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REP15 Gene

protein-coding   GIFtS: 40
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009714.18  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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


See REP15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001025045.1  
ENSEMBL proteins: 
 ENSP00000310335  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR027985 Rab15_effector

Graphical View of Domain Structure for InterPro Entry Q6BDI9

ProtoNet protein and cluster: Q6BDI9


REP15 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: REP15_HUMAN, Q6BDI9
Function: Regulates transferrin receptor recycling from the endocytic recycling compartment

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI16195351
     
REP15 for ontologies           About GeneDecksing


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(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
REP15_HUMAN, Q6BDI9: Early endosome membrane. Note=Colocalizes with RAB11 and RAB15 to the endocytic recycling
compartment
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endosome5
cytosol1
endoplasmic reticulum1
extracellular1
mitochondrion1
nucleus1
peroxisome1
plasma membrane1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0010008endosome membrane IDA16195351
GO:0031901early endosome membrane IEA--
GO:0048471perinuclear region of cytoplasm IDA16195351
GO:0055037recycling endosome IDA16195351

REP15 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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for REP15
Interactions:

    Search GeneGlobe Interaction Network for REP15

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001881receptor recycling IMP16195351
GO:0033572transferrin transport IDA16195351

REP15 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 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--



(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 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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SwitchGear 3'UTR luciferase reporter plasmidREP15 3' UTR sequence
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Additional mRNA sequence: BC140921.1 

1 DOTS entry:

DT.105904 

8 AceView cDNA sequences:

AI001183 BX097453 AW294816 AL037381 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™, 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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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

REP15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

REP15 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.269836
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In Situ
Assay Products:
 

 
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for REP15 gene from Selected species (see all 7)    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
RAB15 effector protein
53(a)
1 ↔ 1
5(91543842-91544552)
tropical clawed frog
(Xenopus tropicalis)
Amphibia rep151 RAB15 effector protein 59.1(n)
48.91(a)
  100493421  XM_004920102.1  XP_004920159.1 


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)
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  --

(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 REP15 (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.)
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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)
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PubMed articles for REP15 gene integrated from 10 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. (Mol. Biol. Cell 2005)
  2. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. Functional properties of rab15 effector protein in endocytic recycling. (PubMed id 16473635)9 Elferink L.A. and Strick D.J. (Meth. Enzymol. 2005)

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

(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 REP15 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat REP15
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for REP15
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for REP15
 LSBio Antibodies in human, mouse, rat for REP15
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
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 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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