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    ATRIP ATR interacting protein [ Homo sapiens (human) ]

    Gene ID: 84126, updated on 28-Aug-2021

    Summary

    Official Symbol
    ATRIPprovided by HGNC
    Official Full Name
    ATR interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:33499
    See related
    Ensembl:ENSG00000164053 MIM:606605
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Annotation information
    Note: GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1. The upstream coding region is represented by geneID 84126. [29 May 2007]
    Expression
    Broad expression in testis (RPKM 11.6), thyroid (RPKM 3.8) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ATRIP in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48446737..48467645)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48488141..48509044)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene plexin B1 Neighboring gene uncharacterized LOC105377077 Neighboring gene coiled-coil domain containing 51 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene three prime repair exonuclease 1 Neighboring gene shisa family member 5 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene microRNA 6823

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    GeneReviews: Not available
    Joint influence of small-effect genetic variants on human longevity.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough ATRIP-TREX1

    Readthrough gene: ATRIP-TREX1, Included gene: TREX1

    Homology

    Clone Names

    • FLJ12343, MGC20625, MGC21482, MGC26740, DKFZp762J2115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K63-linked polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA damage checkpoint signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ATR-interacting protein
    Names
    ATM and Rad3-related-interacting protein
    NP_001257951.1
    NP_001257952.1
    NP_115542.2
    NP_569055.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041782.1 RefSeqGene

      Range
      5001..23946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271022.2NP_001257951.1  ATR-interacting protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region, contains an alternate internal exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC134772, AK300548, BC030597
      Consensus CDS
      CCDS59450.1
      UniProtKB/Swiss-Prot
      Q8WXE1
      Related
      ENSP00000489041.2, ENST00000634384.2
      Conserved Domains (1) summary
      pfam16515
      Location:786
      HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    2. NM_001271023.2NP_001257952.1  ATR-interacting protein isoform 4

      See identical proteins and their annotated locations for NP_001257952.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC134772, BC030597
      Consensus CDS
      CCDS59449.1
      UniProtKB/Swiss-Prot
      Q8WXE1
      Related
      ENSP00000400930.1, ENST00000412052.4
      Conserved Domains (1) summary
      cl09111
      Location:20114
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. NM_032166.4NP_115542.2  ATR-interacting protein isoform 2

      See identical proteins and their annotated locations for NP_115542.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC134772, BC014153, DC402185
      Consensus CDS
      CCDS2767.1
      UniProtKB/Swiss-Prot
      Q8WXE1
      UniProtKB/TrEMBL
      A0A024R307
      Related
      ENSP00000302338.5, ENST00000346691.9
      Conserved Domains (1) summary
      cl09111
      Location:113207
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    4. NM_130384.3NP_569055.1  ATR-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_569055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC134772, AF451323, BC030597, CB960784, DC402185
      Consensus CDS
      CCDS2768.1
      UniProtKB/Swiss-Prot
      Q8WXE1
      UniProtKB/TrEMBL
      A0A024R2U4
      Related
      ENSP00000323099.3, ENST00000320211.10
      Conserved Domains (1) summary
      pfam12718
      Location:113212
      Tropomyosin_1; Tropomyosin like

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      48446737..48467645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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