LOCUS       NM_001367871            4839 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens fibrosin like 1 (FBRSL1), transcript variant 2, mRNA.
ACCESSION   NM_001367871
VERSION     NM_001367871.1
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 4839)
  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 4839)
  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 4839)
  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.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##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)
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000680143.1/ ENSP00000505341.1
            RefSeq Select criteria    :: based on manual assertion, expression
            ##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
            1634-1797           AC131212.6         55069-55232
            1798-1854           AC131212.6         56289-56345
            1855-1950           AC131212.6         56528-56623
            1951-2019           AC131212.6         58091-58159
            2020-2049           AC131212.6         58320-58349
            2050-2121           AC131212.6         58494-58565
            2122-2254           AC131212.6         60800-60932
            2255-2332           AC131212.6         65440-65517
            2333-2416           AC131212.6         65742-65825
            2417-2621           AC131212.6         66063-66267
            2622-4839           AC131212.6         66972-69189
FEATURES             Location/Qualifiers
     source          1..4839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..4839
                     /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..3429
                     /gene="FBRSL1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001354800.1"
                     /db_xref="CCDS:CCDS91782.1"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
                     /translation="MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGK
                     ENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEEVIDGFAIASFSTLEALEKDMAL
                     KPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
                     SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASV
                     GSEKLFAPGTDKGPALEKSEAKAGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPG
                     PPPGSRANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGAFAGHSQAAANGLHG
                     LSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPAL
                     PASSLVLPGHPADASLAVSFSQPIMYCQPHSGILIGTWSQAPLLPAPLGPHVASGHPG
                     LACRPRECQFDKYAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQ
                     PKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKI
                     KEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGAAHPASNPFGPS
                     AHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHG
                     LPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKT
                     RLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPA
                     RASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFR
                     GLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAA
                     PALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPP
                     RSRTTPLGGLGPGEARDYSPSRNPPEVEAR"
     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..1797
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1798..1854
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..1950
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2019
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2020..2049
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2050..2121
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2122..2254
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2255..2332
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2333..2416
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..2621
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2622..4839
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3736
                     /gene="FBRSL1"
                     /note="major polyA site"
     regulatory      3934..3939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATAAT"
     polyA_site      3947
                     /gene="FBRSL1"
                     /note="major polyA site"
     regulatory      4816..4821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATACA"
     polyA_site      4839
                     /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 ccgatgccag cctggcggtc tcattcagcc agccaatcat gtattgccag
     1681 cctcattcgg gaattctgat tggtacttgg tcacaggctc ctctcttacc tgcacccctg
     1741 ggcccgcacg tggcgagcgg ccaccccggc ttggcctgcc gaccccggga gtgccagttt
     1801 gacaagtatg cgcccaagct ggacagcccc tacttccgac attccagcgt gagtttcttc
     1861 ccgtccttcc ctcctgccat cccgggactg cccaccctgc tcccacaccc cggccccttc
     1921 gggtccctgc agggcgcttt tcagcctaag acttcaagcc ccattgaggt ggcccgccgg
     1981 gctggtgcgg ttcacacact cctgcagaaa gcgcctgggg tgtctgaccc gtaccgggcg
     2041 gtggtcaaga agccggggag gtggtgtgcc gtgcacgtgc agatcgcctg gcagatctac
     2101 cgtcaccagc agaagataaa ggagatgcag ctggaccccc acaagctgga ggtgggtgca
     2161 aagctggacc tgttcggcag accccctgcc ccgggcgtgt ttgcaggctt ccactaccca
     2221 caggacctgg cccggcccct cttccccagc acaggtgccg cccatcctgc ctccaaccca
     2281 tttggaccct cagcccatcc tggcagcttc ctgcccactg gccccctgac agaccctttc
     2341 agcagaccga gcacctttgg gggcctgggc agcctgagca gccacgcctt tgggggcctg
     2401 ggcagccatg cactggctcc cggtggcagc atctttgccc ccaaggaggg ctcctccgtg
     2461 cacggcctgc ccagccccca tgaggcctgg aaccgactgc accgggcacc gccctccttc
     2521 ccggctccgc ccccgtggcc caagtccgtg gacgcggagc gggtgtcagc cctgaccaac
     2581 catgaccgag agccggacaa tggcaaggag gagcaggaac gggacctcct ggagaagacg
     2641 cgcctgctga gccgggcctc gcccgccacc cccgctggcc accccgtcag cggcctcctg
     2701 ctccgggccc agagcgagct gggccggtcc ggggcccccg cggagcgcga ggccgaacct
     2761 cgggtcaagg agagccgctc cccggccaag gaggaggccg ccaagatgcc cgcgcgcgca
     2821 tccccgcccc acagcaaggc ggcccctgga gacgtgaagg tcaaggagga gcgcggggag
     2881 gacgaggcct ccgagccccc ggcgggcggc ctgcaccccg cgcccctgca gctcggcctg
     2941 ggccgcgagc gcctgggcgc gccgggcttc gcgtgggagc ctttccgcgg cctggagctg
     3001 ccacgtcgcg ccttccccgc tgccgccccc gccccgggct ccgccgccct cttggagccc
     3061 ccggagcgcc cctaccgcga ccgcgagccc cacggctaca gccccgagcg cctgcgcggg
     3121 gagctggagc gcgcgcgggc cccgcacctg ccgcccgccg cccccgcctt ggacggcgcg
     3181 ctgctgccct cgctgggagc cctgcacttc ccgcgcctct cgcccgccgc gctgcacaat
     3241 gggctcctgg cgcggacccc gcccgccgcc gccgccctcg gcgcaccgcc ccccctggtg
     3301 acggcggccg ggccccccac gccccccggg ccgccgcgga gccggactac tccgctgggg
     3361 ggcctcgggc cgggcgaggc gcgcgactac tccccgtccc gaaatccccc ggaggtggag
     3421 gcgcggtagc cccggggccg cagacgcctc tccgagcgga gcgcaccgct gtccgtctct
     3481 ccatcagttc ctagaactca agcacagctc ccgccgatcc tggggcggcg ccgcctctcc
     3541 acccgcagcc tgcggaggcg gggacttggg tgtcggcttt tctgagggtg atcttttgtt
     3601 ttccgagttt gggattcggc tgttgggaaa aaaaaatcgc gtttgtacct tttcccccca
     3661 cagatgagaa gtgtttgtaa tggatttgta tttttcttaa ttttatgctc tttagacgtt
     3721 taaaagaacc aaaaaagaaa cttttgcttc ttcgttttcg gttgggattt gcagtttaat
     3781 ggcctcagat ccttctccag atccccaggg tttctttgtc ttatttatgg agaaaaaccg
     3841 gtcactttgt ccagcgcact gtgaggcccc cactcaggcc agccctggcc cccccttggt
     3901 acttggaacc gaagttacag attatattaa aataataatg tacaaaactt tgtttttttg
     3961 ccttattatg cagaagtgta atttcttttt tggtttgttt ttttaaaagc aaacgaaacg
     4021 tgtaaatagt ctgttgatat aaatatatga cgttactaaa ttcttaatct agatagactt
     4081 tataaaaacc gtttccagaa acccctctgg ttgtttgtct aacatggtca caaaaaccca
     4141 ggcgctgctg gctgtaaaca ttatcagaag tttaatggca gcaactttcc ttcaactatg
     4201 caagcgcttc ccggcggctc tgctggttgg gggaggaagg ttccgccagc gacctcccag
     4261 cccctgggtc cgtggagggg ttgggtcccc cagcagagcc cctgggccag cagaacagca
     4321 ctcctgggcg gctcctgtgg gcttcaggac tggccggctc cagccgcaag ggcgatgctg
     4381 tggacgtttg tgtggatggt gcagtgttct tggaatctgt agaccagatc ggtggaggta
     4441 tagaagtgca agagtctaaa ggctgatttt acacacacac acacacacac acacacacac
     4501 acaaaatcac tgctgtgtgt tttcttccgc ctgaggcatc agcgtcacct cggtgtggtc
     4561 gtcgcctccc aggcccttgg cctggcctcc tctcagtttg ggttttgccc tcacccacat
     4621 gagccccccc atgccctgcc ccccttgcgg ccttttgtgt tccccgatgt ctgggctgtg
     4681 tccctgccgg gattcccagc cttcggggtc agccgtcgag ccacttgctt tgctcagttc
     4741 tgtgtttcag ccacatttcc acggtggacc ctgtttgttt taaatattct gttcccatgt
     4801 caatcagtga cgataaatac agccttgatt tggatgaaa
//
