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ATRIP ATR interacting protein [ Homo sapiens (human) ]

Gene ID: 84126, updated on 5-Aug-2018

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; Vega:OTTHUMG00000133532
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

Genomic context

See ATRIP in Genome Data Viewer
Location:
3p21.31
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (48446710..48465655)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48488114..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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
NHGRI GWA Catalog
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog

Pathways from BioSystems

  • ATR Signaling, organism-specific biosystem (from WikiPathways)
    ATR Signaling, organism-specific biosystemThis pathway is modeled after Figure 1 in the article " ATR signalling: more than meeting at the fork" (See Bibliography). This pathway details the ATR signaling which commences when there is a gap i...
  • Activation of ATR in response to replication stress, organism-specific biosystem (from REACTOME)
    Activation of ATR in response to replication stress, organism-specific biosystemGenotoxic stress caused by DNA damage or stalled replication forks can lead to genomic instability. To guard against such instability, genotoxically-stressed cells activate checkpoint factors that ha...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Damage Response, organism-specific biosystem (from WikiPathways)
    DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
    miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...

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
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage checkpoint TAS
Traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
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)

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_001271022.1NP_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, DC402185
    Consensus CDS
    CCDS59450.1
    UniProtKB/Swiss-Prot
    Q8WXE1
    Related
    ENSP00000349620.6, ENST00000357105.10
    Conserved Domains (1) summary
    pfam16515
    Location:786
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
  2. NM_001271023.1NP_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, OTTHUMP00000210129, ENST00000412052.4, OTTHUMT00000344694
    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_032166.3NP_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, OTTHUMP00000164812, ENST00000346691.9, OTTHUMT00000257508
    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_130384.2NP_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)
    AF451323, BC030597, CB960784, DC402185
    Consensus CDS
    CCDS2768.1
    UniProtKB/Swiss-Prot
    Q8WXE1
    UniProtKB/TrEMBL
    A0A024R2U4
    Related
    ENSP00000323099.3, OTTHUMP00000164811, ENST00000320211.9, OTTHUMT00000257507
    Conserved Domains (1) summary
    cl26315
    Location:113212
    Tropomyosin_1; Tropomyosin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    48446710..48465655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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