LOCUS       NM_001365310            1926 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens proline and glutamate rich with coiled coil 1
            (PERCC1), mRNA.
ACCESSION   NM_001365310 XM_011522780
VERSION     NM_001365310.2
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 1926)
  AUTHORS   Marek-Yagel,D., Stenke,E., Pode-Shakked,B., Dunne,C., Crushell,E.,
            Bryce-Smith,A., McDermott,M., O'Sullivan,M.J., Veber,A.,
            Krishnamurthy,M., Wells,J.M., Anikster,Y. and Bourke,B.
  TITLE     Nonsense mutation in the novel PERCC1 gene as a genetic cause of
            congenital diarrhea and enteropathy
  JOURNAL   Hum Genet 142 (5), 691-696 (2023)
   PUBMED   36076104
  REMARK    GeneRIF: Nonsense mutation in the novel PERCC1 gene as a genetic
            cause of congenital diarrhea and enteropathy.
REFERENCE   2  (bases 1 to 1926)
  AUTHORS   Oz-Levi,D., Olender,T., Bar-Joseph,I., Zhu,Y., Marek-Yagel,D.,
            Barozzi,I., Osterwalder,M., Alkelai,A., Ruzzo,E.K., Han,Y.,
            Vos,E.S.M., Reznik-Wolf,H., Hartman,C., Shamir,R., Weiss,B.,
            Shapiro,R., Pode-Shakked,B., Tatarskyy,P., Milgrom,R., Schvimer,M.,
            Barshack,I., Imai,D.M., Coleman-Derr,D., Dickel,D.E., Nord,A.S.,
            Afzal,V., van Bueren,K.L., Barnes,R.M., Black,B.L., Mayhew,C.N.,
            Kuhar,M.F., Pitstick,A., Tekman,M., Stanescu,H.C., Wells,J.M.,
            Kleta,R., de Laat,W., Goldstein,D.B., Pras,E., Visel,A., Lancet,D.,
            Anikster,Y. and Pennacchio,L.A.
  TITLE     Noncoding deletions reveal a gene that is critical for intestinal
            function
  JOURNAL   Nature 571 (7763), 107-111 (2019)
   PUBMED   31217582
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL032819.32.
            
            On Aug 29, 2019 this sequence version replaced NM_001365310.1.
            
            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 alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2153427,
                              SAMEA2157511 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000640283.2/ ENSP00000492108.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AL032819.32        25218-25248
            32-1926             AL032819.32        26687-28581
FEATURES             Location/Qualifiers
     source          1..1926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1926
                     /gene="PERCC1"
                     /gene_synonym="DIAR11; gs104; ICR"
                     /note="proline and glutamate rich with coiled coil 1"
                     /db_xref="GeneID:105371045"
                     /db_xref="HGNC:HGNC:52293"
                     /db_xref="MIM:618656"
     exon            1..31
                     /gene="PERCC1"
                     /gene_synonym="DIAR11; gs104; ICR"
                     /inference="alignment:Splign:2.1.0"
     exon            32..1926
                     /gene="PERCC1"
                     /gene_synonym="DIAR11; gs104; ICR"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..882
                     /gene="PERCC1"
                     /gene_synonym="DIAR11; gs104; ICR"
                     /note="proline and glutamage-rich protein with a coiled
                     coil domain; protein LOC105371045"
                     /codon_start=1
                     /product="protein PERCC1"
                     /protein_id="NP_001352239.1"
                     /db_xref="CCDS:CCDS92081.1"
                     /db_xref="GeneID:105371045"
                     /db_xref="HGNC:HGNC:52293"
                     /db_xref="MIM:618656"
                     /translation="MAAGVIRPLCDFQLPLLRHHPFLPSDPEPPETSEEEEEEEEEEE
                     EEEGEGEGLGGCGRILPSSGRAEATEEAAPEGPGSPETPLQLLRFSELISDDIRRYFG
                     RKDKGQDPDACDVYADSRPPRSTARELYYADLVRLARGGSLEDEDTPEPRVPQGQVCR
                     PGLSGDRAQPLGPLAELFDYGLQQYWGSRAAAGWSLTLERKYGHITPMAQRKLPPSFW
                     KEPTPSPLGLLHPGTPDFSDLLASWSTEACPELPGRGTPALEGARPAEA"
ORIGIN      
        1 ctgtggagca agagctgtcg gccccggcca gccagcgcct gctgccccgg aggccccaga
       61 agcgtgggac gcgcggagat ggccgccggt gtgatccggc ccctgtgcga cttccagctg
      121 cccctgctgc gccaccaccc cttcctgccc tcagatccgg agcccccaga gacttcggag
      181 gaggaagagg aggaggagga ggaggaggag gaggaggagg gcgagggcga ggggctgggg
      241 ggctgcggcc ggatcctccc gagctcaggc cgggcagagg ccacggagga agcagccccc
      301 gagggtcccg gcagccccga gaccccgctg cagctgctac gcttttcaga gctcatcagc
      361 gacgacatcc ggcggtactt tggccgcaag gataaggggc aggacccaga tgcctgcgac
      421 gtctacgccg acagccgccc accccgcagc actgcccggg agctctacta tgcggacctg
      481 gtgcgcctgg cccgtggcgg gtccctggag gacgaggaca ccccggagcc cagggtaccc
      541 caagggcagg tgtgcaggcc gggcctcagc ggggacaggg cgcagcccct gggacccctg
      601 gccgagctct tcgactacgg gctgcagcag tactgggggt ccagggcagc ggccggctgg
      661 agcctgacgc tggagcggaa gtacggccac atcaccccca tggcccagag gaagctgccc
      721 ccatccttct ggaaggagcc gacccctagc cccctgggcc tgctgcaccc tggcacgccg
      781 gacttcagcg acctgctggc cagctggtca accgaggcct gtcctgagct gcccggcagg
      841 ggaaccccag ccctggaagg ggcacggcca gccgaggcct agcgaagcgc cggggtcaga
      901 gctagctggc ggcagcaggg ccacccctaa ggcactggac tctcctccca tcctcctggg
      961 aagagcctcc tccgtccctc gcggccacca cagggcaaac ccagaggtca ccagggctgg
     1021 gctgcagtgg gagcagcaag ggtggtgccc agacctggcc atgccctggc cttcagcccc
     1081 agcagagccc ctggaggggc acaggggccc ccagagccct gcccacagaa aagggaggct
     1141 tgagctcaag gggctccacc caccagggcc cccaggtgag gctgagggcc cagccccaga
     1201 gattccaggt gagcagcaag gggcggtgga ggacagagcc ccccgagcca gccctcccac
     1261 tgcctgccca tcccaccgaa cccctaggac taagcggccc ggaacctgtg gcccctcccc
     1321 tgagcccccg gcagcagacg gcagggccgg cgaccgcggg atgagcgagg gctttcttgg
     1381 agaggcagga agaggggccc actgcccgac cgagagagca aacaagggcc gtctcctccc
     1441 cagatgccgg aaggctcttc cactgcaggg ctgctgggct ggaggggctc tgaggcagag
     1501 ccagggagcc cgagtccagg gggcttcccc gggtcctcct cacaacccgg gcaggggcag
     1561 ctcacagcgg gtcctggcgg gggcaggcct aggtgcttct gcgcaggccc tagccaagcc
     1621 ccttccaccc cggggggctc tggcagccct agggggcctg gcagggaagg agagaggctg
     1681 ctaaagtgcc atggaaagca acagcctgaa gccgggctgg gtttgggcag gacaggaaga
     1741 gtcatggggg tcaagagact gggtccctcc aagcttgggc acccccgctg ccagggacct
     1801 cgccaccccg ctcagcccca caggccctgg gtaggctgtc tcccagcaca catcagggaa
     1861 cctcagctct aatgagtaca aagccagcac gtttatttct ggataaacag tgagggtgtg
     1921 agctgc
//
