LOCUS       NM_001080394            3625 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens scaffold protein involved in DNA repair (SPIDR),
            transcript variant 1, mRNA.
ACCESSION   NM_001080394 XM_001127993
VERSION     NM_001080394.4
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 3625)
  AUTHORS   Heddar,A., Guichoux,N., Auger,N. and Misrahi,M.
  TITLE     A SPIDR homozygous nonsense pathogenic variant in isolated primary
            ovarian insufficiency with chromosomal instability
  JOURNAL   Clin Genet 101 (2), 242-246 (2022)
   PUBMED   34697795
  REMARK    GeneRIF: A SPIDR homozygous nonsense pathogenic variant in isolated
            primary ovarian insufficiency with chromosomal instability.
REFERENCE   2  (bases 1 to 3625)
  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 3625)
  AUTHORS   Martino,J., Brunette,G.J., Barroso-Gonzalez,J., Moiseeva,T.N.,
            Smith,C.M., Bakkenist,C.J., O'Sullivan,R.J. and Bernstein,K.A.
  TITLE     The human Shu complex functions with PDS5B and SPIDR to promote
            homologous recombination
  JOURNAL   Nucleic Acids Res 47 (19), 10151-10165 (2019)
   PUBMED   31665741
  REMARK    GeneRIF: our study uncovers a protein complex, which consists of
            SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides
            insight into Shu complex function and composition.
REFERENCE   4  (bases 1 to 3625)
  AUTHORS   Smirin-Yosef,P., Zuckerman-Levin,N., Tzur,S., Granot,Y., Cohen,L.,
            Sachsenweger,J., Borck,G., Lagovsky,I., Salmon-Divon,M.,
            Wiesmuller,L. and Basel-Vanagaite,L.
  TITLE     A Biallelic Mutation in the Homologous Recombination Repair Gene
            SPIDR Is Associated With Human Gonadal Dysgenesis
  JOURNAL   J Clin Endocrinol Metab 102 (2), 681-688 (2017)
   PUBMED   27967308
  REMARK    GeneRIF: A biallelic mutation in SPIDR may be associated with
            ovarian dysgenesis in cases of autosomal recessive inheritance.
            Erratum:[J Clin Endocrinol Metab. 2018 Jan 1;103(1):364. doi:
            10.1210/jc.2017-02413.. PMID: 29126114]
REFERENCE   5  (bases 1 to 3625)
  AUTHORS   Brueckner,L.M., Hess,E.M., Schwab,M. and Savelyeva,L.
  TITLE     Instability at the FRA8I common fragile site disrupts the genomic
            integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal
            cancer
  JOURNAL   Cancer Lett 336 (1), 85-95 (2013)
   PUBMED   23603433
  REMARK    GeneRIF: The FRA8I fragile site includes KIAA0146, CEBPD and PRKDC
            and may have a role in colorectal cancer
REFERENCE   6  (bases 1 to 3625)
  AUTHORS   Yuan,J. and Chen,J.
  TITLE     FIGNL1-containing protein complex is required for efficient
            homologous recombination repair
  JOURNAL   Proc Natl Acad Sci U S A 110 (26), 10640-10645 (2013)
   PUBMED   23754376
  REMARK    GeneRIF: KIAA0146 is also known as scaffolding protein involved in
            DNA repair (SPIDR), as a binding partner of FIGNL1 and established
            that KIAA0146/SPIDR acts with FIGNL1 in homologous recombination
            repair
REFERENCE   7  (bases 1 to 3625)
  AUTHORS   Wan,L., Han,J., Liu,T., Dong,S., Xie,F., Chen,H. and Huang,J.
  TITLE     Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome
            helicase with homologous recombination repair
  JOURNAL   Proc Natl Acad Sci U S A 110 (26), 10646-10651 (2013)
   PUBMED   23509288
  REMARK    GeneRIF: Consistent with its role as a scaffolding protein for the
            assembly of BLM and RAD51 foci, cells depleted of SPIDR show
            increased rate of sister chromatid exchange and defects in
            homologous recombination repair.
REFERENCE   8  (bases 1 to 3625)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   9  (bases 1 to 3625)
  AUTHORS   Tang,B.S., Chan,K.H., Cheng,V.C., Woo,P.C., Lau,S.K., Lam,C.C.,
            Chan,T.L., Wu,A.K., Hung,I.F., Leung,S.Y. and Yuen,K.Y.
  TITLE     Comparative host gene transcription by microarray analysis early
            after infection of the Huh7 cell line by severe acute respiratory
            syndrome coronavirus and human coronavirus 229E
  JOURNAL   J Virol 79 (10), 6180-6193 (2005)
   PUBMED   15858003
REFERENCE   10 (bases 1 to 3625)
  AUTHORS   Lee,Y.W., Eum,S.Y., Chen,K.C., Hennig,B. and Toborek,M.
  TITLE     Gene expression profile in interleukin-4-stimulated human vascular
            endothelial cells
  JOURNAL   Mol Med 10 (1-6), 19-27 (2004)
   PUBMED   15502879
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC233269.2, D63480.1, BM981420.1 and AC023991.9.
            
            On May 17, 2019 this sequence version replaced NM_001080394.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.227723.1,
                                           SRR1803611.35656.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297423.9/ ENSP00000297423.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC233269.2         2894-2905           c
            13-3230             D63480.1           1-3218
            3231-3320           BM981420.1         17-106              c
            3321-3625           AC023991.9         124284-124588
FEATURES             Location/Qualifiers
     source          1..3625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q11.21"
     gene            1..3625
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /note="scaffold protein involved in DNA repair"
                     /db_xref="GeneID:23514"
                     /db_xref="HGNC:HGNC:28971"
                     /db_xref="MIM:615384"
     exon            1..54
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..2769
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     repair-scaffolding protein; scaffolding protein involved
                     in DNA repair"
                     /codon_start=1
                     /product="DNA repair-scaffolding protein isoform 1"
                     /protein_id="NP_001073863.1"
                     /db_xref="CCDS:CCDS43737.1"
                     /db_xref="GeneID:23514"
                     /db_xref="HGNC:HGNC:28971"
                     /db_xref="MIM:615384"
                     /translation="MPRGSRARGSKRKRSWNTECPSFPGERPLQVRRAGLRTAGAAAS
                     LSEAWLRCGEGFQNTSGNPSLTAEEKTITEKHLELCPRPKQETTTSKSTSGLTDITWS
                     SSGSDLSDEDKTLSQLQRDELQFIDWEIDSDRAEASDCDEFEDDEGAVEISDCASCAS
                     NQSLTSDEKLSELPKPSSIEILEYSSDSEKEDDLENVLLIDSESPHKYHVQFASDARQ
                     IMERLIDPRTKSTETILHTPQKPTAKFPRTPENSAKKKLLRGGLAERLNGLQNRERSA
                     ISLWRHQCISYQKTLSGRKSGVLTVKILELHEECAMQVAMCEQLLGSPATSSSQSVAP
                     RPGAGLKVLFTKETAGYLRGRPQDTVRIFPPWQKLIIPSGSCPVILNTYFCEKVVAKE
                     DSEKTCEVYCPDIPLPRRSISLAQMFVIKGLTNNSPEIQVVCSGVATTGTAWTHGHKE
                     AKQRIPTSTPLRDSLLDVVESQGAASWPGAGVRVVVQRVYSLPSRDSTRGQQGASSGH
                     TDPAGTRACLLVQDACGMFGEVHLEFTMSKARQLEGKSCSLVGMKVLQKVTRGRTAGI
                     FSLIDTLWPPAIPLKTPGRDQPCEEIKTHLPPPALCYILTAHPNLGQIDIIDEDPIYK
                     LYQPPVTRCLRDILQMNDLGTRCSFYATVIYQKPQLKSLLLLEQREIWLLVTDVTLQT
                     KEERDPRLPKTLLVYVAPLCVLGSEVLEALAGAAPHSLFFKDALRDQGRIVCAERTVL
                     LLQKPLLSVVSGASSCELPGPVMLDSLDSATPVNSICSVQGTVVGVDESTAFSWPVCD
                     MCGNGRLEQRPEDRGAFSCGDCSRVVTSPVLKRHLQVFLDCRSRPQCRVKVKLLQRSI
                     SSLLRFAAGEDGSYEVKSVLGKEVGLLNCFVQSVTAHPTSCIGLEEIELLSAGGASAE
                     H"
     exon            55..210
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            211..277
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            278..382
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            383..546
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            547..797
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            798..898
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1118
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1314
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1565
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1706
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1707..1794
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1795..1938
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..1998
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..2209
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            2210..2362
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            2363..2456
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            2457..2571
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            2572..2625
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     exon            2626..3625
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3215..3220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /note="hexamer: AATAAA"
     polyA_site      3232
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /note="major polyA site"
     regulatory      3300..3305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
                     /note="hexamer: CATAAA"
     polyA_site      3320
                     /gene="SPIDR"
                     /gene_synonym="KIAA0146; ODG9"
ORIGIN      
        1 gctcaggcgg cgctcccgga gatgccccgc ggcagccgcg ctcggggctc taagagaaaa
       61 aggagttgga atacagaatg cccatccttt ccaggagaaa gaccactgca ggtcagaaga
      121 gcaggtctca ggacagcagg ggcagctgcc tctctctctg aagcatggct caggtgtgga
      181 gaagggtttc agaacacttc tgggaatccg tcattaacag ctgaagagaa gacgattaca
      241 gaaaagcacc ttgaattatg ccctagaccc aagcaagaaa ccaccacatc taaaagcacc
      301 agtgggctta cagacataac atggagctcc agtggaagtg atttgtcgga tgaagataag
      361 acactttctc agttacagag agatgaatta cagtttatcg actgggagat tgacagtgac
      421 agggcagagg ctagtgactg tgatgaattt gaagatgacg agggtgctgt ggaaatctca
      481 gactgtgctt cttgtgcaag taatcagtct ttgacaagtg atgagaagct gtcggagctt
      541 cccaagccaa gttctataga aattttagag tattcatcag atagtgaaaa agaagatgat
      601 ttggaaaatg tcctactcat tgattcagaa tcccctcaca aataccacgt gcagtttgca
      661 tcggatgcaa gacagattat ggagagactg atagatccaa ggacaaaatc aacagagacc
      721 attttgcata cacctcagaa acccacagct aagtttccca ggactccaga aaattcagca
      781 aagaagaagc ttttaagagg tggactagca gaaagactaa atggactgca gaatcgagag
      841 agatctgcta tttctttgtg gagacatcaa tgtatttctt accaaaagac actttcaggt
      901 agaaaatctg gtgtattaac tgtgaaaatt ttagagctgc atgaggaatg tgccatgcaa
      961 gttgccatgt gtgagcagtt attggggtca ccagccacca gctcctccca aagtgtggct
     1021 cccaggcctg gagctggcct gaaagttctc ttcaccaagg agactgcagg ctacctcagg
     1081 ggccgtcccc aggacactgt ccggatcttc cctccctggc aaaaactgat tattccaagt
     1141 ggaagttgcc ctgttattct gaatacttac ttttgtgaga aagttgttgc caaagaagat
     1201 tcagaaaaaa cttgtgaagt gtactgtccg gacatacccc ttccaagaag aagcatctct
     1261 ttggcccaga tgtttgtaat taagggtcta acaaataatt cacctgaaat ccaggttgtg
     1321 tgtagtggtg tagccactac agggacagcc tggacccatg ggcacaaaga agcaaaacag
     1381 cgcatcccaa ccagcactcc cctgagggat tctctcctgg atgtggtgga aagccaggga
     1441 gctgcctcgt ggccaggagc tggagtccga gtggtggtgc aaagagtgta ttctcttccc
     1501 agcagagaca gcaccagggg tcagcagggg gccagctcag gacacacaga cccagctgga
     1561 actcgagcct gccttctggt acaagatgcc tgtggaatgt tcggtgaagt gcacttggag
     1621 ttcaccatgt cgaaggcaag acagttggaa gggaagtctt gcagcctggt gggaatgaag
     1681 gttctacaga aagtcaccag aggaaggaca gcggggattt tcagtttgat tgacaccctg
     1741 tggcccccag cgatacctct gaaaacacct ggccgcgacc agccctgtga agagataaaa
     1801 actcatctgc ctcctccagc cttgtgttac atcctcacag ctcatccaaa tctgggacaa
     1861 attgatataa ttgacgaaga ccccatttat aagctttacc agcctccagt tacccgctgc
     1921 ttaagagaca ttctccagat gaatgatctt ggtacccgtt gcagtttcta tgccacggtg
     1981 atttaccaaa aaccacagct gaagagtctg ctgcttctgg agcaaaggga gatctggctg
     2041 ctagtgaccg atgtcactct gcaaacgaag gaggagagag accccaggct ccccaaaacc
     2101 ctgctggtct atgtggcccc cttgtgtgtg ctgggctctg aagtcctgga ggcactcgct
     2161 ggggctgccc ctcacagcct cttcttcaag gacgctctcc gtgaccaggg tcggattgtt
     2221 tgtgctgaac gaactgtcct cttgcttcag aagccccttt tgagtgtggt ctctggtgca
     2281 agttcctgtg agctgcctgg cccggtgatg ctcgacagcc tggactctgc aacacctgtc
     2341 aactccatct gcagtgttca aggcactgtg gttggcgtgg acgagagcac tgctttctca
     2401 tggcctgtgt gtgacatgtg tggcaacggg agattggaac agaggccgga agacagaggc
     2461 gccttttcct gtggggactg ctcccgggtg gtcacatctc ctgttctcaa gaggcacctg
     2521 caggtcttcc tggactgccg ctcaagaccg cagtgcagag tgaaggtcaa gctgttgcag
     2581 cgcagcattt cctccctgct gaggtttgcc gccggtgaag atgggagcta cgaagtgaag
     2641 agtgtcctcg gaaaggaagt ggggttgtta aattgttttg tccagtccgt aaccgcccac
     2701 ccgaccagct gcattggatt ggaggaaatc gagcttctga gtgcaggagg ggcctctgca
     2761 gaacactagc ggttgccgca ggatctgtga actttgcaat gtggctgcaa gggtggtggt
     2821 ggtggtggtg atttggggta gttatttgtt aactatggac acagtgaacg tagtttacga
     2881 tcttgaaatg aaacttagat ttttctgggg aaatgttcag atacagtttt gtgaactgta
     2941 aatcaaaata cctttttcta cagtttatct tttattttct gcaaatttag gaacatattt
     3001 actcgttttc acattgaatc ttaagtttaa gctcttcatt tggtatttag gcaatatatg
     3061 agaaaaaaat tttttttgtt catttgtaat tttaacaagt tgaacatttt accatgattg
     3121 aacatgtttt tattacagta tttaacattc ccccaaagaa taccctgcaa agtgtaaacc
     3181 tttgtcccat actgtgatat tactgttctg ctacaataaa tgtcaaacct aagcactttg
     3241 cagttcacta cttttgggaa aatgttctag ggaactgtat cacaggtgaa actgttaccc
     3301 ataaagtgta gctctctgaa ctggtgtgat cgtgtctctg ctgaatggtg gtggggatag
     3361 ctggctccac cacacacacc tgttttaatt aggctgggta atgtgcacgg agagcaaaga
     3421 tcacagacta aggagcagtc agtcggatat ttgctttgct ggcaaagatt taaaccaaga
     3481 attaattatc tttggacact ataaagattt tgttcccttc cttatagcaa tataatcatg
     3541 acaggccatg gttaactaca tcagatacac gtagcagccg tgaccaagac atggtgccct
     3601 aataccaagt gttcttgggt taaag
//
