LOCUS       NM_001382585            1304 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens glycoprotein alpha-galactosyltransferase 1 (inactive)
            (GGTA1), transcript variant 2, mRNA.
ACCESSION   NM_001382585 NR_045211
VERSION     NM_001382585.1
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 1304)
  AUTHORS   Galili,U.
  TITLE     Significance of the evolutionary alpha1,3-galactosyltransferase
            (GGTA1) gene inactivation in preventing extinction of apes and old
            world monkeys
  JOURNAL   J Mol Evol 80 (1), 1-9 (2015)
   PUBMED   25315716
  REMARK    Review article
REFERENCE   2  (bases 1 to 1304)
  AUTHORS   Burlak,C., Bern,M., Brito,A.E., Isailovic,D., Wang,Z.Y.,
            Estrada,J.L., Li,P. and Tector,A.J.
  TITLE     N-linked glycan profiling of GGTA1/CMAH knockout pigs identifies
            new potential carbohydrate xenoantigens
  JOURNAL   Xenotransplantation 20 (5), 277-291 (2013)
   PUBMED   24033743
  REMARK    GeneRIF: GGTA1/CMAH knockout pig samples had increased relative
            amounts of high-mannose, incomplete, and xylosylated N-linked
            glycans
REFERENCE   3  (bases 1 to 1304)
  AUTHORS   Heisterkamp,N., Groffen,J., Warburton,D. and Sneddon,T.P.
  TITLE     The human gamma-glutamyltransferase gene family
  JOURNAL   Hum Genet 123 (4), 321-332 (2008)
   PUBMED   18357469
REFERENCE   4  (bases 1 to 1304)
  AUTHORS   Koike,C., Uddin,M., Wildman,D.E., Gray,E.A., Trucco,M., Starzl,T.E.
            and Goodman,M.
  TITLE     Functionally important glycosyltransferase gain and loss during
            catarrhine primate emergence
  JOURNAL   Proc Natl Acad Sci U S A 104 (2), 559-564 (2007)
   PUBMED   17194757
REFERENCE   5  (bases 1 to 1304)
  AUTHORS   Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
            Kim,J.M., Lee,D.S. and Kim,N.S.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   6  (bases 1 to 1304)
  AUTHORS   Lanteri,M., Giordanengo,V., Vidal,F., Gaudray,P. and Lefebvre,J.C.
  TITLE     A complete alpha1,3-galactosyltransferase gene is present in the
            human genome and partially transcribed
  JOURNAL   Glycobiology 12 (12), 785-792 (2002)
   PUBMED   12499400
  REMARK    GeneRIF: A transcription of the complete gene sequence for this
            enzyme
REFERENCE   7  (bases 1 to 1304)
  AUTHORS   Koike,C., Fung,J.J., Geller,D.A., Kannagi,R., Libert,T., Luppi,P.,
            Nakashima,I., Profozich,J., Rudert,W., Sharma,S.B., Starzl,T.E. and
            Trucco,M.
  TITLE     Molecular basis of evolutionary loss of the alpha
            1,3-galactosyltransferase gene in higher primates
  JOURNAL   J Biol Chem 277 (12), 10114-10120 (2002)
   PUBMED   11773054
  REMARK    GeneRIF: Molecular basis of evolutionary loss of the alpha
            1,3-galactosyltransferase gene
REFERENCE   8  (bases 1 to 1304)
  AUTHORS   Shaper,N.L., Lin,S.P., Joziasse,D.H., Kim,D.Y. and Yang-Feng,T.L.
  TITLE     Assignment of two human alpha-1,3-galactosyltransferase gene
            sequences (GGTA1 and GGTA1P) to chromosomes 9q33-q34 and 12q14-q15
  JOURNAL   Genomics 12 (3), 613-615 (1992)
   PUBMED   1559713
  REMARK    Erratum:[Genomics 1992 Jun;13(2):493]
REFERENCE   9  (bases 1 to 1304)
  AUTHORS   Larsen,R.D., Rivera-Marrero,C.A., Ernst,L.K., Cummings,R.D. and
            Lowe,J.B.
  TITLE     Frameshift and nonsense mutations in a human genomic sequence
            homologous to a murine UDP-Gal:beta-D-Gal(1,4)-D-GlcNAc
            alpha(1,3)-galactosyltransferase cDNA
  JOURNAL   J Biol Chem 265 (12), 7055-7061 (1990)
   PUBMED   2108966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359644.10.
            
            On May 15, 2020 this sequence version replaced NR_045211.1.
            
            Summary: Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme
            present in most mammals except man, apes, and Old World monkeys.
            This gene is thought to encode a truncated, non-enzymatic form of
            the GGTA1 protein that lacks the C-terminal catalytic domain.
            Aberrant expression of the GGTA1 protein in man can lead to
            autoimmune diseases and sometimes germ cell tumors. [provided by
            RefSeq, May 2020].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045756.1, SRR14038195.1609685.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000481799.6/ ENSP00000502991.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-195               AL359644.10        147906-148100       c
            196-284             AL359644.10        116098-116186       c
            285-320             AL359644.10        111548-111583       c
            321-386             AL359644.10        109507-109572       c
            387-502             AL359644.10        108359-108474       c
            503-1304            AL359644.10        103295-104096       c
FEATURES             Location/Qualifiers
     source          1..1304
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..1304
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /note="glycoprotein alpha-galactosyltransferase 1
                     (inactive)"
                     /db_xref="GeneID:2681"
                     /db_xref="HGNC:HGNC:4253"
                     /db_xref="MIM:104175"
     exon            1..195
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /inference="alignment:Splign:2.1.0"
     exon            196..284
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..507
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /note="glycoprotein, alpha-galactosyltransferase 1;
                     glycoprotein alpha-galactosyltransferase 1, pseudogene"
                     /codon_start=1
                     /product="inactive N-acetyllactosaminide
                     alpha-1,3-galactosyltransferase"
                     /protein_id="NP_001369514.1"
                     /db_xref="CCDS:CCDS94476.1"
                     /db_xref="GeneID:2681"
                     /db_xref="HGNC:HGNC:4253"
                     /db_xref="MIM:104175"
                     /translation="MNVKGKVILSMLVVSTVIIVFWEFINSTEGSFLWIYHSKNPEVD
                     DSSAQKGWWFLSWFNNGIHNYQQGEEDIDKEKGREETKGRKMTQQSFGYGTGLIQT"
     exon            285..320
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /inference="alignment:Splign:2.1.0"
     exon            321..386
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /inference="alignment:Splign:2.1.0"
     exon            387..502
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /inference="alignment:Splign:2.1.0"
     exon            503..1304
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1279..1284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /note="hexamer: AATAAA"
     polyA_site      1304
                     /gene="GGTA1"
                     /gene_synonym="a1/3GTP; GGTA; GGTA1P; GLYT2"
                     /note="major polyA site"
ORIGIN      
        1 acccgctgcg ctctgcccag agcagaagcc cggccggccg gcccacgggc gggaggacgc
       61 gcctccgctc gggcggaggc ggcgcggtgg ctgatcagag cgcgtagggc ttcgccgggg
      121 ccgggagctg ggcgcggtcc tgctcagccc agctcaccgc gcgccggccc tcggcgccct
      181 ggttctgcgg atcaggagaa aataatgaat gtcaaaggaa aagtaattct gtcaatgctg
      241 gttgtctcaa ctgtgatcat tgtgttttgg gaatttatca acagcacaga aggctctttc
      301 ttgtggatat atcactcaaa aaacccagaa gttgatgaca gcagtgctca gaagggctgg
      361 tggtttctga gctggtttaa caatgggatc cacaattatc aacaagggga agaagacata
      421 gacaaagaaa aaggaagaga ggagaccaaa ggaaggaaaa tgacacaaca gagcttcggc
      481 tatgggactg gtttaatcca aacttgaagg aatccgaata actaaactgg actctggttt
      541 tctgactcag tccttctaga agacctggac tgagagatca tgcggttaag gagtgtgtaa
      601 caggcggacc acctgttggg actgcgagat tctcaagggg aaggactggg tctcatttct
      661 cccatctcag cgcttagcag gatgacctgg tatagagcag ggaactggga aatgtgggtc
      721 aggggatcag acactccagt tgggtctttt atataaatta aatggcaaaa ggctccatac
      781 ccttctcctt ctttcctacc ctccacttta tctgcaaaat gggaatgatg ataacaccca
      841 cttcatagaa tggtcatgaa gatcaaatga gagaataaaa gtcaagcact tagcctctgg
      901 tgcacaataa gtattaaata agtataccta ttcctccttt tcctttttta aaaataatat
      961 taccaaatgt ccagcttata cacatttaca agacttagct agtgggctat gttagagcta
     1021 ctaaaagatc tttgacaagc taaaactaag atgcaatgaa tgaggtgtaa cgaacaagag
     1081 agttttaagt tcagaaatgg ttacagaagt ataagacagc tgtgtgggtg ttttttggtt
     1141 tttggtttct ggtttacaat ctcgtcattc aacaaagatg ggagttttat agaactaaaa
     1201 gcaccatgta agctactaaa aacaacaaca aaaaaggctc atcatttctc agtctgaatt
     1261 gacaaaaatg ccaatgcaaa taaaaatgat tactttttat ttta
//
