LOCUS       NM_138425                561 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens chromosome 12 open reading frame 57 (C12orf57),
            transcript variant 1, mRNA.
ACCESSION   NM_138425
VERSION     NM_138425.4
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 561)
  AUTHORS   Nerakh,G. and Vasikarla,M.
  TITLE     A novel pathogenic compound heterozygous variant in C12orf57 gene
            in a child with Temtamy syndrome presenting with overlapping
            phenotypic features of Kabuki-like syndrome
  JOURNAL   Brain Dev 45 (9), 512-516 (2023)
   PUBMED   37451886
REFERENCE   2  (bases 1 to 561)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 561)
  AUTHORS   Alrakaf,L., Al-Owain,M.A., Busehail,M., Alotaibi,M.A., Monies,D.,
            Aldhalaan,H.M., Alhashem,A., Al-Hassnan,Z.N., Rahbeeni,Z.A.,
            Murshedi,F.A., Ani,N.A., Al-Maawali,A., Ibrahim,N.A.,
            Abdulwahab,F.M., Alsagob,M., Hashem,M.O., Ramadan,W.,
            Abouelhoda,M., Meyer,B.F., Kaya,N., Maddirevula,S. and
            Alkuraya,F.S.
  TITLE     Further delineation of Temtamy syndrome of corpus callosum and
            ocular abnormalities
  JOURNAL   Am J Med Genet A 176 (3), 715-721 (2018)
   PUBMED   29383837
REFERENCE   4  (bases 1 to 561)
  AUTHORS   Platzer,K., Huning,I., Obieglo,C., Schwarzmayr,T., Gabriel,R.,
            Strom,T.M., Gillessen-Kaesbach,G. and Kaiser,F.J.
  TITLE     Exome sequencing identifies compound heterozygous mutations in
            C12orf57 in two siblings with severe intellectual disability,
            hypoplasia of the corpus callosum, chorioretinal coloboma, and
            intractable seizures
  JOURNAL   Am J Med Genet A 164A (8), 1976-1980 (2014)
   PUBMED   24798461
  REMARK    GeneRIF: Exome sequencing identifies compound heterozygous
            mutations in C12orf57 in two siblings with severe intellectual
            disability, hypoplasia of the corpus callosum, chorioretinal
            coloboma, and intractable seizures.
            Review article
REFERENCE   5  (bases 1 to 561)
  AUTHORS   Salih,M.A., Tzschach,A., Oystreck,D.T., Hassan,H.H., AlDrees,A.,
            Elmalik,S.A., El Khashab,H.Y., Wienker,T.F., Abu-Amero,K.K. and
            Bosley,T.M.
  TITLE     A newly recognized autosomal recessive syndrome affecting
            neurologic function and vision
  JOURNAL   Am J Med Genet A 161A (6), 1207-1213 (2013)
   PUBMED   23633300
REFERENCE   6  (bases 1 to 561)
  AUTHORS   Chapuis,J., Hot,D., Hansmannel,F., Kerdraon,O., Ferreira,S.,
            Hubans,C., Maurage,C.A., Huot,L., Bensemain,F., Laumet,G.,
            Ayral,A.M., Fievet,N., Hauw,J.J., DeKosky,S.T., Lemoine,Y.,
            Iwatsubo,T., Wavrant-Devrieze,F., Dartigues,J.F., Tzourio,C.,
            Buee,L., Pasquier,F., Berr,C., Mann,D., Lendon,C., Alperovitch,A.,
            Kamboh,M.I., Amouyel,P. and Lambert,J.C.
  TITLE     Transcriptomic and genetic studies identify IL-33 as a candidate
            gene for Alzheimer's disease
  JOURNAL   Mol Psychiatry 14 (11), 1004-1016 (2009)
   PUBMED   19204726
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 561)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 561)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 561)
  AUTHORS   Ansari-Lari,M.A., Oeltjen,J.C., Schwartz,S., Zhang,Z., Muzny,D.M.,
            Lu,J., Gorrell,J.H., Chinault,A.C., Belmont,J.W., Miller,W. and
            Gibbs,R.A.
  TITLE     Comparative sequence analysis of a gene-rich cluster at human
            chromosome 12p13 and its syntenic region in mouse chromosome 6
  JOURNAL   Genome Res 8 (1), 29-40 (1998)
   PUBMED   9445485
REFERENCE   10 (bases 1 to 561)
  AUTHORS   Ansari-Lari,M.A., Shen,Y., Muzny,D.M., Lee,W. and Gibbs,R.A.
  TITLE     Large-scale sequencing in human chromosome 12p13: experimental and
            computational gene structure determination
  JOURNAL   Genome Res 7 (3), 268-280 (1997)
   PUBMED   9074930
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM781587.1 and BC009925.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_138425.3.
            
            Summary: This gene is ubiquitously expressed in human tissues. It
            is required for development of the human corpus callosum. Mutations
            in this gene are associated with Temtamy syndrome (TEMTYS).
            Multiple alternatively spliced transcript variants have been found
            for this gene. [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (1) is a predominant transcript
            and encodes the longest isoform (1). Variants 1 and 2 encode the
            same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.187341.1,
                                           SRR1163657.231921.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229281.6/ ENSP00000229281.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                BM781587.1         206-223
            19-561              BC009925.2         1-543
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..561
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /note="chromosome 12 open reading frame 57"
                     /db_xref="GeneID:113246"
                     /db_xref="HGNC:HGNC:29521"
                     /db_xref="MIM:615140"
     exon            1..152
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..481
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     likely ortholog of mouse gene rich cluster, C10; protein
                     C10; gene rich cluster C10"
                     /codon_start=1
                     /product="protein C10 isoform 1"
                     /protein_id="NP_612434.1"
                     /db_xref="CCDS:CCDS8571.1"
                     /db_xref="GeneID:113246"
                     /db_xref="HGNC:HGNC:29521"
                     /db_xref="MIM:615140"
                     /translation="MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNAC
                     NDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDPEIASLSGKL
                     KALFLPPMTLPPHGPAAGGSVAAS"
     exon            153..329
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /inference="alignment:Splign:2.1.0"
     exon            330..561
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      541..546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /note="hexamer: AATAAA"
     polyA_site      561
                     /gene="C12orf57"
                     /gene_synonym="C10; GRCC10"
                     /note="major polyA site"
ORIGIN      
        1 cctttccgct cccaggggcg ttgggaacgg ttgtaggacg tggctcttta ttcgtgagtt
       61 ttccatttac ctccgctgaa cctagagctt cagacgccct atggcgtccg cctcgaccca
      121 accggcggcc ttgagcgctg agcaagcaaa ggtggtcctc gcggaggtga tccaggcgtt
      181 ctccgccccg gagaatgcag tgcgcatgga cgaggctcgg gataacgcct gcaacgacat
      241 gggtaagatg ctgcaattcg tgctgcccgt ggccacgcag atccagcagg aggttatcaa
      301 agcctatggc ttcagctgcg acggggaagg tgtccttaag tttgctcgct tggtcaagtc
      361 ctacgaagcc caggatcctg agatcgccag cctgtcaggc aagctgaagg cgctgtttct
      421 gccgcccatg accctgccac cccatgggcc tgctgctggt ggcagcgtgg ccgcctcctg
      481 agagttggcc ctcccttgtg ccactgccag gggaggaaag gccttgatgt tccagacaat
      541 aataaatgcg cctgtgactt a
//
