LOCUS       NM_001170633            4483 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens chromosome 12 open reading frame 56 (C12orf56),
            transcript variant 1, mRNA.
ACCESSION   NM_001170633
VERSION     NM_001170633.2
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 4483)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC135279.3 and AC012158.32.
            
            On May 17, 2019 this sequence version replaced NM_001170633.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 transcript alignments and orthologous data,
            including macaque AB168147.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2149178
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000543942.7/ ENSP00000446101.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-445               AC135279.3         94942-95386
            446-608             AC135279.3         132644-132806
            609-681             AC135279.3         154668-154740
            682-1087            AC012158.32        6885-7290
            1088-1161           AC012158.32        13113-13186
            1162-1306           AC012158.32        22086-22230
            1307-1413           AC012158.32        39805-39911
            1414-1503           AC012158.32        41112-41201
            1504-1627           AC012158.32        48062-48185
            1628-1702           AC012158.32        50493-50567
            1703-1777           AC012158.32        50890-50964
            1778-1956           AC012158.32        55151-55329
            1957-4483           AC012158.32        58577-61103
FEATURES             Location/Qualifiers
     source          1..4483
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.2"
     gene            1..4483
                     /gene="C12orf56"
                     /note="chromosome 12 open reading frame 56"
                     /db_xref="GeneID:115749"
                     /db_xref="HGNC:HGNC:26967"
     exon            1..445
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     CDS             194..2062
                     /gene="C12orf56"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C12orf56"
                     /codon_start=1
                     /product="uncharacterized protein C12orf56 isoform 1"
                     /protein_id="NP_001164104.1"
                     /db_xref="CCDS:CCDS61182.1"
                     /db_xref="GeneID:115749"
                     /db_xref="HGNC:HGNC:26967"
                     /translation="MASPLPSGFPARRNSRLDVFLRRHLPPEVYDAVRAYEPCIVVSN
                     SENHILKYVVLSDRLVYLTENPPKSIRRVVALRDVVAIDLIDDYPEFLSSPDREISQH
                     IRIIYSSTVLKKECKKSNSVRKFLFPFHHTKANNKKVKEEKNGLAFWRSKESRSLKES
                     PLRDQQESSTPSKDSTLCPRPGLKKLSLHGQGAFRPLPSPSRRSSQSAPTTGKAVSEP
                     SCTTNTKEPQGLPDHNSISEIPFKCNGNGNEFYLGNSLLDSPSQSNSNLEKKESELHL
                     YVISTTSSIFLHLKSSWNNYIIKATLLQDPFYASEFSPAIGSQKPYRSEEKIKHFSQL
                     KSELFLKDNSLRRILSLLMELKVAAQKNFILKRLFWKTSDLFYFIVNKLHEYLPESRD
                     KNALQNQSQRVDELVACIEIIQTLVLMFRETETESSRLNTLAAKKGALFNLLVILISE
                     PQIPKSCPVFDIQLVADSALVRMSFDAELQKLILEYTNTATALLYEILLVFQQGNLGL
                     GSTKFAISWIMSFLQSCPPIITFVASIVKQVVRGLSASFQLLSPCQAVLLYQQFYILK
                     SCLRHSRTLAEYIRNNYREEFRYFIHMPALQKRLPLCYPITQPTIQLFHEVLKLVE"
     exon            446..608
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            609..681
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            682..1087
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1161
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1306
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1413
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1503
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1627
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1628..1702
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1777
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1956
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1957..4483
                     /gene="C12orf56"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2242..2247
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf56"
                     /note="hexamer: AATAAA"
     polyA_site      2262
                     /gene="C12orf56"
                     /note="major polyA site"
     regulatory      4456..4461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf56"
                     /note="hexamer: AATAAT"
     polyA_site      4483
                     /gene="C12orf56"
ORIGIN      
        1 agggctgggg agggcgctcc agggaagccg acctagcgtc gattcctgca gttgcggccc
       61 gggtccccgc gcctggagag gaggcgacgc gtggccggcg gctttgtggc gcgcgggttc
      121 cagcgcgggg gcggggagag ggcgagctga gggcctcgag tcccagcact ccgccacgct
      181 gcgggcgccg ggcatggcca gccccttgcc gtccggcttc cccgcgcgca ggaacagccg
      241 cctggatgtg ttcctgcggc ggcatctgcc gcccgaggtc tacgacgcgg tccgcgccta
      301 cgagccatgc atcgtggtgt ccaactctga gaaccacatc ctcaagtatg tggtgctaag
      361 cgaccggctc gtctacctaa ccgagaaccc gcccaagtcc atccggcggg tagtggctct
      421 gcgggacgtc gtggccattg acctgattga tgattacccg gaatttttga gttcgccaga
      481 tagagaaatc agccaacaca ttcgtatcat ctattcttca accgttttga aaaaagagtg
      541 taaaaagtca aacagtgtca ggaaattcct atttccattt catcatacta aagctaacaa
      601 caagaaagtc aaggaagaaa agaacggcct tgccttttgg agaagcaaag agtccagaag
      661 tctgaaagaa tctcctctca gggaccagca ggagagcagt acaccatcca aggactcaac
      721 tctctgtcct cgtccaggcc tcaaaaagct gtcccttcat ggccaaggtg cctttcgacc
      781 cctaccttcc ccctccagga ggagctctca gtctgcacca acaactggca aggctgtcag
      841 cgagccatct tgcacaacaa acacaaaaga accccaggga cttccagatc acaactccat
      901 aagtgaaatt cctttcaagt gcaatgggaa tggaaatgag ttttacttag gaaattccct
      961 cttagattcc ccttcacaga gcaactcaaa tttagagaaa aaggagtcag aacttcattt
     1021 gtatgttatt tccacaacct catcaatatt tctgcactta aaaagttcat ggaacaatta
     1081 tattataaaa gctactcttt tacaagatcc cttctatgct agtgagttca gtcctgctat
     1141 tggaagtcaa aagccatata ggtctgagga gaaaattaag cacttcagtc aacttaaatc
     1201 tgaacttttt cttaaagaca attctttgag gaggatactt tctttactta tggaacttaa
     1261 agtagcagcc cagaaaaact tcattctgaa aaggcttttc tggaagacca gtgacctttt
     1321 ctatttcata gtaaacaaac ttcatgagta cttgccggag tctagggata agaatgcact
     1381 acaaaatcaa agccaaaggg ttgatgagct ggtggcatgc attgaaatta tacagaccct
     1441 agtattgatg ttcagagaaa cagaaaccga gtcatcacgc ctgaacacat tggcagctaa
     1501 gaagggagca ctatttaatc tcttggtaat tttaattagt gagcctcaga ttccaaaatc
     1561 ttgtcctgtg tttgatatcc agttggtggc tgattcagct ttagtcagaa tgtcttttga
     1621 cgctgagtta cagaagctta ttctggagta tacaaatact gctacagcac ttttatatga
     1681 gatacttctg gtctttcagc agggaaatct cggattggga tccacaaagt ttgctattag
     1741 ctggataatg tcctttctac aaagctgtcc tcccatcatt acttttgtgg ccagtattgt
     1801 gaaacaagtg gtgaggggtc tttcagcttc atttcagctg ctaagtccct gccaagcagt
     1861 tctgttgtac cagcaatttt acatcctcaa gagctgtctg cggcacagca ggactctagc
     1921 tgagtatatt aggaataact acagagaaga attcaggtac tttattcaca tgccagcctt
     1981 gcagaaaagg ctcccattgt gttaccccat cactcaacct accattcaac tttttcatga
     2041 agttctgaaa ttggttgaat agaaacaaac aatgtacgca atgttaataa gagtataaaa
     2101 tgttaatcaa gagtcaactt gatattcacg agaaacattt ttttatttgt ttaatatctg
     2161 gctatctctg agtcctataa acaaagattt taattgaatg ttccatcaat acctctctat
     2221 gagaagttta aaattttaaa aaataaattt gatttattat aagtgtgcaa agatctttat
     2281 gccattgggc aaaagagcca tttctttatt agagtagttc ttcaaactca ctcttgccac
     2341 aaaataaacg actatccatc aagacacagg aaaaaggaat gcagggattt aggaaagctg
     2401 tactcacttc tcttccacct tagcagcaaa agcaagaagg ttctcaaaat tctcctgata
     2461 atagttctgt tgcttaagca ataggatgcc ggggagtgtg ggggcctgag gcatgggcat
     2521 tcaagttctt ctcaaggtgt tttatcttct cagcttgggc acagtgttct cggtgaaacc
     2581 atgccaggca caggagcatg ctcttcaccc gattctgtac tcagagccat ccaaaaacca
     2641 ttatttcgac taggttcttg gagtccacta tgtccaccac cagcagggcc tggcgcatcc
     2701 acgccacttc tggaattaca gcttggtctg ggcctaaggt cactcactca agatctcatc
     2761 cgccagccac gcctccaggt agaacaccaa agggtctctc agttcctgca ccagaaacca
     2821 ccaaggccgg aggccagagt tttaaaatct gctacaaaga aacctacatc cattctgaca
     2881 tacataaagt ggtgctaaac agtagcgttt ctccagaaaa aaaggttcta agacaaaaat
     2941 ctatcaaggg aacagaagcc tatggagagt gaacacagaa aatataatct ggtgagtttc
     3001 actggtgtaa taatggtgag tggtgtgaag ccacgaaaca tcctgagata aactgttgtg
     3061 gggagtataa gctacagagt gattatttgg gaaatgctga gcaataggat gacaccctcc
     3121 tcctccacct atacaaattc tagtgacaaa agtattcctg gaagaatgag cagaacacag
     3181 gcatagctgt atagaatgtc acttcctctt ttatcataga gaaagaagct tggacttcaa
     3241 caaaattaag tgcatggtgc cactctgttt caggcatctg tgggctaatt tgtgtagtcc
     3301 catagagtct ctatgaaaga taaattgtct acgagcagtt atggctctcc cacaaccatt
     3361 taaaaacttg tctttactat attttatgcc ataaactaat ttaattccac aaatacttaa
     3421 ctttggcatc accgtgaggt gttgaatttg gacttctaag aacataggaa ctggactctc
     3481 cattcaactt attatgactt gagggaggat cagagaaaaa tctacttcca aagaaagagt
     3541 tcctaagcca gattcgcctg tgttgggcag tggagataat tactaggaca ttttattcca
     3601 ggttctgaca gagccaaatg accagctatt tgacttcaag caagtcaggc cccctttcca
     3661 ggccacatct gtttcttcct gggcttcctc tgctaggtgg aagggtggga ctagatgttc
     3721 tccaagttct cttccagctc ttacattctc tgcctgtgac aagacattta acactctgaa
     3781 atggagtagt gtgtttctct gctatctcgg ctcagtggat gattttgcac taacttcaag
     3841 taatcctcct ttctttttac ccaaagtttc cctttcagct gtcaccagcc atcaccccat
     3901 aaagtgtcca agtcttttcc ttcattaccc aatgaggagt ccacattttc taccctcaat
     3961 tttgggggca gagagagagg agcaaaatgg tgtttttgag tgtcctggct gttagatggg
     4021 ggattatttt caagagacgg tcaatcaaag gaatatgaaa agattcttgg aacataggca
     4081 agtattacct caaaccggac aaagaatgta ctgatgaacc cgcaggatga caacgagagg
     4141 atcaactcag ctctgcctta gcttctccgc agtgccctgg atctgggcta gtagtcatgc
     4201 aggctctagt gagggcttgg ggtttctctc ccacatgatt tctgcatgcc tctcccactc
     4261 ctctctttgc cctgggatct tactttaatc tctgggagca aaatctctgt caaaatatat
     4321 ctgaatcttt ttatgtgggg ctaaagtcag tggttttttg gagagttaat ggttgaatat
     4381 ttgtcaccct gattttcttc agtctactct gtataactca tgtctattca tttgcacagt
     4441 ctgggatcag aaactaataa ttcgaaggat tgtccaacca cta
//
