LOCUS       NM_001382741            3699 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens fibrosin like 1 (FBRSL1), transcript variant 5, mRNA.
ACCESSION   NM_001382741 XM_005266181
VERSION     NM_001382741.1
KEYWORDS    RefSeq.
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 3699)
  AUTHORS   Berger,H., Gerstner,S., Horstmann,M.F., Pauli,S. and Borchers,A.
  TITLE     Fbrsl1 is required for heart development in Xenopus laevis and de
            novo variants in FBRSL1 can cause human heart defects
  JOURNAL   Dis Model Mech 17 (6) (2024)
   PUBMED   38501224
  REMARK    GeneRIF: Fbrsl1 is required for heart development in Xenopus laevis
            and de novo variants in FBRSL1 can cause human heart defects.
REFERENCE   2  (bases 1 to 3699)
  AUTHORS   Zheng,R., Qiao,S., Chen,Y., Jin,C., Fang,Y., Lin,Z., Xue,N.,
            Yan,Y., Gu,L., Gao,T., Tian,J., Yan,Y., Yin,X., Pu,J. and Zhang,B.
  TITLE     Association analysis and polygenic risk score evaluation of 38
            GWAS-identified Loci in a Chinese population with Parkinson's
            disease
  JOURNAL   Neurosci Lett 762, 136150 (2021)
   PUBMED   34352340
  REMARK    GeneRIF: Association analysis and polygenic risk score evaluation
            of 38 GWAS-identified Loci in a Chinese population with Parkinson's
            disease.
REFERENCE   3  (bases 1 to 3699)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079031.39.
            
            On May 20, 2020 this sequence version replaced XM_005266181.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.1164501.1,
                                           SRR18074967.1399253.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-711               AC079031.39        61210-61920
            712-909             AC079031.39        79212-79409
            910-3699            AC079031.39        80225-83014
FEATURES             Location/Qualifiers
     source          1..3699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..3699
                     /gene="FBRSL1"
                     /note="fibrosin like 1"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
     exon            1..711
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             421..2190
                     /gene="FBRSL1"
                     /note="isoform 5 is encoded by transcript variant 5;
                     fibrosin-1-like protein; HBV X-transactivated gene 9
                     protein; AUTS2-like protein; HBV XAg-transactivated
                     protein 9"
                     /codon_start=1
                     /product="fibrosin-1-like protein isoform 5"
                     /protein_id="NP_001369670.1"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
                     /translation="MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGK
                     ENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEEVIDGFAIASFSTLEALEKDMAL
                     KPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
                     SKQVCSPEGGPLPASHWDQNGPAQRQQQLQPSQSSQPQGSLPAPSALPDPGQPCQPSQ
                     RPLLGQRSWPQRSLLGLKQPCQPRRSLLGPGQPCRPQRLLPSPDQLCQPQRSRPAQPC
                     RPHWALPGPRQCCRRLRSLLTPCHHCRRLRSLLAPRSLLVPCLYCRRLRFLLAPRHRC
                     RRLRSLLTLWHRCRPLRPWASPCHCGQPGRASSGQRSRPLWSLLAQCQRYQPPRPLLT
                     LRPRRRPASFLPGQCCCPRRAFLAPCQYGQPRRSLLGQPSRPRRSLLRPRQPQRLVEA
                     PEQPGPLTPSLLGPGRPRQQKQPLMGPEQPCPPKRPLMGPEQPCQPLRPLMGPNKPCK
                     PQPLLPIPDRPSLLGQPGPPCRPLLGLLCQPRRSLLDLVPARQPRLSLLALGHPCRPL
                     RSRWTRSCAPGMARQAPSVSPGA"
     exon            712..909
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..3699
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3654..3659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: ATTAAA"
     regulatory      3663..3668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATAAA"
     polyA_site      3670
                     /gene="FBRSL1"
     polyA_site      3699
                     /gene="FBRSL1"
                     /note="major polyA site"
ORIGIN      
        1 gtcagttgtt atctgttcgg ggcgccgccg ccgcctcacg agcccggtgc ccaggagccc
       61 ggccgcctcc cgcctgccgc ctgccgcgcc cgcccggccc cgcccgctcg gcccgatcgc
      121 cgcgccgcgc gcatggggcg cgcccccggg ggggcggccg agggccgctg agcgccgggc
      181 ccgcccccgc cgatgcgccc agccgcccgc gccgggggtc ccaggccgcg ccgggcccgg
      241 ggctgagccg ccccccgcgc ccggcatgcc cggcccggcc cgccgcccgc cgccgcccag
      301 ggcccgagcc cgcgcggcgc acactcagcc cggcggcgcc gcgtagccga gggagcccgc
      361 ctgctgcgag ccaggcgcgg ggcgtcaagg tcaccggccc gacggggcgc acgcgcggcc
      421 atggaggcca aggtccgccc gagccggcgc tcgcgcgcgc agcgggaccg tggccggcgc
      481 cgggaggccg cccgcgacgc ccgcgcccag agtccgtcgt cgggcgacga gcccgagccc
      541 agccccggca aggagaacgc gggcctccgc ggcgcgcccc cccgaggcgc cgcccccgcg
      601 ccccgcaccg cgcgtccccc gcgccgccgc cgccgcgagt ccagctcgca ggaggaggag
      661 gtcatcgacg gcttcgccat cgccagcttc agcaccctgg aggccctgga gaaggatatg
      721 gccctgaagc cacatgagcg gaaggagaag tgggagcgtc gtctcatcaa gaagccccgg
      781 gagtcggaaa cctgcccccc tgcggagccc agtgagaaca ggcggcccct ggaggcaggc
      841 agccccgggc aggacctcga acccgcctgc gatggggcga gaaaggtccc actgcagccc
      901 tccaagcagg tgtgctcccc agaagggggg ccgctcccag ccagccactg ggaccagaac
      961 ggcccggccc agcgccagca acagctccag cccagccagt ccagccagcc ccaggggtcc
     1021 ctcccagccc cgtcggcact cccggaccct gggcagccct gccagccctc ccagcggcca
     1081 ctcctgggtc agcgcagctg gccccagcgg tcacttctgg gcctgaaaca gccctgccag
     1141 ccccggcggt cacttctggg ccccggtcag ccctgccggc cccagcggct ccttccatcc
     1201 ccagatcagc tctgccagcc ccagcggtca cgcccggccc agccctgccg gccgcattgg
     1261 gcactcccag gccccaggca gtgctgcagg cgcctgcggt ccctgctgac cccgtgtcac
     1321 cactgccggc gcctgcggtc cctcctggcc ccacggtccc tcctggtccc ctgcctctac
     1381 tgccggcgcc tgcggttcct cctggcccca aggcaccgct gcaggcgcct gcggtccctg
     1441 ctgaccctgt ggcaccgctg ccgacccctg cggccgtggg ccagcccgtg tcactgtggc
     1501 cagcccggta gggcatcctc aggacagcgc agccggcccc tgtggtcgct gctagcccag
     1561 tgccagcggt accagccccc gcggccactc ctcaccctcc gaccacgccg acggcccgcc
     1621 agcttcctcc caggacagtg ctgctgcccc cggcgggcct tcctagcccc gtgtcagtac
     1681 ggccagcccc gaaggtccct gctgggccag cccagccgcc cccggcggtc gctgctgcgc
     1741 cccaggcagc cccagcggtt agtggaagcc ccagagcagc ccggcccact cacgccttca
     1801 ctcctgggcc cgggacggcc gaggcagcag aagcagccgc tcatgggccc ggagcagccc
     1861 tgcccaccca agcggccgct catgggccca gagcagccct gccagcccct gcggccgctc
     1921 atgggcccca acaagccctg caaaccccag ccgttgctcc ccattcccga tcgcccttca
     1981 ctcctggggc agccgggccc accctgccgg cctctcctgg ggctcctgtg ccagccgcgg
     2041 cggtccctat tggatctggt gccggcccgt cagccccggc tctcgctcct ggccctgggc
     2101 catccctgcc ggcccctgcg gtcccggtgg acccgatcct gtgcccccgg gatggcccgt
     2161 caggccccat ctgtgagccc tggagcctga tgcctgcagg cacctcccca tatgggtttt
     2221 ccagcccact ccagtgtgat ctgcaccctg gcagggcccc aagggccaag gccgcattgc
     2281 ccttcgggct ggagatgctt tgccggacta gcctgaggcc ttgtctagac agggctgagc
     2341 tgtttgtcgt tggaaattga ggctcggcca gaggcgggag cccctacagt gccacgatca
     2401 ggctgaggct caccacacca ggaagagaga tgaacccgcg tctgcctgcc gccccgccat
     2461 gctccctctc cccccactgg cgtcacagtg cccccacccg cgttgctgcc tgtggtgtgc
     2521 gtgccctggg aggggaacac agcccctgag ggcggggacc ttgctggggg cccctcagcg
     2581 tctttctgtg cctctgaatt gccaatactg tccttgcatc tctgagtcta cgtgcacgct
     2641 tgcccctggc gtgccacctg tgcggagcgc gtgagcctgg tgtgtgcgtg ctgtgtgtgc
     2701 atgtgtgcga gagggtgtga gagtgagtgg cgtgctgggc atgaaggatc tgtggggtgc
     2761 tgcagttcct gcagagtggc ccagtggcga atggtgaagg tgtgggtttc agtccaggcc
     2821 ctccccctgg tagtcaggag gtgctggtgt ccacctccag ggcccccaag ctacaggggg
     2881 cacatgggcc catctggtgg gtcaggacct gcaggggacc cggaggctcc cacccccacc
     2941 tctcaggact ctgcctccac cacccccgtg ggcatgcact gaagggttgc ctgcagggtc
     3001 tccaggcgag ggggacccca cagggtgggc agcgccttct cccggcttcc ccacagtccc
     3061 ctgcagcgtc ccgtctggct gttgacctac atgtggtcgg gcacacctca cactacaagg
     3121 ctacccctgg gcccatccct gccccttcca cggcccccac ctgtggtcag gtgttgccac
     3181 cccctcagga cctggtctca aggcagcccc actcgagtct tctggagtcc aaggcacgcc
     3241 actcgcccaa aagggagggg gtgtttgggg gggctttgac tgtctccaga cctcagggga
     3301 gctgggcagg ctctaaccag tggtcctcca gagagcagcg ttgaccacct ggacccctgc
     3361 gccacgtgac aggaggctct ggtcctgcag gcctggtctt gcccagctgg gctgcctcag
     3421 gtgtcaggaa ggggatgggt gtccctggct cccaggccag gcagctgctg acctccagca
     3481 ccccgcactt gctcatgagg accccacccc cgcaggccct cccgggtcct gaccagcctc
     3541 tggtgcagca tctgctttgg cctccgggcc ccctcgctcc ccacccaccc gggccccttc
     3601 ctccggtgct cacctggggc ctccatccca gaagcgcagg gcttattttt ctgattaaag
     3661 aaaataaaaa gtgccgtgcc actatttttt ataacagca
//
