LOCUS       NM_001382739            4893 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens fibrosin like 1 (FBRSL1), transcript variant 3, mRNA.
ACCESSION   NM_001382739
VERSION     NM_001382739.1
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 4893)
  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 4893)
  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 4893)
  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 and AC131212.6.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968832 [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
            910-999             AC131212.6         9735-9824
            1000-1035           AC131212.6         11954-11989
            1036-1065           AC131212.6         32004-32033
            1066-1111           AC131212.6         51482-51527
            1112-1427           AC131212.6         53927-54242
            1428-1633           AC131212.6         54336-54541
            1634-1851           AC131212.6         55308-55525
            1852-1908           AC131212.6         56289-56345
            1909-2004           AC131212.6         56528-56623
            2005-2073           AC131212.6         58091-58159
            2074-2103           AC131212.6         58320-58349
            2104-2175           AC131212.6         58494-58565
            2176-2308           AC131212.6         60800-60932
            2309-2386           AC131212.6         65440-65517
            2387-2470           AC131212.6         65742-65825
            2471-2675           AC131212.6         66063-66267
            2676-4893           AC131212.6         66972-69189
FEATURES             Location/Qualifiers
     source          1..4893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..4893
                     /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..3483
                     /gene="FBRSL1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     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 3"
                     /protein_id="NP_001369668.1"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
                     /translation="MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGK
                     ENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEEVIDGFAIASFSTLEALEKDMAL
                     KPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
                     SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASV
                     GSEKLFAPGTDKGPALEKSEAKAGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPG
                     PPPGSRANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGAFAGHSQAAANGLHG
                     LSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPAL
                     PASSLVLPGHPADHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTH
                     QHTHQHQHTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSFFPSFPPAIPGL
                     PTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRW
                     CAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARP
                     LFPSTGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHA
                     LAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHD
                     REPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEP
                     RVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQL
                     GLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPE
                     RLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALG
                     APPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR"
     exon            712..909
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..999
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1035
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1065
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1111
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1427
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1633
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1851
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..1908
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1909..2004
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2005..2073
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2074..2103
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2175
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2176..2308
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..2386
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2387..2470
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2471..2675
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2676..4893
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3790
                     /gene="FBRSL1"
                     /note="major polyA site"
     regulatory      3988..3993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATAAT"
     polyA_site      4001
                     /gene="FBRSL1"
                     /note="major polyA site"
     regulatory      4870..4875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATACA"
     polyA_site      4893
                     /gene="FBRSL1"
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 tccaagcaga tgaaggtcac cgtgtccaaa gggggcgacc gggacagtga cgacgacagc
      961 gtcctcgaag ccaccagctc ccgggacccg ctcagcgata gctctgcgca tgcggtctcg
     1021 gggagaggct actcttgtga cagcgagagc ggcccggacg acaaggcatc cgtgggctct
     1081 gagaagctct ttgcgccggg aaccgataaa ggcccagcgc ttgagaagtc ggaggccaag
     1141 gccgggccgg tgcccaaggt gtcaggcctg gagcgcagcc gcgagctcag cgccgagagc
     1201 ttcctgccca ctgccagccc cgcgccccat gccgcgccct gcccggggcc cccgcccggc
     1261 tcccgcgcca atcccttggt gaagaaggaa ccccccgccc cgcaccgcca caccccgcag
     1321 ccgccacccc cgcagccccg cggcctgctc ccgacacacg tgcctgcatc cctgggcgcc
     1381 ttcgcgggcc acagccaggc ggcagccaac ggcctgcacg gcctcagcag gagcagcagc
     1441 gcccccctgg gcctggggaa gcacgtgtcg ctgtcgccac acgggccggg cccccacctg
     1501 tctacctcac acctggcgct ccggtcccag gcgcagcacc agctccacgc ggccatgttt
     1561 gccgcacccc cgacactgcc cccgcccccg gcgctgccgg ccagcagcct ggtcctccca
     1621 ggacacccgg ccgatcacga gctgctcagg caagagctga acacgcggtt tctggtgcag
     1681 agcgccgagc ggcctggcgc ctccctgggc ccgggggctc tgctgcgggc ggagttccat
     1741 cagcaccagc acacacacca gcacacgcac caacacacac accagcacca acacacattc
     1801 gcccccttcc ccgcagggct gcccccgacg ccgcccgccg cacccccgcc gtttgacaag
     1861 tatgcgccca agctggacag cccctacttc cgacattcca gcgtgagttt cttcccgtcc
     1921 ttccctcctg ccatcccggg actgcccacc ctgctcccac accccggccc cttcgggtcc
     1981 ctgcagggcg cttttcagcc taagacttca agccccattg aggtggcccg ccgggctggt
     2041 gcggttcaca cactcctgca gaaagcgcct ggggtgtctg acccgtaccg ggcggtggtc
     2101 aagaagccgg ggaggtggtg tgccgtgcac gtgcagatcg cctggcagat ctaccgtcac
     2161 cagcagaaga taaaggagat gcagctggac ccccacaagc tggaggtggg tgcaaagctg
     2221 gacctgttcg gcagaccccc tgccccgggc gtgtttgcag gcttccacta cccacaggac
     2281 ctggcccggc ccctcttccc cagcacaggt gccgcccatc ctgcctccaa cccatttgga
     2341 ccctcagccc atcctggcag cttcctgccc actggccccc tgacagaccc tttcagcaga
     2401 ccgagcacct ttgggggcct gggcagcctg agcagccacg cctttggggg cctgggcagc
     2461 catgcactgg ctcccggtgg cagcatcttt gcccccaagg agggctcctc cgtgcacggc
     2521 ctgcccagcc cccatgaggc ctggaaccga ctgcaccggg caccgccctc cttcccggct
     2581 ccgcccccgt ggcccaagtc cgtggacgcg gagcgggtgt cagccctgac caaccatgac
     2641 cgagagccgg acaatggcaa ggaggagcag gaacgggacc tcctggagaa gacgcgcctg
     2701 ctgagccggg cctcgcccgc cacccccgct ggccaccccg tcagcggcct cctgctccgg
     2761 gcccagagcg agctgggccg gtccggggcc cccgcggagc gcgaggccga acctcgggtc
     2821 aaggagagcc gctccccggc caaggaggag gccgccaaga tgcccgcgcg cgcatccccg
     2881 ccccacagca aggcggcccc tggagacgtg aaggtcaagg aggagcgcgg ggaggacgag
     2941 gcctccgagc ccccggcggg cggcctgcac cccgcgcccc tgcagctcgg cctgggccgc
     3001 gagcgcctgg gcgcgccggg cttcgcgtgg gagcctttcc gcggcctgga gctgccacgt
     3061 cgcgccttcc ccgctgccgc ccccgccccg ggctccgccg ccctcttgga gcccccggag
     3121 cgcccctacc gcgaccgcga gccccacggc tacagccccg agcgcctgcg cggggagctg
     3181 gagcgcgcgc gggccccgca cctgccgccc gccgcccccg ccttggacgg cgcgctgctg
     3241 ccctcgctgg gagccctgca cttcccgcgc ctctcgcccg ccgcgctgca caatgggctc
     3301 ctggcgcgga ccccgcccgc cgccgccgcc ctcggcgcac cgccccccct ggtgacggcg
     3361 gccgggcccc ccacgccccc cgggccgccg cggagccgga ctactccgct ggggggcctc
     3421 gggccgggcg aggcgcgcga ctactccccg tcccgaaatc ccccggaggt ggaggcgcgg
     3481 tagccccggg gccgcagacg cctctccgag cggagcgcac cgctgtccgt ctctccatca
     3541 gttcctagaa ctcaagcaca gctcccgccg atcctggggc ggcgccgcct ctccacccgc
     3601 agcctgcgga ggcggggact tgggtgtcgg cttttctgag ggtgatcttt tgttttccga
     3661 gtttgggatt cggctgttgg gaaaaaaaaa tcgcgtttgt accttttccc cccacagatg
     3721 agaagtgttt gtaatggatt tgtatttttc ttaattttat gctctttaga cgtttaaaag
     3781 aaccaaaaaa gaaacttttg cttcttcgtt ttcggttggg atttgcagtt taatggcctc
     3841 agatccttct ccagatcccc agggtttctt tgtcttattt atggagaaaa accggtcact
     3901 ttgtccagcg cactgtgagg cccccactca ggccagccct ggccccccct tggtacttgg
     3961 aaccgaagtt acagattata ttaaaataat aatgtacaaa actttgtttt tttgccttat
     4021 tatgcagaag tgtaatttct tttttggttt gtttttttaa aagcaaacga aacgtgtaaa
     4081 tagtctgttg atataaatat atgacgttac taaattctta atctagatag actttataaa
     4141 aaccgtttcc agaaacccct ctggttgttt gtctaacatg gtcacaaaaa cccaggcgct
     4201 gctggctgta aacattatca gaagtttaat ggcagcaact ttccttcaac tatgcaagcg
     4261 cttcccggcg gctctgctgg ttgggggagg aaggttccgc cagcgacctc ccagcccctg
     4321 ggtccgtgga ggggttgggt cccccagcag agcccctggg ccagcagaac agcactcctg
     4381 ggcggctcct gtgggcttca ggactggccg gctccagccg caagggcgat gctgtggacg
     4441 tttgtgtgga tggtgcagtg ttcttggaat ctgtagacca gatcggtgga ggtatagaag
     4501 tgcaagagtc taaaggctga ttttacacac acacacacac acacacacac acacacaaaa
     4561 tcactgctgt gtgttttctt ccgcctgagg catcagcgtc acctcggtgt ggtcgtcgcc
     4621 tcccaggccc ttggcctggc ctcctctcag tttgggtttt gccctcaccc acatgagccc
     4681 ccccatgccc tgcccccctt gcggcctttt gtgttccccg atgtctgggc tgtgtccctg
     4741 ccgggattcc cagccttcgg ggtcagccgt cgagccactt gctttgctca gttctgtgtt
     4801 tcagccacat ttccacggtg gaccctgttt gttttaaata ttctgttccc atgtcaatca
     4861 gtgacgataa atacagcctt gatttggatg aaa
//
