LOCUS       NM_001011551            1636 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens C1GALT1 specific chaperone 1 (C1GALT1C1), transcript
            variant 2, mRNA.
ACCESSION   NM_001011551
VERSION     NM_001011551.3
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 1636)
  AUTHORS   Erger,F., Aryal,R.P., Reusch,B., Matsumoto,Y., Meyer,R., Zeng,J.,
            Knopp,C., Noel,M., Muerner,L., Wenzel,A., Kohl,S., Tschernoster,N.,
            Rappl,G., Rouvet,I., Schroder-Braunstein,J., Seibert,F.S.,
            Thiele,H., Hausler,M.G., Weber,L.T., Buttner-Herold,M.,
            Elbracht,M., Cummings,S.F., Altmuller,J., Habbig,S., Cummings,R.D.
            and Beck,B.B.
  TITLE     Germline C1GALT1C1 mutation causes a multisystem chaperonopathy
  JOURNAL   Proc Natl Acad Sci U S A 120 (22), e2211087120 (2023)
   PUBMED   37216524
REFERENCE   2  (bases 1 to 1636)
  AUTHORS   Ding,R., Hu,X., Hu,W., Du,Z., Huang,P., Wang,M., Sheng,J., Ma,Y.,
            Wang,A., Luan,X., Dong,M., Cao,Q., Zou,Y. and Hu,T.
  TITLE     Cosmc transfection decreases malignant behavior of Tn+ cells and
            enhances sensitivity to apoptosis when induced by Apo2L/TRAIL via
            alteration of O-glycan structure
  JOURNAL   Aging (Albany NY) 13 (19), 23393-23406 (2021)
   PUBMED   34644263
  REMARK    GeneRIF: Cosmc transfection decreases malignant behavior of Tn(+)
            cells and enhances sensitivity to apoptosis when induced by
            Apo2L/TRAIL via alteration of O-glycan structure.
REFERENCE   3  (bases 1 to 1636)
  AUTHORS   Shen,B., Tong,Y., Li,Z., Yan,H., Ye,F., Wang,Y. and XCai,X.
  TITLE     C1GALT1C1/COSMC is a novel prognostic biomarker for hepatocellular
            carcinoma
  JOURNAL   Clin Res Hepatol Gastroenterol 44 (3), 310-320 (2020)
   PUBMED   31471227
  REMARK    GeneRIF: C1GALT1C1/COSMC is a novel prognostic biomarker for
            hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 1636)
  AUTHORS   Sun,Q., Lan,J., Zhang,H., Zhou,N., Liang,Y. and Liu,X.
  TITLE     MicroRNA-196b targets COSMC in pediatric IgA nephropathy
  JOURNAL   Mol Med Rep 21 (5), 2260-2266 (2020)
   PUBMED   32186752
  REMARK    GeneRIF: MicroRNA196b targets COSMC in pediatric IgA nephropathy.
REFERENCE   5  (bases 1 to 1636)
  AUTHORS   Gao,T., Du,T., Hu,X., Dong,X., Li,L., Wang,Y., Liu,J., Liu,L.,
            Gu,T. and Wen,T.
  TITLE     Cosmc overexpression enhances malignancies in human colon cancer
  JOURNAL   J Cell Mol Med 24 (1), 362-370 (2020)
   PUBMED   31633299
  REMARK    GeneRIF: Cosmc overexpression enhances malignancies in human colon
            cancer.
REFERENCE   6  (bases 1 to 1636)
  AUTHORS   Narimatsu,Y., Ikehara,Y., Iwasaki,H., Nonomura,C., Sato,T.,
            Nakanishi,H. and Narimatsu,H.
  TITLE     Immunocytochemical analysis for intracellular dynamics of C1GalT
            associated with molecular chaperone, Cosmc
  JOURNAL   Biochem Biophys Res Commun 366 (1), 199-205 (2008)
   PUBMED   18061573
  REMARK    GeneRIF: These results suggest that the intracellular dynamics of
            C1GalT is controlled by its specific molecular chaperon, Cosmc, in
            association with core 1 synthase activity.
REFERENCE   7  (bases 1 to 1636)
  AUTHORS   Li,G.S., Zhang,H., Lv,J.C., Shen,Y. and Wang,H.Y.
  TITLE     Variants of C1GALT1 gene are associated with the genetic
            susceptibility to IgA nephropathy
  JOURNAL   Kidney Int 71 (5), 448-453 (2007)
   PUBMED   17228361
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1636)
  AUTHORS   Ju,T. and Cummings,R.D.
  TITLE     Protein glycosylation: chaperone mutation in Tn syndrome
  JOURNAL   Nature 437 (7063), 1252 (2005)
   PUBMED   16251947
  REMARK    GeneRIF: Tn syndrome is associated with a somatic mutation in
            Cosmc, a gene on the X chromosome that encodes a molecular
            'chaperone' that is required for the proper folding and hence full
            activity of T-synthase
REFERENCE   9  (bases 1 to 1636)
  AUTHORS   Ju,T. and Cummings,R.D.
  TITLE     A unique molecular chaperone Cosmc required for activity of the
            mammalian core 1 beta 3-galactosyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16613-16618 (2002)
   PUBMED   12464682
REFERENCE   10 (bases 1 to 1636)
  AUTHORS   Kudo,T., Iwai,T., Kubota,T., Iwasaki,H., Takayma,Y., Hiruma,T.,
            Inaba,N., Zhang,Y., Gotoh,M., Togayachi,A. and Narimatsu,H.
  TITLE     Molecular cloning and characterization of a novel
            UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase
            (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan
  JOURNAL   J Biol Chem 277 (49), 47724-47731 (2002)
   PUBMED   12361956
  REMARK    GeneRIF: molecular cloning and characterization; C1Gal-T2 is the
            second candidate for core 1 synthase that plays an important role
            in synthesizing O-glycans in digestive organs
            Erratum:[J Biol Chem. 2006 Aug 25;281(34):24999]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ238398.1, BC050441.1,
            AY358642.1 and BM971206.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001011551.2.
            
            Summary: This gene encodes a type II transmembrane protein that is
            similar to the core 1 beta1,3-galactosyltransferase 1, which
            catalyzes the synthesis of the core-1 structure, also known as
            Thomsen-Friedenreich antigen, on O-linked glycans. This gene
            product lacks the galactosyltransferase activity itself, but
            instead acts as a molecular chaperone required for the folding,
            stability and full activity of the core 1
            beta1,3-galactosyltransferase 1. Mutations in this gene have been
            associated with Tn syndrome. Alternatively spliced transcript
            variants encoding the same protein have been identified. [provided
            by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR5189658.135181.1,
                                           SRR1803616.143900.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304661.6/ ENSP00000304364.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AJ238398.1         97-166
            71-1362             BC050441.1         57-1348
            1363-1634           AY358642.1         1300-1571
            1635-1636           BM971206.1         12-13               c
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..1636
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="C1GALT1 specific chaperone 1"
                     /db_xref="GeneID:29071"
                     /db_xref="HGNC:HGNC:24338"
                     /db_xref="MIM:300611"
     exon            1..138
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /inference="alignment:Splign:2.1.0"
     exon            139..1636
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..1100
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="beta 1,3-galactosyltransferase 2; C38H2-like
                     protein 1; core 1 beta3-galactosyltransferase-specific
                     molecular chaperone; core 1 beta3-Gal-T2; core 1
                     beta1,3-galactosyltransferase 2; core 1
                     beta3-Gal-T-specific molecular chaperone"
                     /codon_start=1
                     /product="C1GALT1-specific chaperone 1"
                     /protein_id="NP_001011551.1"
                     /db_xref="CCDS:CCDS14602.1"
                     /db_xref="GeneID:29071"
                     /db_xref="HGNC:HGNC:24338"
                     /db_xref="MIM:300611"
                     /translation="MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHL
                     QAPNKEDILKISEDERMELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSS
                     ENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLK
                     KDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKIS
                     EDKQLAVCLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAV
                     TFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND"
     regulatory      1235..1240
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTAAA"
     polyA_site      1260
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="major polyA site"
     regulatory      1341..1346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: AATAAA"
     regulatory      1359..1364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTATA"
     polyA_site      1362
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
     polyA_site      1380
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
     regulatory      1494..1499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTAAA"
     polyA_site      1511
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="major polyA site"
     regulatory      1614..1619
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
                     /note="hexamer: ATTAAA"
     polyA_site      1636
                     /gene="C1GALT1C1"
                     /gene_synonym="AHUS8; C1GALT2; C38H2-L1; COSMC; HSPC067;
                     MST143; TNPS"
ORIGIN      
        1 acctttagcg agaccaacga gagaacaccg cctgcagcta gaacagcctg gtcaggagcg
       61 taacggagtg gtgcgccaac gtgagaggaa acccgtgcgc ggctgcgctt tcctgtcccc
      121 aagccgttct agacgcggga aaaatgcttt ctgaaagcag ctcctttttg aagggtgtga
      181 tgcttggaag cattttctgt gctttgatca ctatgctagg acacattagg attggtcatg
      241 gaaatagaat gcaccaccat gagcatcatc acctacaagc tcctaacaaa gaagatatct
      301 tgaaaatttc agaggatgag cgcatggagc tcagtaagag ctttcgagta tactgtatta
      361 tccttgtaaa acccaaagat gtgagtcttt gggctgcagt aaaggagact tggaccaaac
      421 actgtgacaa agcagagttc ttcagttctg aaaatgttaa agtgtttgag tcaattaata
      481 tggacacaaa tgacatgtgg ttaatgatga gaaaagctta caaatacgcc tttgataagt
      541 atagagacca atacaactgg ttcttccttg cacgccccac tacgtttgct atcattgaaa
      601 acctaaagta ttttttgtta aaaaaggatc catcacagcc tttctatcta ggccacacta
      661 taaaatctgg agaccttgaa tatgtgggta tggaaggagg aattgtctta agtgtagaat
      721 caatgaaaag acttaacagc cttctcaata tcccagaaaa gtgtcctgaa cagggaggga
      781 tgatttggaa gatatctgaa gataaacagc tagcagtttg cctgaaatat gctggagtat
      841 ttgcagaaaa tgcagaagat gctgatggaa aagatgtatt taataccaaa tctgttgggc
      901 tttctattaa agaggcaatg acttatcacc ccaaccaggt agtagaaggc tgttgttcag
      961 atatggctgt tacttttaat ggactgactc caaatcagat gcatgtgatg atgtatgggg
     1021 tataccgcct tagggcattt gggcatattt tcaatgatgc attggttttc ttacctccaa
     1081 atggttctga caatgactga gaagtggtag aaaagcgtga atatgatctt tgtataggac
     1141 gtgtgttgtc attatttgta gtagtaacta catatccaat acagctgtat gtttcttttt
     1201 cttttctaat ttggtggcac tggtataacc acacattaaa gtcagtagta catttttaaa
     1261 tgagggtggt ttttttcttt aaaacacatg aacattgtaa atgtgttgga aagaagtgtt
     1321 ttaagaataa taattttgca aataaactat taataaatat tatatgtgat aaattctaaa
     1381 ttatgaacat tagaaatctg tggggcacat atttttgctg attggttaaa aaattttaac
     1441 aggtctttag cgttctaaga tatgcaaatg atatctctag ttgtgaattt gtgattaaag
     1501 taaaactttt agctgtgtgt tccctttact tctaatactg atttatgttc taagcctccc
     1561 caagttccaa tggatttgcc ttctcaaaat gtacaactaa gcaactaaag aaaattaaag
     1621 tgaaagttga aaaata
//
