LOCUS       NM_130384               4576 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens ATR interacting protein (ATRIP), transcript variant 1,
            mRNA.
ACCESSION   NM_130384
VERSION     NM_130384.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4576)
  AUTHORS   Cybulski,C., Zamani,N., Kluzniak,W., Milano,L., Wokolorczyk,D.,
            Stempa,K., Rudnicka,H., Zhang,S., Zadeh,M., Huzarski,T.,
            Jakubowska,A., Debniak,T., Lener,M., Szwiec,M., Domagala,P.,
            Samani,A.A., Narod,S., Gronwald,J., Masson,J.Y., Lubinski,J. and
            Akbari,M.R.
  TITLE     Variants in ATRIP are associated with breast cancer susceptibility
            in the Polish population and UK Biobank
  JOURNAL   Am J Hum Genet 110 (4), 648-662 (2023)
   PUBMED   36977412
  REMARK    GeneRIF: Variants in ATRIP are associated with breast cancer
            susceptibility in the Polish population and UK Biobank.
REFERENCE   2  (bases 1 to 4576)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 4576)
  AUTHORS   Matos-Rodrigues,G.E., Grigaravicius,P., Lopez,B.S., Hofmann,T.G.,
            Frappart,P.O. and Martins,R.A.P.
  TITLE     ATRIP protects progenitor cells against DNA damage in vivo
  JOURNAL   Cell Death Dis 11 (10), 923 (2020)
   PUBMED   33110058
  REMARK    GeneRIF: ATRIP protects progenitor cells against DNA damage in
            vivo.
            Erratum:[Cell Death Dis. 2020 Dec 15;11(12):1074. doi:
            10.1038/s41419-020-03227-w.. PMID: 33323930]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4576)
  AUTHORS   Feng,W.
  TITLE     Mec1/ATR, the Program Manager of Nucleic Acids Inc
  JOURNAL   Genes (Basel) 8 (1), 10 (2016)
   PUBMED   28036033
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4576)
  AUTHORS   Bomgarden,R.D., Yean,D., Yee,M.C. and Cimprich,K.A.
  TITLE     A novel protein activity mediates DNA binding of an ATR-ATRIP
            complex
  JOURNAL   J Biol Chem 279 (14), 13346-13353 (2004)
   PUBMED   14724280
  REMARK    GeneRIF: there are at least two in vitro ATR-ATRIP DNA binding
            complexes, one which binds DNA with high affinity in an
            RPA-dependent manner and a second, which binds DNA with lower
            affinity in an RPA-independent manner
REFERENCE   6  (bases 1 to 4576)
  AUTHORS   Wang,Y. and Qin,J.
  TITLE     MSH2 and ATR form a signaling module and regulate two branches of
            the damage response to DNA methylation
  JOURNAL   Proc Natl Acad Sci U S A 100 (26), 15387-15392 (2003)
   PUBMED   14657349
REFERENCE   7  (bases 1 to 4576)
  AUTHORS   Zou,L. and Elledge,S.J.
  TITLE     Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes
  JOURNAL   Science 300 (5625), 1542-1548 (2003)
   PUBMED   12791985
  REMARK    GeneRIF: data suggest that RPA-coated ssDNA is the critical
            structure at sites of DNA damage that recruits the ATR-ATRIP
            complex and facilitates its recognition of substrates for
            phosphorylation and the initiation of checkpoint signaling
REFERENCE   8  (bases 1 to 4576)
  AUTHORS   Cortez,D., Guntuku,S., Qin,J. and Elledge,S.J.
  TITLE     ATR and ATRIP: partners in checkpoint signaling
  JOURNAL   Science 294 (5547), 1713-1716 (2001)
   PUBMED   11721054
REFERENCE   9  (bases 1 to 4576)
  AUTHORS   Mazur,D.J. and Perrino,F.W.
  TITLE     Structure and expression of the TREX1 and TREX2 3' --> 5'
            exonuclease genes
  JOURNAL   J Biol Chem 276 (18), 14718-14727 (2001)
   PUBMED   11278605
REFERENCE   10 (bases 1 to 4576)
  AUTHORS   Verloes,A., Drunat,S., Gressens,P. and Passemard,S.
  TITLE     Primary Autosomal Recessive Microcephalies and Seckel Syndrome
            Spectrum Disorders - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301772
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC402185.1, CB960784.1,
            AF451323.1, BC030597.2 and AC134772.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_130384.2.
            
            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].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.137357.1,
                                           SRR1803611.189526.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320211.10/ ENSP00000323099.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                DC402185.1         28-90
            64-77               CB960784.1         102-115
            78-2585             AF451323.1         1-2508
            2586-2586           BC030597.2         2660-2660
            2587-4576           AC134772.2         79334-81323
FEATURES             Location/Qualifiers
     source          1..4576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..4576
                     /gene="ATRIP"
                     /note="ATR interacting protein"
                     /db_xref="GeneID:84126"
                     /db_xref="HGNC:HGNC:33499"
                     /db_xref="MIM:606605"
     exon            1..356
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..2485
                     /gene="ATRIP"
                     /note="isoform 1 is encoded by transcript variant 1; ATM
                     and Rad3-related-interacting protein"
                     /codon_start=1
                     /product="ATR-interacting protein isoform 1"
                     /protein_id="NP_569055.1"
                     /db_xref="CCDS:CCDS2768.1"
                     /db_xref="GeneID:84126"
                     /db_xref="HGNC:HGNC:33499"
                     /db_xref="MIM:606605"
                     /translation="MAGTSAPGSKRRSEPPAPRPGPPPGTGHPPSKRARGFSAAAAPD
                     PDDPFGAHGDFTADDLEELDTLASQALSQCPAAARDVSSDHKVHRLLDGMSKNPSGKN
                     RETVPIKDNFELEVLQAQYKELKEKMKVMEEEVLIKNGEIKILRDSLHQTESVLEEQR
                     RSHFLLEQEKTQALSDKEKEFSKKLQSLQSELQFKDAEMNELRTKLQTSERANKLAAP
                     SVSHVSPRKNPSVVIKPEACSPQFGKTSFPTKESFSANMSLPHPCQTESGYKPLVGRE
                     DSKPHSLRGDSIKQEEAQKSFVDSWRQRSNTQGSILINLLLKQPLIPGSSLSLCHLLS
                     SSSESPAGTPLQPPGFGSTLAGMSGLRTTGSYDGSFSLSALREAQNLAFTGLNLVARN
                     ECSRDGDPAEGGRRAFPLCQLPGAVHFLPLVQFFIGLHCQALQDLAAAKRSGAPGDSP
                     THSSCVSSGVETNPEDSVCILEGFSVTALSILQHLVCHSGAVVSLLLSGVGADSAAGE
                     GNRSLVHRLSDGDMTSALRGVADDQGQHPLLKMLLHLLAFSSAATGHLQASVLTQCLK
                     VLVKLAENTSCDFLPRFQCVFQVLPKCLSPETPLPSVLLAVELLSLLADHDQLAPQLC
                     SHSEGCLLLLLYMYITSRPDRVALETQWLQLEQEVVWLLAKLGVQSPLPPVTGSNCQC
                     NVEVVRALTVMLHRQWLTVRRAGGPPRTDQQRRTVRCLRDTVLLLHGLSQKDKLFMMH
                     CVEVLHQFDQVMPGVSMLIRGLPDVTDCEEAALDDLCAAETDVEDPEVECG"
     exon            357..490
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            491..661
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            662..780
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            781..938
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1034
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1164
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1854
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..1991
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1992..2083
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2084..2164
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2165..2417
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2418..4576
                     /gene="ATRIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2548..2553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATRIP"
                     /note="hexamer: ATTAAA"
     polyA_site      2586
                     /gene="ATRIP"
                     /note="major polyA site"
     regulatory      4553..4558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATRIP"
                     /note="hexamer: AATAAA"
     polyA_site      4576
                     /gene="ATRIP"
                     /note="major polyA site"
ORIGIN      
        1 actcgcggcg gaggcaagcg gcggcgcgcg gacggttggt ccagttctcc ggcctggcgg
       61 caggcaagtc tagctcggcg ctgtcggata cttggggtga gcggaaagca tggcggggac
      121 ctccgcgcca ggcagcaaga ggcggagcga gcccccggcg cctcgccccg gcccgccgcc
      181 gggcaccggg caccccccga gcaagcgggc ccggggcttc tccgcagccg ctgccccgga
      241 ccctgacgac ccgttcggcg cgcatgggga cttcactgcc gacgacctgg aggagcttga
      301 caccctcgcg tcacaggccc tgagccaatg tccggccgcg gctcgggacg tgtccagtga
      361 tcataaggtc cacagattat tagatggcat gtcaaaaaat ccttcaggga aaaacagaga
      421 aactgttcca attaaagata atttcgaatt agaggtactt caggcacaat acaaagaact
      481 taaagaaaag atgaaagtaa tggaagaaga agttctcatt aagaatggag aaattaaaat
      541 tttgcgagac tcactacatc agacggaatc cgttctagag gaacagagaa gatcacattt
      601 tcttcttgag caagagaaaa cccaagcact cagtgacaag gaaaaggaat tctccaaaaa
      661 gctccaatca ttgcagtctg aactccagtt taaagatgca gagatgaatg aattaaggac
      721 aaagctccag accagtgaac gagcaaataa actggctgct ccctctgttt cccatgtcag
      781 tcctaggaaa aacccttctg tggttataaa gccagaagca tgttctccac aatttggaaa
      841 aacatctttt cctacaaagg agtcttttag tgctaacatg tcccttcccc acccctgcca
      901 gacggagtca ggatacaagc ctctggtggg cagagaggat agtaagcccc acagtctgag
      961 aggtgactcc ataaaacaag aagaggccca gaaaagcttt gttgacagct ggagacagag
     1021 atcaaacact caaggttcca ttttgataaa cctgctcctg aagcagcctt tgatcccagg
     1081 gtcatcccta agcctttgcc acctcctgag tagtagttct gagtctcctg ctggcacccc
     1141 cctgcagcca ccagggtttg gcagtacctt ggctggaatg tcaggcctca ggaccacagg
     1201 ttcttatgat gggtcatttt ccctctcagc cctgagagaa gcacagaacc tggcattcac
     1261 tggactgaat ctggttgccc ggaatgagtg ctcacgtgat ggagacccag cagagggagg
     1321 cagaagggcc ttcccactct gccagcttcc tggagccgtg catttcctcc cccttgtaca
     1381 gttcttcatc ggcttacact gccaggccct gcaggacttg gcagctgcta agagaagcgg
     1441 agcacctggg gactcaccga cacattcctc ctgcgtgagc tctggggtag agaccaaccc
     1501 tgaggactca gtgtgcatcc tggaaggctt ctctgtgact gcacttagca ttcttcagca
     1561 cctggtgtgc cacagcggag cagtcgtctc cctattactg tcaggagtgg gggcagattc
     1621 tgctgctggg gaaggaaaca ggagcctggt tcacaggctt agtgatggag atatgacctc
     1681 agccctaagg ggggttgctg atgaccaagg acagcaccca ctgttgaaga tgcttcttca
     1741 cctgttggct ttctcttctg cagcaacagg tcaccttcaa gccagtgtcc tgacccagtg
     1801 ccttaaggtt ttggtgaaat tagccgaaaa cacttcctgt gatttcttgc ccaggttcca
     1861 gtgtgtgttc caagtgctgc caaagtgcct cagcccagag acacccctgc ctagcgtgct
     1921 gctggctgtt gagctcctct ccctgctggc ggaccacgac cagctggcac ctcagctctg
     1981 ttcccactca gaaggctgcc tcctgctgct gctgtacatg tacatcacat cacggcctga
     2041 cagagtggcc ttggagacac aatggctcca gctggaacaa gaggtggtgt ggctcctggc
     2101 taagcttggt gtgcagagcc ccttgccccc agtcactggc tccaactgcc agtgtaatgt
     2161 ggaggtggtc agagcgctca cggtgatgtt gcacagacag tggctgacag tgcggagggc
     2221 agggggaccc ccaaggaccg accagcagag gcggacagtg cgctgtctgc gggacacggt
     2281 gctgctgctg cacggcctat cgcagaagga caagctcttc atgatgcact gcgtggaggt
     2341 cctgcatcag tttgaccagg tgatgccggg ggtcagcatg ctcatccgag ggcttcctga
     2401 tgtgacggac tgtgaagagg cagccctgga tgacctctgt gccgcggaaa ccgatgtgga
     2461 agaccccgag gtggagtgtg gctgaggccc tgagtgtcca gccacatggt ggcaccagca
     2521 ccactccttt ccttaccaca tcaactgatt aaagcagtga ccagcaggaa ctgcccagag
     2581 aactggctgg ccttgtttcc tgagtctgat ctgtttggcg gagtgggagg ggtggagcag
     2641 gacccggacc ctgagtggct gggatccttc ttcctgtccc tggctgttgc tgagcccgtc
     2701 cccatggtaa ctgatctgcc ttgaggaagg agccctgccc tgcctgtgga attgtcctga
     2761 gtcattgctt tgggctgggg ccatgggaag aaaccattgt gtggcaggga aggaggtggc
     2821 tcttggccca ggcctaaacc aggaaagcct gggaaactgg gacccacagg tgggcatgaa
     2881 agggccgcag caggggctcc cagcagtgtg taagaccggg agctggtctg gcaccactgc
     2941 cctggtcctt ccagctgcct gtcactggta tgatggcccc ggtgcattgt gccaccagca
     3001 ggccacagct gtggatcttg gaaggcctct ggggtccccc gggagcaggg gagtgggtgt
     3061 gggggggaac ggatggtggt gagagggaca gaccaggcag gctgacgagc agggcgggcc
     3121 tggctcacgt gggcctgtag gcgggcccac gccaagtttc acttcccgcc actgctgcca
     3181 gcgagagccg cgggagagtg tgcagccgag tcactactgc ctgcctgcct gcctgctacg
     3241 gtgagtgtgg cccccacaat gggatggcgc agggcaggag ggccatgggt tcccccaccc
     3301 cagactaagg gggcactagg ggaggggccg agtcatgtga agagggagac cctctcagac
     3361 agtcgaatgt gctggtccca ctaaggaaac cacctcaccc tctccaactt cctgcctgaa
     3421 aatgggccct ggagctcgca gacagggcag gattgtgcag ggaaggcctg agatgtgctt
     3481 ctgcccaccc cctaccccac tccctcccct tcggatctta acactgggca ctcacacacc
     3541 caccccatgc tcctctccag gctcagcagc aggtacgtac ccaaccatgg gctcgcaggc
     3601 cctgcccccg gggcccatgc agaccctcat ctttttcgac atggaggcca ctggcttgcc
     3661 cttctcccag cccaaggtca cggagctgtg cctgctggct gtccacagat gtgccctgga
     3721 gagccccccc acctctcagg ggccacctcc cacagttcct ccaccaccgc gtgtggtaga
     3781 caagctctcc ctgtgtgtgg ctccggggaa ggcctgcagc cctgcagcca gcgagatcac
     3841 aggtctgagc acagctgtgc tggcagcgca tgggcgtcaa tgttttgatg acaacctggc
     3901 caacctgctc ctagccttcc tgcggcgcca gccacagccc tggtgcctgg tggcacacaa
     3961 tggtgaccgc tacgacttcc ccctgctcca agcagagctg gctatgctgg gcctcaccag
     4021 tgctctggat ggtgccttct gtgtggatag catcactgcg ctgaaggccc tggagcgagc
     4081 aagcagcccc tcagaacacg gcccaaggaa gagctatagc ctaggcagca tctacactcg
     4141 cctgtatggg cagtcccctc cagactcgca cacggctgag ggtgatgtcc tggccctgct
     4201 cagcatctgt cagtggagac cacaggccct gctgcggtgg gtggatgctc acgccaggcc
     4261 tttcggcacc atcaggccca tgtatggggt cacagcctct gctaggacca agccaagacc
     4321 atctgctgtc acaaccactg cacacctggc cacaaccagg aacactagtc ccagccttgg
     4381 agagagcagg ggtaccaagg atcttcctcc agtgaaggac cctggagccc tatccaggga
     4441 ggggctgctg gccccactgg gtctgctggc catcctgacc ttggcagtag ccacactgta
     4501 tggactatcc ctggccacac ctggggagta ggccaagaag gaaaatctga cgaataaaga
     4561 cccccgctgc cccata
//
