LOCUS       NM_058216               2562 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens RAD51 paralog C (RAD51C), transcript variant 1, mRNA.
ACCESSION   NM_058216
VERSION     NM_058216.3
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 2562)
  AUTHORS   Rein,H.L. and Bernstein,K.A.
  TITLE     Variants in the first methionine of RAD51C are homologous
            recombination proficient due to an alternative start site
  JOURNAL   DNA Repair (Amst) 135, 103644 (2024)
   PUBMED   38330859
  REMARK    GeneRIF: Variants in the first methionine of RAD51C are homologous
            recombination proficient due to an alternative start site.
REFERENCE   2  (bases 1 to 2562)
  AUTHORS   Longo,M.A., Roy,S., Chen,Y., Tomaszowski,K.H., Arvai,A.S.,
            Pepper,J.T., Boisvert,R.A., Kunnimalaiyaan,S., Keshvani,C.,
            Schild,D., Bacolla,A., Williams,G.J., Tainer,J.A. and Schlacher,K.
  TITLE     RAD51C-XRCC3 structure and cancer patient mutations define DNA
            replication roles
  JOURNAL   Nat Commun 14 (1), 4445 (2023)
   PUBMED   37488098
  REMARK    GeneRIF: RAD51C-XRCC3 structure and cancer patient mutations define
            DNA replication roles.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2562)
  AUTHORS   Vaz,F., Hanenberg,H., Schuster,B., Barker,K., Wiek,C., Erven,V.,
            Neveling,K., Endt,D., Kesterton,I., Autore,F., Fraternali,F.,
            Freund,M., Hartmann,L., Grimwade,D., Roberts,R.G., Schaal,H.,
            Mohammed,S., Rahman,N., Schindler,D. and Mathew,C.G.
  TITLE     Mutation of the RAD51C gene in a Fanconi anemia-like disorder
  JOURNAL   Nat Genet 42 (5), 406-409 (2010)
   PUBMED   20400963
  REMARK    GeneRIF: biallelic germline mutations in a RAD51 paralog are
            associated with an FA-like syndrome [case report]
REFERENCE   4  (bases 1 to 2562)
  AUTHORS   Liu,Y., Masson,J.Y., Shah,R., O'Regan,P. and West,S.C.
  TITLE     RAD51C is required for Holliday junction processing in mammalian
            cells
  JOURNAL   Science 303 (5655), 243-246 (2004)
   PUBMED   14716019
  REMARK    GeneRIF: concluded that the RAD51 paralogs are involved in Holliday
            junction processing in human cells
REFERENCE   5  (bases 1 to 2562)
  AUTHORS   Kurumizaka,H., Ikawa,S., Nakada,M., Eda,K., Kagawa,W., Takata,M.,
            Takeda,S., Yokoyama,S. and Shibata,T.
  TITLE     Homologous-pairing activity of the human DNA-repair proteins
            Xrcc3.Rad51C
  JOURNAL   Proc Natl Acad Sci U S A 98 (10), 5538-5543 (2001)
   PUBMED   11331762
REFERENCE   6  (bases 1 to 2562)
  AUTHORS   Wu,G.J., Sinclair,C.S., Paape,J., Ingle,J.N., Roche,P.C.,
            James,C.D. and Couch,F.J.
  TITLE     17q23 amplifications in breast cancer involve the PAT1, RAD51C,
            PS6K, and SIGma1B genes
  JOURNAL   Cancer Res 60 (19), 5371-5375 (2000)
   PUBMED   11034073
REFERENCE   7  (bases 1 to 2562)
  AUTHORS   Barlund,M., Monni,O., Kononen,J., Cornelison,R., Torhorst,J.,
            Sauter,G., Kallioniemi,O.L.L.I.-P. and Kallioniemi,A.
  TITLE     Multiple genes at 17q23 undergo amplification and overexpression in
            breast cancer
  JOURNAL   Cancer Res 60 (19), 5340-5344 (2000)
   PUBMED   11034067
REFERENCE   8  (bases 1 to 2562)
  AUTHORS   Dosanjh,M.K., Collins,D.W., Fan,W., Lennon,G.G., Albala,J.S.,
            Shen,Z. and Schild,D.
  TITLE     Isolation and characterization of RAD51C, a new human member of the
            RAD51 family of related genes
  JOURNAL   Nucleic Acids Res 26 (5), 1179-1184 (1998)
   PUBMED   9469824
REFERENCE   9  (bases 1 to 2562)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (bases 1 to 2562)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF029669.1, CB243543.1 and
            AC025521.21.
            
            On Nov 22, 2018 this sequence version replaced NM_058216.2.
            
            Summary: This gene is a member of the RAD51 family. RAD51 family
            members are highly similar to bacterial RecA and Saccharomyces
            cerevisiae Rad51 and are known to be involved in the homologous
            recombination and repair of DNA. This protein can interact with
            other RAD51 paralogs and is reported to be important for Holliday
            junction resolution. Mutations in this gene are associated with
            Fanconi anemia-like syndrome. This gene is one of four localized to
            a region of chromosome 17q23 where amplification occurs frequently
            in breast tumors. Overexpression of the four genes during
            amplification has been observed and suggests a possible role in
            tumor progression. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) is the longest transcript and
            encodes the longer 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 :: AF029669.1, SRR1803617.474.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337432.9/ ENSP00000336701.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1282              AF029669.1         1-1282
            1283-1293           CB243543.1         16-26               c
            1294-2562           AC025521.21        101144-102412       c
FEATURES             Location/Qualifiers
     source          1..2562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..2562
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /note="RAD51 paralog C"
                     /db_xref="GeneID:5889"
                     /db_xref="HGNC:HGNC:9820"
                     /db_xref="MIM:602774"
     exon            1..187
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1173
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /note="isoform 1 is encoded by transcript variant 1; yeast
                     RAD51 homolog 3; DNA repair protein RAD51 homolog 3;
                     RAD51-like protein 2"
                     /codon_start=1
                     /product="DNA repair protein RAD51 homolog 3 isoform 1"
                     /protein_id="NP_478123.1"
                     /db_xref="CCDS:CCDS11611.1"
                     /db_xref="GeneID:5889"
                     /db_xref="HGNC:HGNC:9820"
                     /db_xref="MIM:602774"
                     /translation="MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPS
                     ELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIIT
                     FCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDT
                     EGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTE
                     LLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNH
                     RLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKE
                     CTVLFQIKPQGFRDTVVTSACSLQTEGSLSTRKRSRDPEEEL"
     exon            188..446
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            447..613
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            614..747
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            748..879
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            880..946
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1007
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1068
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..2562
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1257..1262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /note="hexamer: AATAAA"
     polyA_site      1282
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /note="major polyA site"
     regulatory      2539..2544
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
                     /note="hexamer: AATAAA"
     polyA_site      2562
                     /gene="RAD51C"
                     /gene_synonym="BROVCA3; FANCO; R51H3; RAD51L2"
ORIGIN      
        1 gtgcggagtt tggctgctcc ggggttagca ggtgagcctg cgatgcgcgg gaagacgttc
       61 cgctttgaaa tgcagcggga tttggtgagt ttcccgctgt ctccagcggt gcgggtgaag
      121 ctggtgtctg cggggttcca gactgctgag gaactcctag aggtgaaacc ctccgagctt
      181 agcaaagaag ttgggatatc taaagcagaa gccttagaaa ctctgcaaat tatcagaaga
      241 gaatgtctca caaataaacc aagatatgct ggtacatctg agtcacacaa gaagtgtaca
      301 gcactggaac ttcttgagca ggagcatacc cagggcttca taatcacctt ctgttcagca
      361 ctagatgata ttcttggggg tggagtgccc ttaatgaaaa caacagaaat ttgtggtgca
      421 ccaggtgttg gaaaaacaca attatgtatg cagttggcag tagatgtgca gataccagaa
      481 tgttttggag gagtggcagg tgaagcagtt tttattgata cagagggaag ttttatggtt
      541 gatagagtgg tagaccttgc tactgcctgc attcagcacc ttcagcttat agcagaaaaa
      601 cacaagggag aggaacaccg aaaagctttg gaggatttca ctcttgataa tattctttct
      661 catatttatt attttcgctg tcgtgactac acagagttac tggcacaagt ttatcttctt
      721 ccagatttcc tttcagaaca ctcaaaggtt cgactagtga tagtggatgg tattgctttt
      781 ccatttcgtc atgacctaga tgacctgtct cttcgtactc ggttattaaa tggcctagcc
      841 cagcaaatga tcagccttgc aaataatcac agattagctg taattttaac caatcagatg
      901 acaacaaaga ttgatagaaa tcaggccttg cttgttcctg cattagggga aagttgggga
      961 catgctgcta caatacggct aatctttcat tgggaccgaa agcaaaggtt ggcaacattg
     1021 tacaagtcac ccagccagaa ggaatgcaca gtactgtttc aaatcaaacc tcagggattt
     1081 agagatactg ttgttacttc tgcatgttca ttgcaaacag aaggttcctt gagcacccgg
     1141 aaacggtcac gagacccaga ggaagaatta taacccagaa acaaatctca aagtgtacaa
     1201 atttattgat gttgtgaaat caatgtgtac aagtggactt gttaccttaa agtataaata
     1261 aacacactat ggcatgaatg aatccagatc atatgaagtg aatgggaaaa atacctaaat
     1321 atgattctgt gaaagttttt ctaaagcagt attctgcaat tatattttac cctgttttca
     1381 ttttcagtaa cattcagtag agatgattat tatatttcac aaatgtggaa agctgatctc
     1441 atgtggccag tctgaattta ccattcatac tgttttcacc cctttctttc ccagttgcct
     1501 ataaaatctt aggaagaaac atatcatatt cttattgtgt tttttttttt tttttttttt
     1561 ttggagatgg attctcgctc tgtagtccag gctggagtgc aatggcgcaa tctctgctca
     1621 ctgcaacctc cgcctcccag gttcaagcga ttcatctgcc tcagcctccc gagtagctgg
     1681 ggttacaggc acctgccatc gtgcctggct aattttttgt atttttgtag agacagagtt
     1741 ttaccatgtt ggccaagctg gtcttgaact cctgacctca ggtgatctgc ctgcccctgc
     1801 ctcccaaagt gctgggatta cagtcgtgag ccactgtgcc cagccatgtt ctttttaaat
     1861 gtaaatttga taattcttta aaattacccg cttttataat tataaaagag aagccagcac
     1921 catgagtcag catattattc tgttcagttt tataggtaag atacaaattt taggtgacca
     1981 aactgatttt agtgacctca atcctaaaat ctaagccatt tgtttagctt ttaatgacat
     2041 tttataatgt taaagggagg actttggagc tgttatctca tctagagatt gtttggaaca
     2101 tatgtcttcc agaataggtt gataagctca caatcattta ttgctacgtt tttgtttttg
     2161 ttttgagaca aggtctcact ccgtcaccca ggctggagtg cagtggcatg atcatagctc
     2221 actgcagcct cgacctcccg ggctcaagca atcctctcac ttcagcctcc tgagtagctg
     2281 ggactacagg gaggcactac catgccctgc taatttttgg atttttttgt agagacaagg
     2341 tctcactatg ttgcccaggc tggtctcaaa ctcctggtct caagcgatcc tcttgccttg
     2401 tcttcccaaa gtgctgggat tacagatgtg agccaccaca cctggcctca tttctatatt
     2461 ttgaaacacg gtatgatcca ttctagaatt ctagttgtta tgttgacatt tttctttgaa
     2521 taatcttaac tttgcttaaa taaattaaag atttcaattc tc
//
