LOCUS       NM_001286198            2793 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens chromosome 12 open reading frame 43 (C12orf43),
            transcript variant 7, mRNA.
ACCESSION   NM_001286198 XM_005253930
VERSION     NM_001286198.2
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 2793)
  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 2793)
  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 2793)
  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 2793)
  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 2793)
  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 2793)
  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 2793)
  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
            AK307971.1, BP201132.1, AK299170.1, AK225162.1, BC014661.1 and
            AC079602.15.
            
            On Jun 2, 2019 this sequence version replaced NM_001286198.1.
            
            Transcript Variant: This variant (7) contains an alternate exon and
            uses alternate splice sites at two coding exons, compared to
            variant 1. It initiates translation at an alternate start codon.
            The encoded isoform (g) has a distinct N-terminus and 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 :: AK299170.1, SRR1660809.86014.1
                                           [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
            1-33                AK307971.1         18-50
            34-34               BP201132.1         44-44
            35-460              AK299170.1         36-461
            461-846             AK225162.1         214-599
            847-2152            BC014661.1         579-1884
            2153-2793           AC079602.15        135883-136523
FEATURES             Location/Qualifiers
     source          1..2793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..2793
                     /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"
     exon            159..415
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     CDS             397..1062
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="isoform g is encoded by transcript variant 7;
                     uncharacterized protein C12orf43; protein CUSTOS"
                     /codon_start=1
                     /product="protein CUSTOS isoform g"
                     /protein_id="NP_001273127.1"
                     /db_xref="CCDS:CCDS66486.1"
                     /db_xref="GeneID:64897"
                     /db_xref="HGNC:HGNC:25719"
                     /translation="MFCQNPGAANSQLSTSQPSLRHKVNEHEQDGNELQTTPEFRAHV
                     AKKLGALLDSFITISEAAKEPAKAKVQKVALEDDGFRLFFTSVPGGREKEESPQPRRK
                     RQPSSSSSEDSDEEWRRCREAAVSASDILQESAIHSPGTVEKEAKKKRKLKKKAKKVA
                     SVDSAVAATTPTSMATVQKQKSGELNGDQVSLGTKKKKKAKKASETSPFPPAKSATAI
                     PAN"
     exon            416..458
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            459..557
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            558..631
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            632..722
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            723..2793
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1758..1763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AGTAAA"
     polyA_site      1780
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AATAAA"
     polyA_site      2772
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     polyA_site      2793
                     /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 aagagccgta gagatggggt ttcaccatgt
      181 tgaccaggat ggtctcgatc tcttgacctc gtgatccgcc tgcctcagcc tcccaaagtg
      241 ctgggattac aggcgtgagc caccgcgccc ggccttgact ccatcttaaa agtgcatcta
      301 tctggagttc acccacttct caccacatca attactgcag cagactccgt gttcctgcct
      361 ttgccccaac agtctcacgc tgcacagcag ccaaagatgt tctgtcaaaa cccaggtgct
      421 gcaaatagcc agttgtcaac ctcccaaccg agcctcaggc ataaggtgaa tgagcatgaa
      481 caagatggca acgagcttca gaccacccct gaattccgag cccacgtagc caagaagctg
      541 ggagccctgc tggacagctt cattaccatc tcagaagcag caaaggagcc agcaaaagct
      601 aaggtacaga aagtcgcttt ggaggatgat ggtttccgcc ttttcttcac atctgtccct
      661 ggaggccgtg agaaggaaga gtctccccaa ccccgccgaa agcgacagcc ctccagctcc
      721 agcagtgagg acagtgacga ggagtggcgg cggtgccggg aggcagctgt gtcggcgtcc
      781 gacatcctac aggagtcagc catccacagc cctggaacag tggagaagga ggcaaagaag
      841 aaaaggaagt tgaaaaagaa agccaagaag gtggccagtg tcgactcggc tgtcgctgcc
      901 accaccccca ccagcatggc cacagtccag aagcagaagt caggtgagct caacggggac
      961 caggtgtcgc ttgggaccaa aaagaagaaa aaggcaaaga aggccagcga gacctctcca
     1021 ttcccaccag caaagagtgc tacagctata cctgcaaact gaacccagcc atgggcacag
     1081 ggctcagcca gctccaagga caaggtgtcc cccccaccct ggggacaagg catttccaag
     1141 ccccacctcc ctctccaagt tcaaggactg ggctggcaaa cccagactgc ccatgagacc
     1201 ctgatggtga tgaaggcttg ctcgagagtt gggccaaaaa agtggctgta gggtgagaag
     1261 accaatcaag gcctgcccct ctgtgctccc acggagggct ggcgggggcg ctgtggttcc
     1321 agaacatttc atgacctcag gaaaaaagga accttccagt tatttgagac tagtggccaa
     1381 gtggtgaaac ctccatctcc ctagaactgt ctgaggtggg caggggaagg gagaccttcc
     1441 ccaccacctc cttagcctgg tgtgagaaac agtttttaga aaatgagaga agggatcccc
     1501 aagaggccaa ggcccagaga aacttttgtt cttctctcct tagcccacat agacttcaca
     1561 gaatcgtctg agaaaggaga gctttttcac ccctggcttt ctagaatttt ctttgtctgc
     1621 atttgtgaat ataccacaca tgatggtgtc tctgagccga ccagattatg gaaactcaat
     1681 tgtcagagga cccaaaacaa aacttagagt gatttggata ttgcctctct gtcaatgctg
     1741 aaccttaaga cattttaagt aaacatcctc ctcctctcta cacccccagg atttgtgcgt
     1801 tcaccccacc caagacttca ggaagtgtca tagcactcgt ggactaggtt tcatgggaca
     1861 aaggcattct gcaagaagta gaagcttgtg gccgggtgca gtggctcatg cctgtaatcc
     1921 aagcattttg agaggccaag gaggtggatc aattgaggcc aggagtttga gaccagcctg
     1981 gccaacatgg cgagacccca tctctactaa aaatacaaaa attagctgag catgttgaca
     2041 cacgcccgta atcccagcta ctcaggaggc tgaggtggga gaatcgcttg aacccaggag
     2101 gtgcaggttg cagtgagccg agattgcgcc actgcactct agcctaagca atggagcaag
     2161 accctatctc aaaaaaaaaa aaagaaaaag aaaaagaaaa gaagtagaag ctcatggcca
     2221 gggatggtgg ctcacacctg taatcccagc actttgggag gccgaggcag gtggatcact
     2281 tgagccgagt tccagaccag cctaggcaac atggtgaaac ctcgtctcta taaaaaaaag
     2341 aatacaaaaa ttagttgggc atggtagtga gcgcctgtga ggctgcttgt gaggctgagg
     2401 tgggaggatc cctttagtcc aggagttcaa ggctgcagtg agctgtataa tgccactgca
     2461 gtccagcctg ggtgacagtg agaccctgtc tccaaaacaa aattttttta aaaagtagaa
     2521 gcttgaggtt aagatgaaat ctggctttgt cattagagtc tcagcagagc aagaaaagca
     2581 gagatgtggg gtgtgagagc gtgggtgctg gagcctgtct cctcttcgca ggcctctggc
     2641 ctgccccagc ctcccgctac ctgcccaaac cccatctgaa tgatttgtgg acaagcaaga
     2701 agtttccacc gcatttctcc ttgactttac taaaagttaa ataaacgtgc cactcgcccc
     2761 ggctggctac aagctgcagg gggtgccggg tca
//
