LOCUS       NM_001002759            1430 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens SWI5 dependent homologous recombination repair protein
            1 (SFR1), transcript variant 1, mRNA.
ACCESSION   NM_001002759
VERSION     NM_001002759.2
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 1430)
  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   2  (bases 1 to 1430)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1430)
  AUTHORS   Feng,Y., Singleton,D., Guo,C., Gardner,A., Pakala,S., Kumar,R.,
            Jensen,E., Zhang,J. and Khan,S.
  TITLE     DNA homologous recombination factor SFR1 physically and
            functionally interacts with estrogen receptor alpha
  JOURNAL   PLoS One 8 (7), e68075 (2013)
   PUBMED   23874500
  REMARK    GeneRIF: SFR1 is a novel transcriptional modulator for ERalpha and
            a potential target in breast cancer therapy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1430)
  AUTHORS   Zhao,L., Bracken,M.B. and DeWan,A.T.
  TITLE     Genome-wide association study of pre-eclampsia detects novel
            maternal single nucleotide polymorphisms and copy-number variants
            in subsets of the Hyperglycemia and Adverse Pregnancy Outcome
            (HAPO) study cohort
  JOURNAL   Ann Hum Genet 77 (4), 277-287 (2013)
   PUBMED   23551011
REFERENCE   5  (bases 1 to 1430)
  AUTHORS   Qing,Y., Yamazoe,M., Hirota,K., Dejsuphong,D., Sakai,W.,
            Yamamoto,K.N., Bishop,D.K., Wu,X. and Takeda,S.
  TITLE     The epistatic relationship between BRCA2 and the other RAD51
            mediators in homologous recombination
  JOURNAL   PLoS Genet 7 (7), e1002148 (2011)
   PUBMED   21779174
REFERENCE   6  (bases 1 to 1430)
  AUTHORS   Yuan,J. and Chen,J.
  TITLE     The role of the human SWI5-MEI5 complex in homologous recombination
            repair
  JOURNAL   J Biol Chem 286 (11), 9888-9893 (2011)
   PUBMED   21252223
  REMARK    GeneRIF: that human SWI5-MEI5 has an evolutionarily conserved
            function in homologous recombination repair.
REFERENCE   7  (bases 1 to 1430)
  AUTHORS   Akamatsu,Y. and Jasin,M.
  TITLE     Role for the mammalian Swi5-Sfr1 complex in DNA strand break repair
            through homologous recombination
  JOURNAL   PLoS Genet 6 (10), e1001160 (2010)
   PUBMED   20976249
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1430)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1430)
  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
REFERENCE   10 (bases 1 to 1430)
  AUTHORS   Gubin,A.N., Njoroge,J.M., Bouffard,G.G. and Miller,J.L.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL357336.11.
            
            On Jun 26, 2020 this sequence version replaced NM_001002759.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.233097.1, BG428883.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369727.4/ ENSP00000358742.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AL357336.11        5640-5665
            27-148              AL357336.11        6434-6555
            149-559             AL357336.11        7183-7593
            560-1430            AL357336.11        8982-9852
FEATURES             Location/Qualifiers
     source          1..1430
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.1"
     gene            1..1430
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="SWI5 dependent homologous recombination repair
                     protein 1"
                     /db_xref="GeneID:119392"
                     /db_xref="HGNC:HGNC:29574"
                     /db_xref="MIM:616527"
     exon            1..26
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..751
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="isoform a is encoded by transcript variant 1;
                     swi5-dependent recombination DNA repair protein 1 homolog;
                     meiosis protein 5 homolog; SWI5-dependent recombination
                     repair protein 1; MEI5 recombination repair protein
                     homolog; SWI5-dependent recombination repair 1"
                     /codon_start=1
                     /product="swi5-dependent recombination DNA repair protein
                     1 homolog isoform a"
                     /protein_id="NP_001002759.1"
                     /db_xref="CCDS:CCDS31279.1"
                     /db_xref="GeneID:119392"
                     /db_xref="HGNC:HGNC:29574"
                     /db_xref="MIM:616527"
                     /translation="MAEGEKNQDFTFKMESPSDSAVVLPSTPQASANPSSPYTNSSRK
                     QPMSATLRERLRKTRFSFNSSYNVVKRLKVESEENDQTFSEKPASSTEENCLEFQESF
                     KHIDSEFEENTNLKNTLKNLNVCESQSLDSGSCSALQNEFVSEKLPKQRLNAEKAKLV
                     KQVQEKEDLLRRLKLVKMYRSKNDLSQLQLLIKKWRSCSQLLLYELQSAVSEENKKLS
                     LTQLIDHYGLDDKLLHYNRSEEEFIDV"
     exon            27..148
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /inference="alignment:Splign:2.1.0"
     exon            149..559
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /inference="alignment:Splign:2.1.0"
     exon            560..1430
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1407..1412
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="hexamer: ATTAAA"
     polyA_site      1430
                     /gene="SFR1"
                     /gene_synonym="bA373N18.1; C10orf78; MEI5; MEIR5"
                     /note="major polyA site"
ORIGIN      
        1 gctctcgctg ggaatggcgg agggagagaa aaaccaagat ttcactttca agatggaaag
       61 tccgtcagac tcagctgtgg ttttacctag cactcctcag gcctctgcga atccatcatc
      121 tccctataca aatagttccc gaaaacaacc tatgagtgca acacttagag aaagattaag
      181 gaaaacaaga ttttcattta attcctctta caatgtggtg aaacgtctta aagtagagag
      241 tgaagaaaat gatcagacct tttcagagaa accagcatct tccacagagg aaaactgttt
      301 ggaatttcaa gaaagtttta aacatataga cagtgaattt gaagaaaata caaatttgaa
      361 aaatactttg aagaatctca atgtctgtga atctcagtca cttgattctg gatcatgcag
      421 tgctctccaa aatgagtttg tgagtgagaa gcttcctaaa caaagattaa acgctgaaaa
      481 agccaaattg gtgaagcagg ttcaggagaa agaagacctt cttcggaggc taaaactagt
      541 caaaatgtat agatcaaaga atgatctgtc tcagttacag ttgttaataa agaagtggag
      601 aagctgtagc cagctcttgc tttatgagtt gcagtcagct gtgtctgaag agaacaagaa
      661 actaagcctt actcaattga tagaccacta tgggttagat gataaattac tacactataa
      721 cagaagtgaa gaagaattta tagatgttta attcctgatt tttgctccag aatatctttg
      781 agaatgacaa cttaattaaa agatacttag gcactttttt tttttttttg agactgagtt
      841 tcgctcttgt catcctggct ggagtgtgat ggtgcgatct tgactcactg caacctctgc
      901 ctctcgggtt ccagcaattc tcctgcctca gcctcccgag tagctgagat tacaggcgcc
      961 cgccaccatg cccggctaat ttttgcattt ttagtagaga ctgggtttca ccacgttggc
     1021 caggctggtc tcgaactcct gacctcaggt gatccaccgc ctaggcctcc caaaaccatt
     1081 agggctcaga ggaaggtatc ccaatgaata tcaattaagg gcactttaat atataaatta
     1141 taaactaagt tctaaaagga aaattagtat tttggataga tttgtcaaaa cgacatttaa
     1201 gtcatgttta aaaagtcatt tgggcagttc tggaaactag ttttaataca tttgtttttt
     1261 atgacaaaaa gttttatttt aaatgttaaa aattgtccaa tctggtgaat gtctaaccct
     1321 aaagtttaaa aatttctgcc tcctaagttt atgtaccttg tttccatcca tttaccacat
     1381 atttccatct gatagtctag caggtaatta aacttatatg tccaaaacca
//
