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

ATRIP Gene

protein-coding   GIFtS: 55
GCID: GC03P048488

ATR Interacting Protein

  See related diseases
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
ATR Interacting Protein1 2
ATM And Rad3-Related-Interacting Protein2 3
ATR-Interacting Protein2
AGS13

External Ids:    HGNC: 334991   Entrez Gene: 841262   Ensembl: ENSG000001640537   OMIM: 6066055   UniProtKB: Q8WXE13   

Export aliases for ATRIP gene to outside databases

Previous GC identifers: GC03U900864 GC03P048464 GC03P048465


(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 ATRIP Gene:
This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to
single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia
and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug
2012)

GeneCards Summary for ATRIP Gene: 
ATRIP (ATR interacting protein) is a protein-coding gene. Diseases associated with ATRIP include ataxia telangiectasia, and sporadic breast cancer, and among its related super-pathways are G2/M Checkpoints and Cell Cycle / Checkpoint Control. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: ATRIP_HUMAN, Q8WXE1
Function: Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing
the protein




(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_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATRIP gene promoter:
         CREB   SRF   NF-1   p53   deltaCREB   SRF (504 AA)   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ATRIP

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


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p24.3-p22.1

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P048488:  view genomic region     (about GC identifiers)

Start:
48,488,114 bp from pter      End:
48,507,115 bp from pter
Size:
19,002 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: ATRIP_HUMAN, Q8WXE1 (See protein sequence)
Recommended Name: ATR-interacting protein  
Size: 791 amino acids; 85838 Da
Subunit: Interacts with ATR (By similarity). Heterodimer with ATR. The heterodimer binds the RPA complex and is
then recruited to single stranded DNA. Interacts with CEP164 (via N-terminus). Interacts with CINP
Subcellular location: Nucleus. Note=Redistributes to discrete nuclear foci upon DNA damage
Caution: The gene for this protein is either identical to or adjacent to that of TREX1. Some of the mRNAs that
encode ATRIP also encode TREX1 in another reading frame
Sequence caution: Sequence=BAB14029.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14029.1; Type=Frameshift; Positions=650; Sequence=BAF84257.1; Type=Erroneous initiation;
Secondary accessions: A8K6A3 A8K714 B2RCE7 B4DU92 B5MEB7 Q69YK9 Q8NHQ2 Q8WUG7 Q96CL3 Q9HA30
Alternative splicing: 4 isoforms:  Q8WXE1-1   Q8WXE1-2   Q8WXE1-3   Q8WXE1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATRIP: NX_Q8WXE1

Explore proteomics data for ATRIP at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by ATR
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WXE1

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

    ATRIP Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001257951.1  NP_001257952.1  NP_115542.2  NP_569055.1  

    ENSEMBL proteins: 
     ENSP00000406664   ENSP00000402340   ENSP00000323099   ENSP00000302338   ENSP00000401761  
     ENSP00000400930   ENSP00000349620  
    Reactome Protein details: Q8WXE1
    Human Recombinant Protein Products for ATRIP: 
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    OriGene Protein Over-expression Lysate for ATRIP
    OriGene MassSpec for ATRIP 
    OriGene Custom Protein Services for ATRIP
    GenScript Custom Purified and Recombinant Proteins Services for ATRIP
    Novus Biologicals ATRIP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATRIP 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--

    ATRIP for ontologies           About GeneDecksing



    ATRIP Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ATRIP 

    Assay Products for ATRIP: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATRIP 
    Cloud-Clone Corp. CLIAs for ATRIP


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

    ProtoNet protein and cluster: Q8WXE1

    UniProtKB/Swiss-Prot: ATRIP_HUMAN, Q8WXE1
    Domain: The EEXXXDDL motif is required for the interaction with catalytic subunit PRKDC and its recruitment to
    sites of DNA damage
    Similarity: Belongs to the ATRIP family


    (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: ATRIP_HUMAN, Q8WXE1
    Function: Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing
    the protein

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14657349
         
    ATRIP for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Atrip (no phenotypes)

    ATRIP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATRIP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATRIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATRIP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATRIP 

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ATRIP:
    hsa-miR-34a* hsa-miR-1227
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ATRIP (NM_130384)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATRIP
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATRIP


    (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

    SuperPaths for ATRIP About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of ATR in response to replication stress
    G2/M Checkpoints0.86
    Activation of ATR in response to replication stress0.86
    2DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    3DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage ATM/ATR regulation of G1/S checkpoint0.98
    4Cell Cycle
    Cell Cycle0.84
    5CDK-mediated phosphorylation and removal of Cdc6
    Cell Cycle Checkpoints0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ATRIP
        DNA damage ATM/ATR regulation of G1/S checkpoint

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ATRIP
        DNA Repair Mechanisms

    2 Cell Signaling Technology (CST) Pathways for ATRIP
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for ATRIP
        DNA damage ATM/ATR regulation of G1/S checkpoint

    1 BioSystems Pathway for ATRIP
        DNA damage response

    5        Reactome Pathways for ATRIP
        Activation of ATR in response to replication stress
    Cell Cycle
    G2/M Checkpoints
    Cell Cycle Checkpoints
    G2/M DNA damage checkpoint


    1         Kegg Pathway  (Kegg details for ATRIP):
        Fanconi anemia pathway


    ATRIP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATRIP

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

    5/67 Interacting proteins for ATRIP (Q8WXE12, 3 ENSP000003230994) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK9P507502, 3, ENSP000003623614MINT-8058032 MINT-8058048 MINT-8058001 I2D: score=1 STRING: ENSP00000362361
    ATRQ135352, 3, ENSP000003437414MINT-8058048 MINT-8058001 I2D: score=3 STRING: ENSP00000343741
    IKBKGQ9Y6K92, 3, ENSP000003586224MINT-6978719 I2D: score=1 STRING: ENSP00000358622
    CHEK1O147572, 3, ENSP000002789164MINT-8043584 I2D: score=1 STRING: ENSP00000278916
    CLSPNQ9HAW42, ENSP000003129954MINT-8058048 MINT-8058001 STRING: ENSP00000312995
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint TAS14657349
    GO:0006260DNA replication TAS--
    GO:0006281DNA repair IEA--

    ATRIP 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATRIP

    Search CenterWatch for drugs/clinical trials and news about ATRIP

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATRIP gene (4 alternative transcripts): 
    NM_001271022.1  NM_001271023.1  NM_032166.3  NM_130384.2  

    Unigene Cluster for ATRIP:

    ATR interacting protein
    Hs.694840  [show with all ESTs]
    Unigene Representative Sequence: BC030597
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421175 ENST00000454733 ENST00000320211(uc003ctf.1) ENST00000346691(uc003ctg.1)
    ENST00000424906 ENST00000412052 ENST00000491468 ENST00000357105(uc011bbj.1)

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ATRIP:
    hsa-miR-34a* hsa-miR-1227
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATRIP
    Clone
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    OriGene clones in human, mouse for ATRIP (see all 12)
    OriGene ORF clones in mouse, rat for ATRIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ATRIP (NM_130384)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATRIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATRIP
    Sirion Biotech Customized lentivirus for stable overexpression of ATRIP 
                         Customized lentivirus expression plasmids for stable overexpression of ATRIP 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATRIP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATRIP

    Additional mRNA sequence: 

    AF451323.1 AK022405.1 AK291568.1 AK291829.1 AK300548.1 AK315075.1 AL832917.1 BC014153.2 
    BC020563.2 BC030597.2 

    11 DOTS entries:

    DT.95207289  DT.112143  DT.120906357  DT.92427781  DT.100788185  DT.403585  DT.91804693  DT.100788188 
    DT.100694242  DT.120906011  DT.75173218 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATRIP (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
    SP1:        -                                               -                             -                                                                     
    SP2:        -                                               -                       -     -                                                                     
    SP3:                                                        -                       -     -                                                                     
    SP4:        -                                               -                       -     -                 -                                                   
    SP5:                                                        -                       -     -                                                                     


    ECgene alternative splicing isoforms for ATRIP

    (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

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


    ATRIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Respiratory System)    fully expand to see all 3 entries
             lung ; macrophages   
             umbilical cord reticulocytes   

    See ATRIP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATRIP

    SOURCE GeneReport for Unigene cluster: Hs.694840

    UniProtKB/Swiss-Prot: ATRIP_HUMAN, Q8WXE1
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including ATRIP: 
              DNA Damage Signaling Pathway in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATRIP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATRIP

    (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 ATRIP gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atrip1 , 5 ATR interacting protein1, 5 81.52(n)1
    75.54(a)1
      9 (59.63 cM)5
    2356101  NM_172774.31  NP_766362.21 
     1090579335 
    chicken
    (Gallus gallus)
    Aves ATRIP1 ATR interacting protein 57.6(n)
    48.79(a)
      415949  XM_414293.3  XP_414293.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATRIP6
    ATR interacting protein
    41(a)
    1 ↔ 1
    2(155927561-155954229)
    zebrafish
    (Danio rerio)
    Actinopterygii atrip1 ATR interacting protein 50.17(n)
    41.97(a)
      558534  NM_001044867.2  NP_001038332.1 


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

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

    ATRIP for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATRIP
    PGOHUM00000259849


    (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

    10/354 SNPs in ATRIP are shown (see all 354)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs764949401,2
    C,F--48486187(+) GTTGCT/CAGCAG 3 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1495934511,2
    C--48486206(+) CCATGC/TGCACC 3 -- us2k10--------
    rs1835284471,2
    --48486364(+) CCTACC/TGCTTG 3 -- us2k10--------
    rs106632631,2
    C--48486591(+) AAATT-/AATT  
            
    CAGAA
    4 -- us2k1 trp30--------
    rs674384591,2
    C--48486592(+) AAAAA-/AATT  
            
    ATTCA
    4 -- us2k10--------
    rs1893419501,2
    C--48486763(+) TACTAA/GATATT 4 -- us2k10--------
    rs18704441,2
    C,F,A,H--48486773(+) TAACGG/CGGGAG 4 -- us2k1 tfbs3 trp39Minor allele frequency- C:0.41NA WA CSA EA 369
    rs1822323761,2
    --48487032(+) ATGCAA/GCACTT 4 -- us2k10--------
    rs7305661,2
    C,F,H--48487048(-) CGTCAG/TATAGC 4 -- us2k137Minor allele frequency- T:0.32NA EA MN NS WA 4675
    rs1483198811,2
    --48487058(+) GGAGAA/CTACCA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATRIP (48488114 - 48507115 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATRIP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508917CNV Insertion20534489
    nsv876761CNV Loss21882294
    nsv834683CNV Gain17160897
    nsv834684CNV Gain17160897


    Human Gene Mutation Database (HGMD): ATRIP
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATRIP
    DNA2.0 Custom Variant and Variant Library Synthesis for ATRIP

    (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
    OMIM gene information: 606605    OMIM disorders: --

    9 diseases for ATRIP:    About MalaCards
    ataxia telangiectasia    sporadic breast cancer    ataxia    prion disease
    fanconi's anemia    herpes simplex    anemia    ovarian cancer
    breast cancer


    ATRIP for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATRIP
    Human Genome Epidemiology (HuGE) Navigator: ATRIP (6 documents)

    Export disorders for ATRIP 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 ATRIP gene, integrated from 9 sources (see all 71):
    (articles sorted by number of sources associating them with ATRIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ATR and ATRIP: partners in checkpoint signaling. (PubMed id 11721054)1, 2, 3 Cortez D.... Elledge S.J. (2001)
    2. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (PubMed id 22210626)1, 4 Mead S....Collinge J. (2012)
    3. Joint influence of small-effect genetic variants on h uman longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (2009)
    6. Functional genomic screens identify CINP as a genome maintenance protein. (PubMed id 19889979)1, 2 Lovejoy C.A.... Cortez D. (2009)
    7. Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. (PubMed id 18283122)1, 2 Sivasubramaniam S.... Lee E.Y. (2008)
    8. The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells. (PubMed id 17203973)1, 2 Vasilescu J.... Figeys D. (2007)
    9. Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. (PubMed id 15758953)1, 2 Falck J.... Jackson S.P. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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: 84126 HGNC: 33499 Ensembl:ENSG00000164053 euGenes: HUgn84126 ECgene: ATRIP Kegg: 84126
    H-InvDB: ATRIP

    (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 ATRIP 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 ATRIP gene:
    Search GeneIP for patents involving ATRIP

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



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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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