LOCUS       NM_001288833            2630 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant
            6, mRNA.
ACCESSION   NM_001288833 XM_005261552
VERSION     NM_001288833.2
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 2630)
  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   2  (bases 1 to 2630)
  AUTHORS   Leh,H., Chikhi,N., Ichino,K., Guellaen,G., Wellman,M., Siest,G. and
            Visvikis,A.
  TITLE     An intronic promoter controls the expression of truncated human
            gamma-glutamyltransferase mRNAs
  JOURNAL   FEBS Lett 434 (1-2), 51-56 (1998)
   PUBMED   9738450
REFERENCE   3  (bases 1 to 2630)
  AUTHORS   Courtay,C., Heisterkamp,N., Siest,G. and Groffen,J.
  TITLE     Expression of multiple gamma-glutamyltransferase genes in man
  JOURNAL   Biochem J 297 (Pt 3) (Pt 3), 503-508 (1994)
   PUBMED   7906515
REFERENCE   4  (bases 1 to 2630)
  AUTHORS   Wetmore,L.A., Gerard,C. and Drazen,J.M.
  TITLE     Human lung expresses unique gamma-glutamyl transpeptidase
            transcripts
  JOURNAL   Proc Natl Acad Sci U S A 90 (16), 7461-7465 (1993)
   PUBMED   7689219
REFERENCE   5  (bases 1 to 2630)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624459
REFERENCE   6  (bases 1 to 2630)
  AUTHORS   Pawlak,A., Cohen,E.H., Octave,J.N., Schweickhardt,R., Wu,S.J.,
            Bulle,F., Chikhi,N., Baik,J.H., Siegrist,S. and Guellaen,G.
  TITLE     An alternatively processed mRNA specific for gamma-glutamyl
            transpeptidase in human tissues
  JOURNAL   J Biol Chem 265 (6), 3256-3262 (1990)
   PUBMED   1968061
REFERENCE   7  (bases 1 to 2630)
  AUTHORS   Goodspeed,D.C., Dunn,T.J., Miller,C.D. and Pitot,H.C.
  TITLE     Human gamma-glutamyl transpeptidase cDNA: comparison of hepatoma
            and kidney mRNA in the human and rat
  JOURNAL   Gene 76 (1), 1-9 (1989)
   PUBMED   2568315
REFERENCE   8  (bases 1 to 2630)
  AUTHORS   Sakamuro,D., Yamazoe,M., Matsuda,Y., Kangawa,K., Taniguchi,N.,
            Matsuo,H., Yoshikawa,H. and Ogasawara,N.
  TITLE     The primary structure of human gamma-glutamyl transpeptidase
  JOURNAL   Gene 73 (1), 1-9 (1988)
   PUBMED   2907498
REFERENCE   9  (bases 1 to 2630)
  AUTHORS   Rajpert-De Meyts,E., Heisterkamp,N. and Groffen,J.
  TITLE     Cloning and nucleotide sequence of human gamma-glutamyl
            transpeptidase
  JOURNAL   Proc Natl Acad Sci U S A 85 (23), 8840-8844 (1988)
   PUBMED   2904146
REFERENCE   10 (bases 1 to 2630)
  AUTHORS   Laperche,Y., Bulle,F., Aissani,T., Chobert,M.N., Aggerbeck,M.,
            Hanoune,J. and Guellaen,G.
  TITLE     Molecular cloning and nucleotide sequence of rat kidney
            gamma-glutamyl transpeptidase cDNA
  JOURNAL   Proc Natl Acad Sci U S A 83 (4), 937-941 (1986)
   PUBMED   2869484
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1989 May;86(9):3159]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CD625024.1, HY003521.1,
            BC035341.1 and L20494.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001288833.1.
            
            Summary: The enzyme encoded by this gene is a type I
            gamma-glutamyltransferase that catalyzes the transfer of the
            glutamyl moiety of glutathione to a variety of amino acids and
            dipeptide acceptors. The enzyme is composed of a heavy chain and a
            light chain, which are derived from a single precursor protein. It
            is expressed in tissues involved in absorption and secretion and
            may contribute to the etiology of diabetes and other metabolic
            disorders. Multiple alternatively spliced variants have been
            identified. There are a number of related genes present on
            chromosomes 20 and 22, and putative pseudogenes for this gene on
            chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (6) represents the longest
            transcript. Variants 2, 3, and 6 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 :: BC035341.1, SRR11853565.19456.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400382.6/ ENSP00000383232.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 CD625024.1         42-45
            5-8                 HY003521.1         18-21
            9-348               BC035341.1         1-340
            349-474             L20494.1           121-246
            475-2630            BC035341.1         467-2622
FEATURES             Location/Qualifiers
     source          1..2630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..2630
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /note="gamma-glutamyltransferase 1"
                     /db_xref="GeneID:2678"
                     /db_xref="HGNC:HGNC:4250"
                     /db_xref="MIM:612346"
     exon            1..335
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            336..405
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            406..474
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            475..756
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            757..927
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     CDS             764..2473
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /EC_number="2.3.2.2"
                     /EC_number="3.4.19.13"
                     /EC_number="3.4.19.14"
                     /note="gamma-glutamyltranspeptidase 1; testicular tissue
                     protein Li 73; glutathione hydrolase 1 proenzyme;
                     leukotriene-C4 hydrolase"
                     /codon_start=1
                     /product="glutathione hydrolase 1 proenzyme precursor"
                     /protein_id="NP_001275762.1"
                     /db_xref="CCDS:CCDS42992.1"
                     /db_xref="GeneID:2678"
                     /db_xref="HGNC:HGNC:4250"
                     /db_xref="MIM:612346"
                     /translation="MKKKLVVLGLLAVVLVLVIVGLCLWLPSASKEPDNHVYTRAAVA
                     ADAKQCSKIGRDALRDGGSAVDAAIAALLCVGLMNAHSMGIGGGLFLTIYNSTTRKAE
                     VINAREVAPRLAFATMFNSSEQSQKGGLSVAVPGEIRGYELAHQRHGRLPWARLFQPS
                     IQLARQGFPVGKGLAAALENKRTVIEQQPVLCEVFCRDRKVLREGERLTLPQLADTYE
                     TLAIEGAQAFYNGSLTAQIVKDIQAAGGIVTAEDLNNYRAELIEHPLNISLGDVVLYM
                     PSAPLSGPVLALILNILKGYNFSRESVESPEQKGLTYHRIVEAFRFAYAKRTLLGDPK
                     FVDVTEVVRNMTSEFFAAQLRAQISDDTTHPISYYKPEFYTPDDGGTAHLSVVAEDGS
                     AVSATSTINLYFGSKVRSPVSGILFNNEMDDFSSPSITNEFGVPPSPANFIQPGKQPL
                     SSMCPTIMVGQDGQVRMVVGAAGGTQITTATALAIIYNLWFGYDVKRAVEEPRLHNQL
                     LPNVTTVERNIDQAVTAALETRHHHTQIASTFIAVVQAIVRTAGGWAAASDSRKGGEP
                     AGY"
     exon            928..1058
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1145
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1338
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1496
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1497..1646
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1647..1783
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1784..1971
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            1972..2099
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            2100..2212
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            2213..2326
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     exon            2327..2630
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2582..2587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /note="hexamer: AATAAA"
     polyA_site      2630
                     /gene="GGT1"
                     /gene_synonym="CD224; D22S672; D22S732; GGT; GGT 1; GGTD;
                     GTG"
                     /note="major polyA site"
ORIGIN      
        1 gttttggtgt gctgctggat gaccagaccg ggcgtcgggt gagcccagaa gtgagagcag
       61 ttggctgtgc cccagtgctg tgtgacccag aggcgccgct caccctctct gagctggtgg
      121 acatcatagg tggggaagct caggtcaggg cactcccatg agtgtctgga ggcctgagtc
      181 ccattctcag ctctgccata tgcttgctgc gctctagagg agttcctctt cctctccaag
      241 cctcggttta tgtacccgtg cagtgggagt gagttgcact tcggggtgaa gggggcaaga
      301 cttgtgtggg cgcatcctgc agaaggatcc cacagcgggt gcagcccaga actgtcttct
      361 gaggaagagg tgctctcctg ggcccccact gtccccaggc ctcagcaagg caagtgaggt
      421 gctgccgtca tccaggctgg acagttcagt gatttgcctg aggccccaca gcagagttca
      481 actggagaca gagaaaccag ctagaggcag agggaggtaa cacggagtcc cccagaaagg
      541 tctgggctgc gcgtgcttca ggtaacctcc cttgaccttc aggagaacga gaaggctgcc
      601 tgatcagaga gtccctgaag aagattctgt ggctacaggc ttcagcagag tgtgagggag
      661 accccggtta tttcctcagc tatttccacc aaatcctcct gtctttcgtg gccaacaccc
      721 caggcaaggc ttggggcccc cgtctgctgc tggacgcaga gccatgaaga agaagttagt
      781 ggtgctgggc ctgctggccg tggtcctggt gctggtcatt gtcggcctct gtctctggct
      841 gccctcagcc tccaaggaac ctgacaacca tgtgtacacc agggctgccg tggccgcgga
      901 tgccaagcag tgctcgaaga ttgggaggga tgcactgcgg gacggtggct ctgcggtgga
      961 tgcagccatt gcagccctgt tgtgtgtggg gctcatgaat gcccacagca tgggcatcgg
     1021 gggtggcctc ttcctcacca tctacaacag caccacacga aaagctgagg tcatcaacgc
     1081 ccgcgaggtg gcccccaggc tggcctttgc caccatgttc aacagctcgg agcagtccca
     1141 gaaggggggg ctgtcggtgg cggtgcctgg ggagatccga ggctatgagc tggcacacca
     1201 gcggcatggg cggctgccct gggctcgcct cttccagccc agcatccagc tggcccgcca
     1261 gggcttcccc gtgggcaagg gcttggcggc agccctggaa aacaagcgga ccgtcatcga
     1321 gcagcagcct gtcttgtgtg aggtgttctg ccgggataga aaggtgcttc gggaggggga
     1381 gagactgacc ctgccgcagc tggctgacac ctacgagacg ctggccatcg agggtgccca
     1441 ggccttctac aacggcagcc tcacggccca gattgtgaag gacatccagg cggccggggg
     1501 cattgtgaca gctgaggacc tgaacaacta ccgtgctgag ctgatcgagc acccgctgaa
     1561 catcagcctg ggagacgtgg tgctgtacat gcccagtgcg ccgctcagcg ggcccgtgct
     1621 ggccctcatc ctcaacatcc tcaaagggta caacttctcc cgggagagcg tggagagccc
     1681 cgagcagaag ggcctgacgt accaccgcat cgtagaggct ttccggtttg cctacgccaa
     1741 gaggaccctg cttggggacc ccaagtttgt ggatgtgact gaggtggtcc gcaacatgac
     1801 ctccgagttc ttcgctgccc agctccgggc ccagatctct gacgacacca ctcacccgat
     1861 ctcctactac aagcccgagt tctacacgcc ggatgacggg ggcactgctc acctgtctgt
     1921 cgtcgcagag gacggcagtg ctgtgtccgc caccagcacc atcaacctct actttggctc
     1981 caaggtccgc tccccggtca gcgggatcct gttcaataat gaaatggacg acttcagctc
     2041 tcccagcatc accaacgagt ttggggtacc cccctcacct gccaatttca tccagccagg
     2101 gaagcagccg ctctcgtcca tgtgcccgac gatcatggtg ggccaggacg gccaggtccg
     2161 gatggtggtg ggagctgctg ggggcacaca gatcaccacg gccactgcac tggccatcat
     2221 ctacaacctc tggttcggct atgacgtgaa gcgggccgtg gaggagcccc ggctgcacaa
     2281 ccagcttctg cccaacgtca cgacagtgga gagaaacatt gaccaggcag tgactgcagc
     2341 cctggagacc cggcaccatc acacccagat cgcgtccacc ttcatcgctg tggtgcaagc
     2401 catcgtccgc acggctggtg gctgggcagc tgcctcggac tccaggaaag gcggggagcc
     2461 tgccggctac tgagtgctcc aggaggacaa ggctgacaag caatccaggg acaagatact
     2521 caccaggacc aggaagggga ctctggggga ccggcttccc ctgtgagcag cagagcagca
     2581 caataaatga ggccactgtg ccaggctcca ggtggcctcc ctggcctgtc
//
