LOCUS       NM_022895               4469 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens chromosome 12 open reading frame 43 (C12orf43),
            transcript variant 3, mRNA.
ACCESSION   NM_022895
VERSION     NM_022895.3
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 4469)
  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 4469)
  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 4469)
  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 4469)
  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 4469)
  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 4469)
  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 4469)
  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, AK022510.1, AK301566.1, BC014661.1 and
            AC079602.15.
            
            On Jun 2, 2019 this sequence version replaced NM_022895.2.
            
            Transcript Variant: This variant (3) uses an alternate splice site
            at a coding exon, but maintains the reading frame, compared to
            variant 1. The encoded isoform (c) 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 :: SRR1660809.140397.1,
                                           SRR1803616.205250.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031, SAMN03267778
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288757.7/ ENSP00000288757.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-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
            35-558              AK022510.1         45-568
            559-559             AK301566.1         529-529
            560-1892            BC014661.1         552-1884
            1893-4469           AC079602.15        135883-138459
FEATURES             Location/Qualifiers
     source          1..4469
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..4469
                     /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..802
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="isoform c is encoded by transcript variant 3;
                     uncharacterized protein C12orf43; protein CUSTOS"
                     /codon_start=1
                     /product="protein CUSTOS isoform c"
                     /protein_id="NP_075046.1"
                     /db_xref="CCDS:CCDS9210.1"
                     /db_xref="GeneID:64897"
                     /db_xref="HGNC:HGNC:25719"
                     /translation="MAAPSGTVSDSESSNSSSDAEELERCREAAMPAWGLEQRPHVAG
                     KPRAGAANSQLSTSQPSLRHKVNEHEQDGNELQTTPEFRAHVAKKLGALLDSFITISE
                     AAKEPAKAKVQKVALEDDGFRLFFTSVPGGREKEESPQPRRKRQPSSSSEDSDEEWRR
                     CREAAVSASDILQESAIHSPGTVEKEAKKKRKLKKKAKKVASVDSAVAATTPTSMATV
                     QKQKSGELNGDQVSLGTKKKKKAKKASETSPFPPAKSATAIPAN"
     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..465
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     exon            466..4469
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1498..1503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AGTAAA"
     polyA_site      1520
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     regulatory      2480..2485
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AATAAA"
     polyA_site      2512
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     polyA_site      2533
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="major polyA site"
     regulatory      4438..4443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf43"
                     /gene_synonym="Custos"
                     /note="hexamer: AATAAA"
     polyA_site      4469
                     /gene="C12orf43"
                     /gene_synonym="Custos"
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 gatggtttcc gccttttctt cacatctgtc cctggaggcc gtgagaagga
      421 agagtctccc caaccccgcc gaaagcgaca gccctccagc tccagtgagg acagtgacga
      481 ggagtggcgg cggtgccggg aggcagctgt gtcggcgtcc gacatcctac aggagtcagc
      541 catccacagc cctggaacag tggagaagga ggcaaagaag aaaaggaagt tgaaaaagaa
      601 agccaagaag gtggccagtg tcgactcggc tgtcgctgcc accaccccca ccagcatggc
      661 cacagtccag aagcagaagt caggtgagct caacggggac caggtgtcgc ttgggaccaa
      721 aaagaagaaa aaggcaaaga aggccagcga gacctctcca ttcccaccag caaagagtgc
      781 tacagctata cctgcaaact gaacccagcc atgggcacag ggctcagcca gctccaagga
      841 caaggtgtcc cccccaccct ggggacaagg catttccaag ccccacctcc ctctccaagt
      901 tcaaggactg ggctggcaaa cccagactgc ccatgagacc ctgatggtga tgaaggcttg
      961 ctcgagagtt gggccaaaaa agtggctgta gggtgagaag accaatcaag gcctgcccct
     1021 ctgtgctccc acggagggct ggcgggggcg ctgtggttcc agaacatttc atgacctcag
     1081 gaaaaaagga accttccagt tatttgagac tagtggccaa gtggtgaaac ctccatctcc
     1141 ctagaactgt ctgaggtggg caggggaagg gagaccttcc ccaccacctc cttagcctgg
     1201 tgtgagaaac agtttttaga aaatgagaga agggatcccc aagaggccaa ggcccagaga
     1261 aacttttgtt cttctctcct tagcccacat agacttcaca gaatcgtctg agaaaggaga
     1321 gctttttcac ccctggcttt ctagaatttt ctttgtctgc atttgtgaat ataccacaca
     1381 tgatggtgtc tctgagccga ccagattatg gaaactcaat tgtcagagga cccaaaacaa
     1441 aacttagagt gatttggata ttgcctctct gtcaatgctg aaccttaaga cattttaagt
     1501 aaacatcctc ctcctctcta cacccccagg atttgtgcgt tcaccccacc caagacttca
     1561 ggaagtgtca tagcactcgt ggactaggtt tcatgggaca aaggcattct gcaagaagta
     1621 gaagcttgtg gccgggtgca gtggctcatg cctgtaatcc aagcattttg agaggccaag
     1681 gaggtggatc aattgaggcc aggagtttga gaccagcctg gccaacatgg cgagacccca
     1741 tctctactaa aaatacaaaa attagctgag catgttgaca cacgcccgta atcccagcta
     1801 ctcaggaggc tgaggtggga gaatcgcttg aacccaggag gtgcaggttg cagtgagccg
     1861 agattgcgcc actgcactct agcctaagca atggagcaag accctatctc aaaaaaaaaa
     1921 aaagaaaaag aaaaagaaaa gaagtagaag ctcatggcca gggatggtgg ctcacacctg
     1981 taatcccagc actttgggag gccgaggcag gtggatcact tgagccgagt tccagaccag
     2041 cctaggcaac atggtgaaac ctcgtctcta taaaaaaaag aatacaaaaa ttagttgggc
     2101 atggtagtga gcgcctgtga ggctgcttgt gaggctgagg tgggaggatc cctttagtcc
     2161 aggagttcaa ggctgcagtg agctgtataa tgccactgca gtccagcctg ggtgacagtg
     2221 agaccctgtc tccaaaacaa aattttttta aaaagtagaa gcttgaggtt aagatgaaat
     2281 ctggctttgt cattagagtc tcagcagagc aagaaaagca gagatgtggg gtgtgagagc
     2341 gtgggtgctg gagcctgtct cctcttcgca ggcctctggc ctgccccagc ctcccgctac
     2401 ctgcccaaac cccatctgaa tgatttgtgg acaagcaaga agtttccacc gcatttctcc
     2461 ttgactttac taaaagttaa ataaacgtgc cactcgcccc ggctggctac aagctgcagg
     2521 gggtgccggg tcaccccagg ccttttcctg aatcccaggg tagacgcggt acactgaagg
     2581 ccaggttctc agcagcaggc ccagggatgt gggaccatgc ttgtcctggg ttcacaggct
     2641 cctttgtccc tcctggcagt gctcaggacc tcagactcct cagggtggct gcgaactgcc
     2701 ctcagccagc caggccccca ggcttctgag tgttagtcct gtccacacag gtagctcctg
     2761 tgccctgggg tcacctcttt cttctcctgg gcacctcagc ttggccagtt ccccggccct
     2821 gctcagctgc tcgggccttg ctgccttgtg agctcagcta ctcctgcccc aaacaagggc
     2881 agggtctgca gggcgctcga gacagaggag ctgccccacc aggacctgga cttggcacgg
     2941 gttgcgaggc tcccacagga gtaaggacga cttcccagcc ccgaagtagc cttcccagta
     3001 gaggcaggag gccaggctgg cctcagaggc atgatgctct tgggaacaaa tacaggaaag
     3061 ctggaggtca tggggcctgg gagagggaat cgctggggat gggaagccag gagagccctg
     3121 cctgccttcc ctgttagctt cggcctccct gggctcaggc gttagagccc caggctctgg
     3181 cacagagtag ccacccagga aatgcctgtg tgagtaggtg atggggtcag tacaaatggc
     3241 atgtgggtca ctagctggaa ggagttgggg caggaaggag tggcccggtg ggtacattgg
     3301 tgacagaaca aggccacgct gatccagggc ctctcagagc tcagcaggtc acagctacac
     3361 aggcctgtgt cctgagaagt gtggctgcca gagtggtgta gcggtcccag ggctctccat
     3421 aggcccaggc tgggggtgcc caagtcatag gccgccccct tcagttccaa gtaagaagac
     3481 tgtatcccac gaagcagcga cagtccctcc tacatctgcc atgaacaggc tttgctccta
     3541 gctctccacg accccctcct gtgcaccccg agcagcctcc acgggttggg gcgcctcaga
     3601 gccctccctt tctgatgcat cagagcagag tggggagcga ggcacagctg tccaggaagg
     3661 gccacggttg ctcggcaggc tcaggtcctc caggcagggc tggctgctgc cctcatcacc
     3721 ccccaagcag gcagtacagg ccccagggcc caggtgccgt ggttactggg aggaagaggc
     3781 catctgggtg gagatgaagg tctcgatgac gctgtggttg gatggcagca ggtggctctg
     3841 gccattgctg gagtctgagc tctggtacag caccaggctg ctggaggaca ctgcagaggc
     3901 aaacaaggct gctagccacc caccaggcac ccacacccac cccacctgcc tgtccctagg
     3961 ggtactcagg atggggaggc agggccacac ctcctggatc acagcagata acaggaaccc
     4021 caaagtcaca cctctaccct cggttcttca aagggagcct cccagccagg gtccacggcc
     4081 gcccatggag tggcctgagt acatcttagt gtgaacactg gagaagcccc ggtgagatgc
     4141 cgaggtaggt agttgtacgt gttggcttgg ctaggctgag tcaaacacta atctaggcgc
     4201 tgctgtgaat gcaggtgctt tgtagatgtg gttaatgcca caatcagttg gctttgagtg
     4261 aaggagatta ccctgaaaat atgggtgggc ctcctacatc agtggaaggc cgtaagagca
     4321 aaaaccggtt tcccagagaa ggaattctgc ctcaaggctg cagaattcac tccccagagc
     4381 tgccagcaac agatttcagg cctgccagcc ccccgcagac acgggccaag tccttcaaat
     4441 aaatctgttg gttctgtgtt cctggagaa
//
