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

REP15 Gene

protein-coding   GIFtS: 39
GCID: GC12P027849

RAB15 Effector Protein

  Search for REP15
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAB15 Effector Protein1 2
RAB15EP2

External Ids:    HGNC: 337481   Entrez Gene: 3878492   Ensembl: ENSG000001742367   OMIM: 6108485   UniProtKB: Q6BDI93   

Export aliases for REP15 gene to outside databases

Previous GC identifers: GC12P027742 GC12P027618


(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 REP15 Gene:
REP15 is a binding partner of the RAB GTPase family member RAB15 that facilitates transferrin receptor (TFRC; MIM
190010) recycling from the endocytic recycling compartment (Strick and Elferink, 2005 (PubMed
16195351)).(supplied by OMIM, Mar 2008)

GeneCards Summary for REP15 Gene: 
REP15 (RAB15 effector protein) is a protein-coding gene.

UniProtKB/Swiss-Prot: REP15_HUMAN, Q6BDI9
Function: Regulates transferrin receptor recycling from the endocytic recycling compartment




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the REP15 gene promoter:
         GCNF   Nkx2-5   POU2F1   POU2F1a   GCNF-1   ZIC2/Zic2   GCNF-2   NF-Y   ATF6   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidREP15 promoter sequence
   Search SABiosciences Chromatin IP Primers for REP15

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat REP15


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

Entrez Gene cytogenetic band: 12p11.22   Ensembl cytogenetic band:  12p11.22   HGNC cytogenetic band: 12p11.22

REP15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
REP15 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P027849:  view genomic region     (about GC identifiers)

Start:
27,849,428 bp from pter      End:
27,850,566 bp from pter
Size:
1,139 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: REP15_HUMAN, Q6BDI9 (See protein sequence)
Recommended Name: Rab15 effector protein  
Size: 236 amino acids; 26571 Da
Subunit: Interacts with the GTP-bound form of RAB15
Subcellular location: Early endosome membrane. Note=Colocalizes with RAB11 and RAB15 to the endocytic recycling
compartment
Sequence caution: Sequence=AAT76304.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
Secondary accessions: B2RU16

Explore the universe of human proteins at neXtProt for REP15: NX_Q6BDI9

Explore proteomics data for REP15 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6BDI9

  • REP15 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    REP15 Protein Expression
    REFSEQ proteins: NP_001025045.1  
    ENSEMBL proteins: 
     ENSP00000310335  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031901early endosome membrane IEA--

    REP15 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q6BDI9


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: REP15_HUMAN, Q6BDI9
    Function: Regulates transferrin receptor recycling from the endocytic recycling compartment

    Animal Models:

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for REP15

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001881receptor recycling IEA--

    REP15 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for REP15

    1 HMDB Compound for REP15    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about REP15

    (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,
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    About This Section

    REFSEQ mRNAs for REP15 gene: 
    NM_001029874.1  

    Unigene Cluster for REP15:

    RAB15 effector protein
    Hs.269836  [show with all ESTs]
    Unigene Representative Sequence: NM_001029874
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000310791(uc001rig.1)
    miRNA
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    hsa-miR-600 hsa-miR-551b* hsa-miR-450b-5p
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    Inhib. RNA
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    Additional mRNA sequence: BC140921.1 

    1 DOTS entry:

    DT.105904 

    8 AceView cDNA sequences:

    AL037381 AI001183 AW294816 BX097453 AY662682 AI263222 BG196499 BG209944 

    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

    REP15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGCAATTAC
    REP15 Expression
    About this image


    See REP15 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.269836
        SABiosciences Custom PCR Arrays for REP15
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REP15

    (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 chordates.

    Orthologs for REP15 gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rep151 , 5 RAB15 effector protein1, 5 79.28(n)1
    74.78(a)1
      6 (77.70 cM)5
    665321  NM_025620.21  NP_079896.11 
     1470325375 
    lizard
    (Anolis carolinensis)
    Reptilia REP156
    Uncharacterized protein
    53(a)
    1 ↔ 1
    5(91543842-91544552)


    ENSEMBL Gene Tree for REP15 (if available)
    TreeFam Gene Tree for REP15 (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, 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) 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

    10/65 SNPs in REP15 are shown (see all 65)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011809721,2
    --27849088(+) AGCCT-/AGGGTA 1 -- us2k10--------
    rs578930271,2
    C--27849090(+) CCTGG-/AGGTAGCA/GG
    /GTAGCA/TAGCA
    GTAGC
    2 -- us2k1 cds10--------
    rs1153361851,2
    C,F--27849172(+) GGAAAG/AAGGAA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1380018041,2
    --27849177(+) GAGGAA/GACATG 1 -- us2k10--------
    rs1919717061,2
    --27849261(+) AGTATC/GTTTAA 1 -- us2k10--------
    rs740742271,2
    C--27849422(+) CCTCCC/TTGCAG 1 -- us2k12Minor allele frequency- T:0.15WA 120
    rs37512321,2
    C,F,H--27849435(+) CTTTTA/GCTTTG 1 -- ut5113Minor allele frequency- G:0.09NA NS EA 1272
    rs2008427771,2
    C--27849463(+) AACCAG/CATTCA 1 -- ut511Minor allele frequency- C:0.00EU 291
    rs740742281,2
    C,F--27849513(+) GCATCG/ACAACA 2 /S syn13Minor allele frequency- A:0.04WA NA 4666
    rs1494559371,2
    C,F--27849520(+) AACAGT/GTGGCT 2 /V /L mis11Minor allele frequency- G:0.00NA 4546

    HapMap Linkage Disequilibrium report for REP15 (27849428 - 27850566 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for REP15:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745664CNV Deletion23290073
    nsv832358CNV Gain17160897
    nsv469178CNV Gain19166990

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    (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.)
    About This Section

    REP15 for disorders           About MalaCards
    OMIM gene information: 610848    OMIM disorders: --


    REP15 for disorders           About GeneDecksing


    Export disorders for REP15 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 REP15 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with REP15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rab15 effector protein: a novel protein for receptor recycling from the endocytic recycling compartment. (PubMed id 16195351)1, 2, 3, 9 Strick D.J. and Elferink L.A. (2005)
    2. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. 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)
    5. Functional properties of rab15 effector protein in endocytic recycling. (PubMed id 16473635)9 Elferink L.A. and Strick D.J. (2005)

    (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: 387849 HGNC: 33748 AceView: REP15 Ensembl:ENSG00000174236 euGenes: HUgn387849
    ECgene: REP15 H-InvDB: REP15

    (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 REP15 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for REP15 gene:
    Search GeneIP for patents involving REP15

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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