LOCUS       NM_001286195            2503 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens chromosome 12 open reading frame 43 (C12orf43),
            transcript variant 4, mRNA.
ACCESSION   NM_001286195 XM_005253928
VERSION     NM_001286195.2
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 2503)
  AUTHORS   Qammar,N., Zain,M., Jabeen,R., Deeba,F., Iqbal,N., Rashad
            Javeed,H.M., Alatawi,F.S., Alatawi,M.S., Almowallad,S.,
            Alharbi,A.A. and Sahin,H.
  TITLE     Association of a single-nucleotide polymorphism in C12orf43 region
            with the risk of coronary artery disease
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (2), 24-29 (2024)
   PUBMED   38430045
  REMARK    GeneRIF: Association of a single-nucleotide polymorphism in
            C12orf43 region with the risk of coronary artery disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2503)
  AUTHORS   Shahzadi,S., Shabana, Chaudhry,M., Arooj,I. and Hasnain,S.
  TITLE     A Single-Nucleotide Polymorphism in C12orf43 Region is Associated
            with the Risk of Coronary Artery Disease in a Pakistani Cohort
  JOURNAL   Biochem Genet 54 (5), 676-684 (2016)
   PUBMED   27263109
  REMARK    GeneRIF: Study provides evidence that C12orf43/rs2258287 was
            associated with the risk of coronary artery disease in the studied
            Pakistani cohort.
REFERENCE   3  (bases 1 to 2503)
  AUTHORS   Lemaitre,R.N., King,I.B., Kabagambe,E.K., Wu,J.H., McKnight,B.,
            Manichaikul,A., Guan,W., Sun,Q., Chasman,D.I., Foy,M., Wang,L.,
            Zhu,J., Siscovick,D.S., Tsai,M.Y., Arnett,D.K., Psaty,B.M.,
            Djousse,L., Chen,Y.D., Tang,W., Weng,L.C., Wu,H., Jensen,M.K.,
            Chu,A.Y., Jacobs,D.R. Jr., Rich,S.S., Mozaffarian,D., Steffen,L.,
            Rimm,E.B., Hu,F.B., Ridker,P.M., Fornage,M. and Friedlander,Y.
  TITLE     Genetic loci associated with circulating levels of very long-chain
            saturated fatty acids
  JOURNAL   J Lipid Res 56 (1), 176-184 (2015)
   PUBMED   25378659
REFERENCE   4  (bases 1 to 2503)
  AUTHORS   Komiya,Y., Mandrekar,N., Sato,A., Dawid,I.B. and Habas,R.
  TITLE     Custos controls beta-catenin to regulate head development during
            vertebrate embryogenesis
  JOURNAL   Proc Natl Acad Sci U S A 111 (36), 13099-13104 (2014)
   PUBMED   25157132
REFERENCE   5  (bases 1 to 2503)
  AUTHORS   Vinayagamoorthy,N., Hu,H.J., Yim,S.H., Jung,S.H., Jo,J., Jee,S.H.
            and Chung,Y.J.
  TITLE     New variants including ARG1 polymorphisms associated with
            C-reactive protein levels identified by genome-wide association and
            pathway analysis
  JOURNAL   PLoS One 9 (4), e95866 (2014)
   PUBMED   24763700
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2503)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   7  (bases 1 to 2503)
  AUTHORS   Yuan,X., Waterworth,D., Perry,J.R., Lim,N., Song,K., Chambers,J.C.,
            Zhang,W., Vollenweider,P., Stirnadel,H., Johnson,T., Bergmann,S.,
            Beckmann,N.D., Li,Y., Ferrucci,L., Melzer,D., Hernandez,D.,
            Singleton,A., Scott,J., Elliott,P., Waeber,G., Cardon,L.,
            Frayling,T.M., Kooner,J.S. and Mooser,V.
  TITLE     Population-based genome-wide association studies reveal six loci
            influencing plasma levels of liver enzymes
  JOURNAL   Am J Hum Genet 83 (4), 520-528 (2008)
   PUBMED   18940312
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK301566.1, BC014661.1 and AC079602.15.
            
            On Jun 2, 2019 this sequence version replaced NM_001286195.1.
            
            Transcript Variant: This variant (4) uses alternate splice sites at
            three coding exons, but maintains the reading frame, compared to
            variant 1. The encoded isoform (d) is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301566.1, SRR1660807.135678.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-652               AK301566.1         1-652
            653-1862            BC014661.1         675-1884
            1863-2503           AC079602.15        135883-136523
FEATURES             Location/Qualifiers
     source          1..2503
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..2503
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="chromosome 12 open reading frame 43"
                     /db_xref="GeneID:64897"
                     /db_xref="HGNC:HGNC:25719"
     exon            1..158
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..772
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="isoform d is encoded by transcript variant 4;
                     uncharacterized protein C12orf43; protein CUSTOS"
                     /codon_start=1
                     /product="protein CUSTOS isoform d"
                     /protein_id="NP_001273124.1"
                     /db_xref="CCDS:CCDS66487.1"
                     /db_xref="GeneID:64897"
                     /db_xref="HGNC:HGNC:25719"
                     /translation="MAAPSGTVSDSESSNSSSDAEELERCREAAMPAWGLEQRPHVAG
                     KPRAGAANSQLSTSQPSLRHKVNEHEQDGNELQTTPEFRAHVAKKLGALLDSFITISE
                     AAKEPAKAKVQKVALEDDGREKEESPQPRRKRQPSSSSSEDSDEEWRRCREAAVSASD
                     ILQESAIHSPGTVEKEAKKKRKLKKKAKKVASVDSAVAATTPTSMATVQKQKSGELNG
                     DQVSLGTKKKKKAKKASETSPFPPAKSATAIPAN"
     exon            159..201
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            202..300
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            301..374
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            375..432
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            433..2503
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1468..1473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AGTAAA"
     polyA_site      1490
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     regulatory      2450..2455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AATAAA"
     polyA_site      2482
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     polyA_site      2503
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
ORIGIN      
        1 gcggtggttc aagatggcgg cgcccagtgg cacagtgagc gattcggaaa gtagtaacag
       61 cagtagcgat gcggaggagc tggagcggtg ccgcgaggcg gcaatgccgg cttggggctt
      121 ggagcaacgc ccgcacgtgg cagggaagcc aagagccggt gctgcaaata gccagttgtc
      181 aacctcccaa ccgagcctca ggcataaggt gaatgagcat gaacaagatg gcaacgagct
      241 tcagaccacc cctgaattcc gagcccacgt agccaagaag ctgggagccc tgctggacag
      301 cttcattacc atctcagaag cagcaaagga gccagcaaaa gctaaggtac agaaagtcgc
      361 tttggaggat gatggccgtg agaaggaaga gtctccccaa ccccgccgaa agcgacagcc
      421 ctccagctcc agcagtgagg acagtgacga ggagtggcgg cggtgccggg aggcagctgt
      481 gtcggcgtcc gacatcctac aggagtcagc catccacagc cctggaacag tggagaagga
      541 ggcaaagaag aaaaggaagt tgaaaaagaa agccaagaag gtggccagtg tcgactcggc
      601 tgtcgctgcc accaccccca ccagcatggc cacagtccag aagcagaagt caggtgagct
      661 caacggggac caggtgtcgc ttgggaccaa aaagaagaaa aaggcaaaga aggccagcga
      721 gacctctcca ttcccaccag caaagagtgc tacagctata cctgcaaact gaacccagcc
      781 atgggcacag ggctcagcca gctccaagga caaggtgtcc cccccaccct ggggacaagg
      841 catttccaag ccccacctcc ctctccaagt tcaaggactg ggctggcaaa cccagactgc
      901 ccatgagacc ctgatggtga tgaaggcttg ctcgagagtt gggccaaaaa agtggctgta
      961 gggtgagaag accaatcaag gcctgcccct ctgtgctccc acggagggct ggcgggggcg
     1021 ctgtggttcc agaacatttc atgacctcag gaaaaaagga accttccagt tatttgagac
     1081 tagtggccaa gtggtgaaac ctccatctcc ctagaactgt ctgaggtggg caggggaagg
     1141 gagaccttcc ccaccacctc cttagcctgg tgtgagaaac agtttttaga aaatgagaga
     1201 agggatcccc aagaggccaa ggcccagaga aacttttgtt cttctctcct tagcccacat
     1261 agacttcaca gaatcgtctg agaaaggaga gctttttcac ccctggcttt ctagaatttt
     1321 ctttgtctgc atttgtgaat ataccacaca tgatggtgtc tctgagccga ccagattatg
     1381 gaaactcaat tgtcagagga cccaaaacaa aacttagagt gatttggata ttgcctctct
     1441 gtcaatgctg aaccttaaga cattttaagt aaacatcctc ctcctctcta cacccccagg
     1501 atttgtgcgt tcaccccacc caagacttca ggaagtgtca tagcactcgt ggactaggtt
     1561 tcatgggaca aaggcattct gcaagaagta gaagcttgtg gccgggtgca gtggctcatg
     1621 cctgtaatcc aagcattttg agaggccaag gaggtggatc aattgaggcc aggagtttga
     1681 gaccagcctg gccaacatgg cgagacccca tctctactaa aaatacaaaa attagctgag
     1741 catgttgaca cacgcccgta atcccagcta ctcaggaggc tgaggtggga gaatcgcttg
     1801 aacccaggag gtgcaggttg cagtgagccg agattgcgcc actgcactct agcctaagca
     1861 atggagcaag accctatctc aaaaaaaaaa aaagaaaaag aaaaagaaaa gaagtagaag
     1921 ctcatggcca gggatggtgg ctcacacctg taatcccagc actttgggag gccgaggcag
     1981 gtggatcact tgagccgagt tccagaccag cctaggcaac atggtgaaac ctcgtctcta
     2041 taaaaaaaag aatacaaaaa ttagttgggc atggtagtga gcgcctgtga ggctgcttgt
     2101 gaggctgagg tgggaggatc cctttagtcc aggagttcaa ggctgcagtg agctgtataa
     2161 tgccactgca gtccagcctg ggtgacagtg agaccctgtc tccaaaacaa aattttttta
     2221 aaaagtagaa gcttgaggtt aagatgaaat ctggctttgt cattagagtc tcagcagagc
     2281 aagaaaagca gagatgtggg gtgtgagagc gtgggtgctg gagcctgtct cctcttcgca
     2341 ggcctctggc ctgccccagc ctcccgctac ctgcccaaac cccatctgaa tgatttgtgg
     2401 acaagcaaga agtttccacc gcatttctcc ttgactttac taaaagttaa ataaacgtgc
     2461 cactcgcccc ggctggctac aagctgcagg gggtgccggg tca
//
