3 documents)

    Export disorders for RABAC1 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 RABAC1 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with RABAC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction cloning and characterization of the cDNA encoding the human prenylated rab acceptor (PRA1). (PubMed id 10329441)1, 2, 3 Bucci C.... Bruni C.B. (1999)
    2. Expression analysis and chromosomal assignment of PRA1 and RILP genes. (PubMed id 11520070)1, 2, 9 Bucci C.... Bruni C.B. (2001)
    3. Genomic organization, expression profile, and characterization of the new protein PRA1 domain family, member 2 (PRAF2). (PubMed id 16481131)1, 2, 9 Fo C.S.... Bachmann A.S. (2006)
    4. 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)
    5. PRA1 inhibits the extraction of membrane-bound rab GTPase by GDI1. (PubMed id 10751420)1, 3 Hutt D.M....Ngsee J.K. (2000)
    6. Prenylated Rab acceptor 1 (PRA1) inhibits TCF/beta-catenin signaling by binding to beta-catenin. (PubMed id 16930546)1, 9 Kim J.T....Lim J.S. (2006)
    7. PRA1 co-localizes with envelope but does not influence primate lentivirus production, infectivity or envelope incorporation. (PubMed id 15914857)1, 9 Blancou P....Desrosiers R.C. (2005)
    8. Pitfalls in the use of transfected overexpression systems to study membrane proteins function: the case of TSH receptor and PRA1. (PubMed id 14604818)1, 9 Jacobs C. and Pirson I. (2003)
    9. Yip3 catalyses the dissociation of endosomal Rab-GDI complexes. (PubMed id 14574414)1, 9 Sivars U....Pfeffer S.R. (2003)
    10. Piccolo, a presynaptic zinc finger protein structurally related to bassoon. (PubMed id 10707984)1, 9 Fenster S.D....Garner C.C. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10567 HGNC: 9794 AceView: RABAC1 Ensembl:ENSG00000105404 euGenes: HUgn10567
    ECgene: RABAC1 H-InvDB: RABAC1

    (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 RABAC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RABAC1 gene:
    Search GeneIP for patents involving RABAC1

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