LOCUS       NM_001330112            3601 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens shieldin complex subunit 2 (SHLD2), transcript variant
            1, mRNA.
ACCESSION   NM_001330112 XM_017016351
VERSION     NM_001330112.2
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 3601)
  AUTHORS   Zhao,F., Kim,W., Gao,H., Liu,C., Zhang,Y., Chen,Y., Deng,M.,
            Zhou,Q., Huang,J., Hu,Q., Chen,S.H., Nowsheen,S., Kloeber,J.A.,
            Qin,B., Yin,P., Tu,X., Guo,G., Qin,S., Zhang,C., Gao,M., Luo,K.,
            Liu,Y., Lou,Z. and Yuan,J.
  TITLE     ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating
            end resection
  JOURNAL   Nat Cell Biol 23 (8), 894-904 (2021)
   PUBMED   34354233
REFERENCE   2  (bases 1 to 3601)
  AUTHORS   Findlay,S., Heath,J., Luo,V.M., Malina,A., Morin,T., Coulombe,Y.,
            Djerir,B., Li,Z., Samiei,A., Simo-Cheyou,E., Karam,M., Bagci,H.,
            Rahat,D., Grapton,D., Lavoie,E.G., Dove,C., Khaled,H., Kuasne,H.,
            Mann,K.K., Klein,K.O., Greenwood,C.M., Tabach,Y., Park,M.,
            Cote,J.F., Masson,J.Y., Marechal,A. and Orthwein,A.
  TITLE     SHLD2/FAM35A co-operates with REV7 to coordinate DNA double-strand
            break repair pathway choice
  JOURNAL   EMBO J 37 (18) (2018)
   PUBMED   30154076
  REMARK    GeneRIF: these results establish SHLD2 as a novel effector of REV7
            in controlling the decision-making process during DSB repair.
REFERENCE   3  (bases 1 to 3601)
  AUTHORS   Ghezraoui,H., Oliveira,C., Becker,J.R., Bilham,K., Moralli,D.,
            Anzilotti,C., Fischer,R., Deobagkar-Lele,M., Sanchiz-Calvo,M.,
            Fueyo-Marcos,E., Bonham,S., Kessler,B.M., Rottenberg,S.,
            Cornall,R.J., Green,C.M. and Chapman,J.R.
  TITLE     53BP1 cooperation with the REV7-shieldin complex underpins DNA
            structure-specific NHEJ
  JOURNAL   Nature 560 (7716), 122-127 (2018)
   PUBMED   30046110
REFERENCE   4  (bases 1 to 3601)
  AUTHORS   Noordermeer,S.M., Adam,S., Setiaputra,D., Barazas,M., Pettitt,S.J.,
            Ling,A.K., Olivieri,M., Alvarez-Quilon,A., Moatti,N.,
            Zimmermann,M., Annunziato,S., Krastev,D.B., Song,F., Brandsma,I.,
            Frankum,J., Brough,R., Sherker,A., Landry,S., Szilard,R.K.,
            Munro,M.M., McEwan,A., Goullet de Rugy,T., Lin,Z.Y., Hart,T.,
            Moffat,J., Gingras,A.C., Martin,A., van Attikum,H., Jonkers,J.,
            Lord,C.J., Rottenberg,S. and Durocher,D.
  TITLE     The shieldin complex mediates 53BP1-dependent DNA repair
  JOURNAL   Nature 560 (7716), 117-121 (2018)
   PUBMED   30022168
REFERENCE   5  (bases 1 to 3601)
  AUTHORS   Mirman,Z., Lottersberger,F., Takai,H., Kibe,T., Gong,Y., Takai,K.,
            Bianchi,A., Zimmermann,M., Durocher,D. and de Lange,T.
  TITLE     53BP1-RIF1-shieldin counteracts DSB resection through CST- and
            Polalpha-dependent fill-in
  JOURNAL   Nature 560 (7716), 112-116 (2018)
   PUBMED   30022158
REFERENCE   6  (bases 1 to 3601)
  AUTHORS   Yan,F., Sun,P., Zhao,H., Zhao,C., Zhang,N. and Dai,Y.
  TITLE     Genetic association and functional analysis of rs7903456 in FAM35A
            gene and hyperuricemia: a population based study
  JOURNAL   Sci Rep 8 (1), 9579 (2018)
   PUBMED   29942023
  REMARK    GeneRIF: Genetic association and functional analysis of rs7903456
            in FAM35A gene and hyperuricemia
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3601)
  AUTHORS   Tomida,J., Takata,K.I., Bhetawal,S., Person,M.D., Chao,H.P.,
            Tang,D.G. and Wood,R.D.
  TITLE     FAM35A associates with REV7 and modulates DNA damage responses of
            normal and BRCA1-defective cells
  JOURNAL   EMBO J 37 (12) (2018)
   PUBMED   29789392
  REMARK    GeneRIF: found FAM35A, a previously unstudied protein with an
            unstructured N-terminal region and a C-terminal region harboring
            three OB-fold domains similar to single-stranded DNA-binding
            protein RPA, as novel interactor of REV7/RIF1/53BP1.
REFERENCE   8  (bases 1 to 3601)
  AUTHORS   Gupta,R., Somyajit,K., Narita,T., Maskey,E., Stanlie,A., Kremer,M.,
            Typas,D., Lammers,M., Mailand,N., Nussenzweig,A., Lukas,J. and
            Choudhary,C.
  TITLE     DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of
            NHEJ and PARP Inhibitor Sensitivity
  JOURNAL   Cell 173 (4), 972-988 (2018)
   PUBMED   29656893
REFERENCE   9  (bases 1 to 3601)
  AUTHORS   Nakayama,A., Nakaoka,H., Yamamoto,K., Sakiyama,M., Shaukat,A.,
            Toyoda,Y., Okada,Y., Kamatani,Y., Nakamura,T., Takada,T., Inoue,K.,
            Yasujima,T., Yuasa,H., Shirahama,Y., Nakashima,H., Shimizu,S.,
            Higashino,T., Kawamura,Y., Ogata,H., Kawaguchi,M., Ohkawa,Y.,
            Danjoh,I., Tokumasu,A., Ooyama,K., Ito,T., Kondo,T., Wakai,K.,
            Stiburkova,B., Pavelka,K., Stamp,L.K., Dalbeth,N., Sakurai,Y.,
            Suzuki,H., Hosoyamada,M., Fujimori,S., Yokoo,T., Hosoya,T.,
            Inoue,I., Takahashi,A., Kubo,M., Ooyama,H., Shimizu,T., Ichida,K.,
            Shinomiya,N., Merriman,T.R. and Matsuo,H.
  CONSRTM   Eurogout Consortium; Eurogout Consortium
  TITLE     GWAS of clinically defined gout and subtypes identifies multiple
            susceptibility loci that include urate transporter genes
  JOURNAL   Ann Rheum Dis 76 (5), 869-877 (2017)
   PUBMED   27899376
  REMARK    GeneRIF: the FAM35A locus showed an association with all gout by
            meta-analysis among the Japanese, Caucasian and NZ Polynesian
            sample sets at a genome-wide level of significance.
REFERENCE   10 (bases 1 to 3601)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136982.11 and AL645992.9.
            
            On Jun 2, 2019 this sequence version replaced NM_001330112.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1660805.178406.1,
                                           SRR1803612.83701.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298786.5/ ENSP00000298786.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AL136982.11        129339-129381
            44-99               AL136982.11        131067-131122
            100-1629            AL645992.9         4524-6053
            1630-1737           AL645992.9         11222-11329
            1738-1932           AL645992.9         23652-23846
            1933-2067           AL645992.9         24014-24148
            2068-2274           AL645992.9         29063-29269
            2275-2503           AL645992.9         33249-33477
            2504-2619           AL645992.9         40259-40374
            2620-3601           AL645992.9         43658-44639
FEATURES             Location/Qualifiers
     source          1..3601
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.2"
     gene            1..3601
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /note="shieldin complex subunit 2"
                     /db_xref="GeneID:54537"
                     /db_xref="HGNC:HGNC:28773"
                     /db_xref="MIM:618029"
     exon            1..43
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            44..99
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            100..1629
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..2819
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM35A; family with sequence similarity 35 member
                     A; RINN1-REV7-interacting novel NHEJ regulator 2; shield
                     complex subunit 2"
                     /codon_start=1
                     /product="shieldin complex subunit 2 isoform 1"
                     /protein_id="NP_001317041.1"
                     /db_xref="CCDS:CCDS81484.1"
                     /db_xref="GeneID:54537"
                     /db_xref="HGNC:HGNC:28773"
                     /db_xref="MIM:618029"
                     /translation="MSGGSQVHIFWGAPIAPLKITVSEDTASLMSVADPWKKIQLLYS
                     QHSLYLKDEKQHKNLENYKVPESIGSPDLSGHFLANCMNRHVHVKDDFVRSVSETQNI
                     ESQKIHSSRLSDITSSNMQICGFKSTVPHFTEEEKYQKLLSENKIRDEQPKHQPDICG
                     KNFNTNLFQLGHKCAAVLDLVCSTEKINIGPEVVQRECVPTEYHEIQNQCLGLFSSNA
                     VDKSRSEAAVRKVSDLKISTDTEFLSIITSSQVAFLAQKKDKRRSPVNKGNVNMETEP
                     KASYGEIRIPEENSIQLDGFTEAYESGQNQAYSLELFSPVCPKTENSRIHINSDKGLE
                     EHTGSQELFSSEDELPPNEIRIELCSSGILCSQLNTFHKSAIKRSCTSEDKVGQSEAL
                     SRVLQVAKKMKLISNGGDSAVEMDRRNVSEFKSIKKTSLIKNCDSKSQKYNCLVMVLS
                     PCHVKEINIKFGPNSGSKVPLATVTVIDQSETKKKVFLWRTAAFWAFTVFLGDIILLT
                     DVVIHEDQWIGETVLQSTFSSQLLNLGSYSSIQPEEYSSVVSEVVLQDLLAYVSSKHS
                     YLRDLPPRQPQRVNSIDFVELEHLQPDVLVHAVLRVVDFTILTEAVYSYRGQKQKKVM
                     LTVEQAQDQHYALVLWGPGAAWYPQLQRKKGYIWEFKYLFVQCNYTLENLELHTTPWS
                     SCECLFDDDIRAITFKAKFQKSAPSFVKISDLATHLEDKCSGVVLIKAQISELAFPIT
                     ASQKIALNAHSSLKSIFSSLPNIVYTGCAKCGLELETDENRIYKQCFSCLPFTMKKIY
                     YRPALMTAIDGRHDVCIRVESKLIEKILLNISADCLNRVIVPSSEITYGMVVADLFHS
                     LLAVSAEPCVLKIQSLFVLDENSYPLQQDFSLLDFYPDIVKHGANARL"
     exon            1630..1737
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1932
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1933..2067
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2068..2274
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2275..2503
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2504..2619
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2620..3601
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3580..3585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /note="hexamer: AATAAA"
     polyA_site      3601
                     /gene="SHLD2"
                     /gene_synonym="bA163M19.1; FAM35A; FAM35A1; RINN2"
                     /note="major polyA site"
ORIGIN      
        1 ggatttgccc ggaggccgca cccgcctccg gcggggctct cagtgaaaaa tgtactctga
       61 cctgaatcct gaattttcct tgatggtcaa aagattaaga aatcatgagt ggaggatctc
      121 aagtccacat tttttggggt gctccaattg ctccactgaa aatcacagta tcagaagaca
      181 cagcttcttt aatgtctgtt gctgacccct ggaaaaaaat tcagctttta tacagtcaac
      241 attctttata tctgaaggat gaaaaacagc acaaaaatct tgaaaactat aaagtcccag
      301 aatctattgg ttctccagat cttagtggtc atttcttagc aaactgtatg aatagacatg
      361 ttcatgtgaa agatgacttt gtacgttctg tttctgaaac acagaatata gaatcccaga
      421 agattcactc ctctagactg agtgatataa ctagctctaa tatgcaaata tgtggattta
      481 aaagcacagt tccgcatttc accgaagaag aaaagtatca aaagcttctc agtgaaaata
      541 aaattagaga tgaacagcct aaacatcagc cagatatatg tggtaagaac tttaacacaa
      601 atttgtttca gttgggccat aaatgtgcag ctgtgttgga tttggtttgt agtactgaaa
      661 aaattaatat agggcctgaa gtggtacaaa gagagtgtgt gccaacagaa tatcatgaaa
      721 tacaaaacca gtgtttggga ttattttcct cgaacgcagt agataagtca aggtctgaag
      781 cagcagttag gaaggtctca gaccttaaaa tatcaactga tacagaattt ctcagtataa
      841 ttacctccag ccaggttgct tttttagctc aaaagaaaga taaaaggcgg agtcctgtaa
      901 ataaagggaa tgtaaacatg gagactgaac caaaggcaag ttacggggag ataagaatac
      961 ctgaagagaa ttcgattcag cttgatggtt ttacagaagc atatgaaagt ggacaaaacc
     1021 aagcatattc ccttgaactt tttagtcctg tttgtcctaa aacagaaaat agccgcattc
     1081 acataaactc tgataaaggt cttgaagaac atacaggatc tcaagaactt ttcagttctg
     1141 aagatgaact gccaccaaat gagatacgta ttgagttgtg tagctcagga atactgtgtt
     1201 cccaactaaa taccttccac aaaagtgcta ttaaaagaag ctgtacctct gaagataaag
     1261 tgggccagtc tgaagctcta tctagagtcc ttcaagtagc taagaaaatg aagttgattt
     1321 ctaatggagg agattctgct gtagaaatgg atcggagaaa tgtgtctgaa tttaagagta
     1381 ttaaaaaaac atcattaata aaaaactgtg attctaaaag ccagaagtat aattgtttag
     1441 tcatggtgct atctccatgc catgtgaagg aaataaacat aaaattcgga ccaaattctg
     1501 gctctaaagt gcctttagca acagttacag taattgatca atcagaaact aagaagaagg
     1561 tttttctgtg gaggactgca gcattttggg catttacagt gtttcttgga gatataattt
     1621 tactcacaga tgttgttatt catgaggacc aatggattgg cgagacagta ctacaatcaa
     1681 catttagcag tcagttatta aatcttggga gttattcatc tattcagcct gaagaatatt
     1741 ccagtgtagt tagtgaagtt gtacttcaag acttactggc atatgtgtcc tcaaaacatt
     1801 cctacctcag agatcttcct ccgaggcagc ctcagagggt gaacagtata gactttgtag
     1861 aattggagca ccttcaacct gatgtattag tccacgcagt actaagagtt gttgatttca
     1921 ctatactgac agaggcagta tacagttata gaggacagaa gcagaaaaaa gttatgttaa
     1981 cagtggaaca ggcccaagat caacattatg cgcttgtatt atggggtcct ggagcagcct
     2041 ggtaccctca acttcaaagg aaaaaaggtt atatttggga atttaaatat ctttttgttc
     2101 agtgcaatta cacactagaa aacctagaat tgcatacaac gccttggtca tcctgtgagt
     2161 gcttgtttga tgatgatata agggcaatta catttaaagc aaaatttcaa aaaagtgcac
     2221 cctcctttgt gaagatatca gacttagcaa cccacctaga ggataagtgt tcaggagtgg
     2281 ttctgattaa agcccagatt tcagagctgg catttcctat tacagcatct cagaagatag
     2341 cgctaaatgc tcacagttct ctgaagagta ttttttcttc tcttcccaac atcgtatata
     2401 ctggttgtgc aaaatgtgga ttggaactag aaacagatga gaacaggatc tacaaacaat
     2461 gttttagctg cttgccattt actatgaaga aaatatatta taggccagcg ttaatgactg
     2521 ccattgatgg aagacatgat gtttgtatcc gtgtagaatc aaagctgata gagaagattc
     2581 ttctcaacat ttctgcagac tgcctcaaca gagtgatagt tccttcctca gagatcacct
     2641 atgggatggt cgtggcagac ctgttccact ccttgttggc agtcagcgca gaaccttgtg
     2701 tattaaagat tcagagcctt tttgtgttag atgaaaacag ctatccatta caacaagatt
     2761 tctccctcct ggatttttat cctgacattg taaagcatgg agccaatgcc cgtctctgag
     2821 gccagaggaa gaaattgcag gcatttcaag gaagaagtac tgaaatgatt tgtcttttga
     2881 aataaatgaa tgacagggct tttgctttgg attttttatg aaatatattt tacaaagaga
     2941 attgcactag atatataaat taaaactttt ttctaagaaa atcctgtgag gtttaaaaag
     3001 attgtttttg tcttttggtt tcttactttc tcctggagaa atgatctacc agtcaaggca
     3061 atatgtagca gatccctggg aattaaaggt ttgcccattt gttcactgta tttagtccct
     3121 gctacattcc aggcattgta ctaagtatgg ggaaccacag agaagacatt ccctcagaaa
     3181 ctgctgcagt gctttcgctt atccctacct aaaaaaccgt caatgtgaaa tcatttcctt
     3241 gattataact ataatgataa tggattagtt tatataaacc tatgtttaga caagttcaag
     3301 acaagcgtgt ctttctataa aaagtattga aaatgaagga aatgagatca tgtttcaatt
     3361 tattaaagca gggaagagcg ttctgtgctt agttcgtgtc taggatttga gtgccttact
     3421 gaatgcattt accagcaaac atgtagcaat ctgttctctc attgtgattg tggaagaagc
     3481 tcatgtaaaa tgatagtcat taatgaggaa gtatggcgtg gtacttattc tgtaagttca
     3541 gagtatgctg agtgttaata gattatcata ttgcctgaaa ataaattcat gatgacatga
     3601 a
//
