Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

REPS1 Gene

protein-coding   GIFtS: 52
GCID: GC06M139267

RALBP1 associated Eps domain containing 1

 Explore 2 diseases affiliated with
REPS1 via our new
 Human Malady Compendium 
Biological research products
for REPS1
    

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

Aliases
RALBP1 Associated Eps Domain Containing 11 2
RalBP1-Interacting Protein 12 3
RALBP12
RalBP1-Associated Eps Domain-Containing Protein 12

External Ids:    HGNC: 155781   Entrez Gene: 850212   Ensembl: ENSG000001355977   OMIM: 6148255   UniProtKB: Q96D713   

Export aliases for REPS1 gene to outside databases

Previous GC identifers: GC06M138848 GC06M139073 GC06M139206 GC06M136787


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

UniProtKB/Swiss-Prot: REPS1_HUMAN, Q96D71
Function: May coordinate the cellular actions of activated EGF receptors and Ral-GTPases (By similarity)

Gene Wiki entry for REPS1


(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the REPS1 gene promoter:
         Pbx1a   AP-2alpha isoform 3   FOXO3   AP-2alpha isoform 2   C/EBPalpha   FOXO4   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): REPS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for REPS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat REPS1


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

Entrez Gene cytogenetic band: 6q24.1   Ensembl cytogenetic band:  6q24.1   HGNC cytogenetic band: 6q24.1

REPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
REPS1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M139267:  view genomic region     (about GC identifiers)

Start:
139,224,630 bp from pter      End:
139,309,398 bp from pter
Size:
84,769 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: REPS1_HUMAN, Q96D71 (See protein sequence)
Recommended Name: RalBP1-associated Eps domain-containing protein 1  
Size: 796 amino acids; 86662 Da
Subunit: Homodimer (Potential). Interacts with RAB11FIP2. Interacts with RALBP1, CRK and GRB2. Binding to RALBP1 does
not affect its Ral-binding activity. Forms a complex with the SH3 domains of CRK and GRB2 which may link it to an
EGF-responsive tyrosine kinase (By similarity). Interacts with AMPH, ITSN1 (via SH3 domains) and SGIP1; may be
involved in clathrin-mediated endocytosis
Subcellular location: Membrane, clathrin-coated pit. Note=Colocalize with ITSN1 at the plasma membrane in structures
that are most probably clathrin-coated pits
Sequence caution: Sequence=AAH12764.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH21211.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAK34942.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B7ZBZ8 B7ZBZ9 B7ZC00 Q5JWJ5 Q5JWJ6 Q5JWJ7 Q8NDR7 Q8WU62 Q9BXY9
Alternative splicing: 3 isoforms:  Q96D71-1   Q96D71-2   Q96D71-3   

Explore the universe of human proteins at neXtProt for REPS1: NX_Q96D71

Post-translational modifications:

  • EGF stimulates phosphorylation on Tyr-residues (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96D71

  • REPS1 Protein expression data from MOPED and PaxDb:    About this image 
    REPS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001122089.1  NP_114128.3  

    ENSEMBL proteins: 
     ENSP00000392065   ENSP00000356635   ENSP00000434251   ENSP00000401729   ENSP00000432157  
     ENSP00000435392   ENSP00000386699   ENSP00000258062   ENSP00000397941   ENSP00000435236  
     ENSP00000435131   ENSP00000402609   ENSP00000403740   ENSP00000431474  

    Human Recombinant Protein Products for REPS1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: REPS1
    OriGene Custom Protein Services for REPS1 
    GenScript Custom Purified and Recombinant Proteins Services for REPS1
    Novus Biologicals REPS1 Protein
    Novus Biologicals REPS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for REPS1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0005905coated pit IDA--

    REPS1 for ontologies           About GeneDecksing



    REPS1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for REPS1 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for REPS1 
    GenScript Custom Superior Antibodies Services for REPS1
    Novus Biologicals REPS1 Antibodies
    Abcam antibodies for REPS1 
    Uscn Antibodies for REPS1
    Search ThermoFisher Antibodies for REPS1

    Assay Products for REPS1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for REPS1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for REPS1


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

    REPS1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR026814 Reps
     IPR000261 EPS15_homology
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q96D71

    ProtoNet protein and cluster: Q96D71

    1 Blocks protein family: IPB000261 EPS15 homology (EH)

    UniProtKB/Swiss-Prot: REPS1_HUMAN, Q96D71
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 2 EH domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: REPS1_HUMAN, Q96D71
    Function: May coordinate the cellular actions of activated EGF receptors and Ral-GTPases (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0017124SH3 domain binding IPI--
         
    REPS1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for REPS1 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): REPS1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat REPS1
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate REPS1 (see all 14):
    hsa-miR-3163 hsa-miR-495 hsa-miR-409-3p hsa-miR-513a-5p hsa-miR-27a hsa-miR-3065-5p hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidREPS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for REPS1 (see all 6)
    OriGene shRNA RFP: REPS1
    OriGene siRNA: REPS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat REPS1
    Sirion Biotech Custom design and validation of potent shRNA sequences against REPS1 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for REPS1
    Sirion Biotech Customized adenovirus for overexpression of REPS1 
    Sirion Biotech Customized adenovirus for potent knockdown of REPS1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for REPS1 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for REPS1 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): REPS1 (NM_031922)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for REPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat REPS1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for REPS1
    Search LifeMap BioReagents cell lines for REPS1
    Sirion Biotech Customized stable knockdown cell line services for REPS1 
    Sirion Biotech Customized inducible knockdown cell line services for REPS1
    Sirion Biotech Customized stable overexpressing cell line services for REPS1
    Sirion Biotech Customized inducible overexpressing cell line services for REPS1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REPS1


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeleton remodeling_RalB regulation pathway
    Cytoskeleton remodeling_RalB regulation pathway1.00
    Cytoskeleton remodeling_RalA regulation pathway0.23
    Cytoskeleton remodeling RalB regulation pathway1.00
    Cytoskeleton remodeling RalA regulation pathway0.23
    2Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    3EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for REPS1
        Cytoskeleton remodeling RalB regulation pathway
    Cytoskeleton remodeling RalA regulation pathway


    1 Cell Signaling Technology (CST) Pathway for REPS1
        Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for REPS1
        Cytoskeleton remodeling RalB regulation pathway
    Cytoskeleton remodeling RalA regulation pathway

    1 BioSystems Pathway for REPS1 
        EGFR1 Signaling Pathway



    REPS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for REPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/22 Interacting proteins for REPS1 (Q96D712, 3 ENSP000002580624) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STON2Q8WXE92, 3, ENSP000002675404MINT-6180180 I2D: score=1 STRING: ENSP00000267540
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    RALBP112343, ENSP000002725194I2D: score=1 STRING: ENSP00000272519
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    RALAP112333, ENSP000000052574I2D: score=1 STRING: ENSP00000005257
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006898receptor-mediated endocytosis IEA--

    REPS1 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 REPS1
    Search CenterWatch for drugs/clinical trials and news about REPS1 

    (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, Sirion Biotech, 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 REPS1 gene (2 alternative transcripts): 
    NM_001128617.1  NM_031922.3  

    Unigene Cluster for REPS1:

    RALBP1 associated Eps domain containing 1
    Hs.334603  [show with all ESTs]
    Unigene Representative Sequence: NM_031922
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000450536(uc003qig.4 uc011edr.2 uc003qii.3 uc003qij.3 uc003qik.3)
    ENST00000367663 ENST00000529597 ENST00000445570 ENST00000478483 ENST00000483468
    ENST00000484164 ENST00000409812 ENST00000258062 ENST00000415951 ENST00000526022
    ENST00000526244 ENST00000492787 ENST00000530370 ENST00000529423 ENST00000530255
    ENST00000431346 ENST00000414243

    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 2): REPS1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat REPS1
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate REPS1 (see all 14):
    hsa-miR-3163 hsa-miR-495 hsa-miR-409-3p hsa-miR-513a-5p hsa-miR-27a hsa-miR-3065-5p hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidREPS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for REPS1 (see all 6)
    OriGene shRNA RFP: REPS1
    OriGene siRNA: REPS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat REPS1
    Sirion Biotech Custom design and validation of potent shRNA sequences against REPS1 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for REPS1 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for REPS1 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): REPS1 (NM_031922)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for REPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat REPS1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for REPS1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat REPS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat REPS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat REPS1

    Additional cDNA sequence: 

    AF251052.1 AJ420514.1 AK024197.1 AK312938.1 AL049259.1 AL831900.1 AL832307.1 BC012764.2 
    BC021211.2 BC035286.1 

    17 DOTS entries:

    DT.100817834  DT.100803897  DT.452607  DT.100817833  DT.102819990  DT.95376041  DT.40195577  DT.438627 
    DT.121386629  DT.91754438  DT.92063003  DT.95204334  DT.91757382  DT.97793778  DT.100817836  DT.204817 
    DT.97785237 

    24/196 AceView cDNA sequences (see all 196):

    AW166925 AI423894 BF196605 AK024197 BE816114 AU122612 AL832307 BC021211 
    AA992764 AA252356 AI498688 AI356864 BM544600 BP378206 AI598116 AI755062 
    BC035286 AI652427 BU902362 BF970935 CR592162 BM980286 F02297 BP376469 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for REPS1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^
    SP1:                                                                          -                                   -     -           -                       -   
    SP2:                                                                          -                                   -     -           -                       -   
    SP3:                                                                          -     -                             -     -           -                       -   
    SP4:                                                                          -     -                       -     -     -     -     -                       -   
    SP5:                                                                                                                                -                           

    ExUns: 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for REPS1

    (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

    REPS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    REPS1 Expression
    About this image
    See REPS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for REPS1

    SOURCE GeneReport for Unigene cluster: Hs.334603

    UniProtKB/Swiss-Prot: REPS1_HUMAN, Q96D71
    Tissue specificity: Widely expressed with highest levels in heart and testis

        SABiosciences Custom PCR Arrays for REPS1
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for REPS1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat REPS1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat REPS1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat REPS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REPS1

    (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 eukaryotes.

    Orthologs for REPS1 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves REPS11 RALBP1 associated Eps domain containing 1 85.07(n)
    89.82(a)
      421678  NM_001012877.1  NP_001012895.1 
    lizard
    (Anolis carolinensis)
    Reptilia REPS16
    --
    84(a)
    1 ↔ 1
    GL343200.1(944814-1015009)
    zebrafish
    (Danio rerio)
    Actinopterygii reps11 RALBP1 associated Eps domain containing 1 69.4(n)
    73.15(a)
      564535  NM_001045056.2  NP_001038521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Reps1 CG6192-PA 41.05(n)
    31.18(a)
      34542  NM_135643.3  NP_609487.2 
    worm
    (Caenorhabditis elegans)
    Secernentea reps-16
    REPS (RalBP1-associated Eps domain-containing prot...
    14(a)
    1 → many
    V(18986430-18990380)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G216306
    AT1G207606
    calcium-binding EF hand-containing protein
    9(a)
    11(a)
    many ↔ many
    many ↔ many
    1(7581084-7588151)
    1(7209369-7214993)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    EF hand family protein, putative, expressed
    9(a)
    8(a)
    many ↔ many
    many ↔ many
    6(31012733-31020756)
    3(1719030-1726903)


    ENSEMBL Gene Tree for REPS1 (if available)
    TreeFam Gene Tree for REPS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for REPS1 gene
    REPS22  
    2 SIMAP similar genes for REPS1 using alignment to 11 protein entries:     REPS1_HUMAN (see all proteins):
    ITSN1    ITSN2

    REPS1 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

    10/1489 NCBI SNPs in REPS1 are shown (see all 1489    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1877353771,2
    --139225124(+) AACTTC/TAAATC 4 -- ut31 ds50010--------
    rs1929038371,2
    --139225557(+) AATTAC/TTGAAT 4 -- ds50010--------
    rs1831169091,2
    --139225577(+) TAGTTC/TGAAGT 4 -- ds50010--------
    rs1873118911,2
    --139225625(+) TAAAAA/TCTCAC 4 -- ut31 ds50010--------
    rs2017192511,2
    --139225631(+) CTCAC-/ATGTTTG 4 -- ds5001 ut310--------
    rs1919466321,2
    --139225686(+) CATGAC/TTTGTG 4 -- ut31 ds50010--------
    rs117585021,2
    C,H--139225791(+) TTTCTA/GAAGAT 2 -- ut310--------
    rs1484337851,2
    C--139225801(+) TTTTT-/ATAGA 
            
    ATAGA
    2 -- ut310--------
    rs1891498031,2
    --139225807(+) TAGAAC/TAGATG 2 -- ut310--------
    rs126191,2
    C,F,O,A,H--139225925(+) TATTAG/TCCATA 2 -- ut31 ese329Minor allele frequency- T:0.43MN NA NS EA WA CSA 3045

    HapMap Linkage Disequilibrium report for REPS1 (139224630 - 139309398 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for REPS1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing REPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for REPS1

    (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

    REPS1 for disorders           About GeneDecksing

    OMIM gene information: 614825    OMIM disorders: --

    2 diseases for REPS1:    About MalaCards
    down syndrome    breast cancer


    Export disorders for REPS1 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 REPS1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with REPS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression and characterization of a novel human REPS1 gene. (PubMed id 11750063)1, 2, 9 Xu J....Mao Y. (2001)
    2. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PubMed id 20946875)1, 2 Dergai O....Rynditch A. (2010)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. Rab11-FIP2, an adaptor protein connecting cellular components involved in internalization and recycling of epidermal growth factor receptors. (PubMed id 12364336)1, 2 Cullis D.N.... Feig L.A. (2002)
    6. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)

    (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: 85021 HGNC: 15578 AceView: REPS1 Ensembl:ENSG00000135597 euGenes: HUgn85021
    ECgene: REPS1 H-InvDB: REPS1

    (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 REPS1 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 REPS1 gene:
    Search GeneIP for patents involving REPS1

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for REPS1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for REPS1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for REPS1  
     OriGene Protein Over-expression Lysate for REPS1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for REPS1   OriGene 3'-UTR Clone for REPS1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for REPS1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for REPS1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for REPS1   OriGene Custom Protein Services for REPS1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat REPS1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing REPS1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat REPS1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat REPS1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat REPS1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat REPS1
     GenScript Custom Purified and Recombinant Proteins Services for REPS1 GenScript cDNA clones with any tag delivered in your preferred vector for REPS1
     GenScript Custom Assay Services for REPS1 GenScript Custom Superior Antibodies Services for REPS1
     GenScript Custom overexpressing Cell Line Services for REPS1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for REPS1 

     Regulatory tfbs in REPS1 promoter
     Search Chromatin IP Primers for REPS1
     RT2 qPCR Primer Assay in human, mouse, rat REPS1
     GNC Network for REPS1
     SABiosciences Custom PCR Arrays for REPS1
     Search Tocris compounds for REPS1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     REPS1 antibodies
     REPS1 proteins
     REPS1 lysates
     Antibodies for REPS1
     See all of Abcam's Antibodies, Kits and Proteins for REPS1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     REPS1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for REPS1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REPS1
     SwitchGear 3'UTR luciferase reporter plasmids for REPS1
     SwitchGear Promoter luciferase reporter plasmids for REPS1
     Search ThermoFisher Antibodies for REPS1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat REPS1
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for REPS1
    Sirion Biotech Customized:
     stable knockdown cell line services for REPS1
     inducible knockdown cell line services for REPS1
     design and validation of potent shRNA sequences against REPS1
     adenovirus for potent knockdown of REPS1
     adenovirus for overexpression of REPS1
     stable overexpressing cell line services for REPS1
     inducible overexpressing cell line services for REPS1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      REPS1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4