LOCUS       NM_005309               1828 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens glutamic--pyruvic transaminase (GPT), mRNA.
ACCESSION   NM_005309
VERSION     NM_005309.3
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 1828)
  AUTHORS   Fan,X., Rong,H., Wang,Y., Li,M., Song,W., Su,A. and Yu,T.
  TITLE     The correlation between serum total bile acid and alanine
            aminotransferase of pregnant women and the disorders of neonatal
            hyperbilirubinemia-related amino acid metabolism
  JOURNAL   BMC Pregnancy Childbirth 24 (1), 26 (2024)
   PUBMED   38172739
  REMARK    GeneRIF: The correlation between serum total bile acid and alanine
            aminotransferase of pregnant women and the disorders of neonatal
            hyperbilirubinemia-related amino acid metabolism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1828)
  AUTHORS   Zhang,C., Xu,Q., Xu,C., Yang,K., Xia,T., Hasi,W., Hao,M. and
            Kuang,H.
  TITLE     Sex Differences in the Association Between AST/ALT and Incidence of
            Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver
            Disease: A Retrospective Cohort Study
  JOURNAL   Endocr Res 49 (1), 1-11 (2024)
   PUBMED   37752709
  REMARK    GeneRIF: Sex Differences in the Association Between AST/ALT and
            Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic
            Fatty Liver Disease: A Retrospective Cohort Study.
REFERENCE   3  (bases 1 to 1828)
  AUTHORS   Qin,Y.J., Wang,Z.G., Gong,J.H., Gong,J.P. and Li,J.H.
  TITLE     Role of alanine aminotransferase in the effects of urinary caffeine
            concentration and its primary metabolite concentration on cognitive
            function in older adults: Bayesian Kernel Machine regression
            analysis and mediation analysis
  JOURNAL   Eur Rev Med Pharmacol Sci 28 (2), 721-733 (2024)
   PUBMED   38305614
  REMARK    GeneRIF: Role of alanine aminotransferase in the effects of urinary
            caffeine concentration and its primary metabolite concentration on
            cognitive function in older adults: Bayesian Kernel Machine
            regression analysis and mediation analysis.
REFERENCE   4  (bases 1 to 1828)
  AUTHORS   He,S., Yu,C., Kuang,M., Qiu,J., Yang,R., Zhang,S., Sheng,G. and
            Zou,Y.
  TITLE     Alanine aminotransferase to high- density lipoprotein cholesterol
            ratio is positively correlated with the occurrence of diabetes in
            the Chinese population: a population-based cohort study
  JOURNAL   Front Endocrinol (Lausanne) 14, 1266692 (2023)
   PUBMED   38089616
  REMARK    GeneRIF: Alanine aminotransferase to high- density lipoprotein
            cholesterol ratio is positively correlated with the occurrence of
            diabetes in the Chinese population: a population-based cohort
            study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1828)
  AUTHORS   Asgari,S., Molavizadeh,D., Tohidi,M., Momenan,A.A., Azizi,F. and
            Hadaegh,F.
  TITLE     Prevalence and metabolic determinants of abnormal alanine
            aminotransferase: A cross-sectional study of Iranian adults,
            2018-2022
  JOURNAL   J Clin Lab Anal 37 (11-12), e24937 (2023)
   PUBMED   37403787
  REMARK    GeneRIF: Prevalence and metabolic determinants of abnormal alanine
            aminotransferase: A cross-sectional study of Iranian adults,
            2018-2022.
REFERENCE   6  (bases 1 to 1828)
  AUTHORS   Ishiguro,M., Takio,K., Suzuki,M., Oyama,R., Matsuzawa,T. and
            Titani,K.
  TITLE     Complete amino acid sequence of human liver cytosolic alanine
            aminotransferase (GPT) determined by a combination of conventional
            and mass spectral methods
  JOURNAL   Biochemistry 30 (43), 10451-10457 (1991)
   PUBMED   1931970
REFERENCE   7  (bases 1 to 1828)
  AUTHORS   Rocha,J., Amorim,A., Almeida,V.M., Oliveira,J.P., Leao,M.,
            Tavares,M.C., Pereira,M.S. and Vidal-Pinheiro,L.
  TITLE     Gene dosage evidence for the regional assignment of GPT
            (glutamate-pyruvate transaminase; E.C. 2.6.1.2) locus to
            8q24.2----8qter
  JOURNAL   Hum Genet 80 (3), 299-300 (1988)
   PUBMED   3192219
REFERENCE   8  (bases 1 to 1828)
  AUTHORS   Astrin,K.H., Arredondo-Vega,F.X., Desnick,R.J. and Smith,M.
  TITLE     Assignment of the gene for cytosolic alanine aminotransferase
            (AAT1) to human chromosome 8
  JOURNAL   Ann Hum Genet 46 (2), 125-133 (1982)
   PUBMED   7114790
REFERENCE   9  (bases 1 to 1828)
  AUTHORS   Olaisen,B.
  TITLE     Genetics of the GPT system. Family, mother/child and association
            studies
  JOURNAL   Clin Genet 7 (3), 245-254 (1975)
   PUBMED   49232
REFERENCE   10 (bases 1 to 1828)
  AUTHORS   Chen,S.H. and Giblett,E.R.
  TITLE     Polymorphism of soluble glutamic-pyruvic transaminase: a new
            genetic marker in man
  JOURNAL   Science 173 (3992), 148-149 (1971)
   PUBMED   5581908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP275218.1, BT006992.1 and
            AI283141.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005309.2.
            
            Summary: This gene encodes cytosolic alanine aminotransaminase 1
            (ALT1); also known as glutamate-pyruvate transaminase 1. This
            enzyme catalyzes the reversible transamination between alanine and
            2-oxoglutarate to generate pyruvate and glutamate and, therefore,
            plays a key role in the intermediary metabolism of glucose and
            amino acids. Serum activity levels of this enzyme are routinely
            used as a biomarker of liver injury caused by drug toxicity,
            infection, alcohol, and steatosis. A related gene on chromosome 16
            encodes a putative mitochondrial alanine
            aminotransaminase.[provided by RefSeq, Nov 2009].
            
            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 :: SRR3476690.911110.1,
                                           SRR1660807.79276.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: relevant for disease process
            MANE Ensembl match     :: ENST00000394955.3/ ENSP00000378408.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               BP275218.1         59-223
            166-1654            BT006992.1         1-1489
            1655-1828           AI283141.1         11-184              c
FEATURES             Location/Qualifiers
     source          1..1828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..1828
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /note="glutamic--pyruvic transaminase"
                     /db_xref="GeneID:2875"
                     /db_xref="HGNC:HGNC:4552"
                     /db_xref="MIM:138200"
     exon            1..327
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     CDS             166..1656
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /EC_number="2.6.1.2"
                     /note="glutamic-alanine transaminase 1; glutamic--pyruvic
                     transaminase 1; alanine aminotransferase; glutamate
                     pyruvate transaminase 1; glutamic-pyruvate transaminase
                     (alanine aminotransferase)"
                     /codon_start=1
                     /product="alanine aminotransferase 1"
                     /protein_id="NP_005300.1"
                     /db_xref="CCDS:CCDS6430.1"
                     /db_xref="GeneID:2875"
                     /db_xref="HGNC:HGNC:4552"
                     /db_xref="MIM:138200"
                     /translation="MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQR
                     ALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPITFLRQVLALCVNPDLLSSPNFPD
                     DAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
                     SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDV
                     AELHRALGQARDHCRPRALCVINPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQ
                     DNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGECGFRGGYVEVVNMDA
                     AVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKL
                     TEQVFNEAPGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGIC
                     VVPGSGFGQREGTYHFRMTILPPLEKLRLLLEKLSRFHAKFTLEYS"
     exon            328..417
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            418..526
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            527..660
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            661..904
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            905..984
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1121
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1296
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1452
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1565
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1828
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1801..1806
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /note="hexamer: AATAAA"
     polyA_site      1828
                     /gene="GPT"
                     /gene_synonym="AAT1; ALT; ALT1; GPT1; SGPT"
                     /note="major polyA site"
ORIGIN      
        1 agtgaggcca gctgcggtga agagggtgct ctcttgcctg gagttccctc tgctacggct
       61 gccccctccc agccctggcc cactaagcca gacccagctg tcgccattcc cacttctggt
      121 cctgccacct cctgagctgc cttcccgcct ggtctgggta gagtcatggc ctcgagcaca
      181 ggtgaccgga gccaggcggt gaggcatgga ctgagggcga aggtgctgac gctggacggc
      241 atgaacccgc gtgtgcggag agtggagtac gcagtgcgtg gccccatagt gcagcgagcc
      301 ttggagctgg agcaggagct gcgccagggt gtgaagaagc ctttcaccga ggtcatccgt
      361 gccaacatcg gggacgcaca ggctatgggg cagaggccca tcaccttcct gcgccaggtc
      421 ttggccctct gtgttaaccc tgatcttctg agcagcccca acttccctga cgatgccaag
      481 aaaagggcgg agcgcatctt gcaggcgtgt gggggccaca gtctgggggc ctacagcgtc
      541 agctccggca tccagctgat ccgggaggac gtggcgcggt acattgagag gcgtgacgga
      601 ggcatccctg cggaccccaa caacgtcttc ctgtccacag gggccagcga tgccatcgtg
      661 acggtgctga agctgctggt ggccggcgag ggccacacac gcacgggtgt gctcatcccc
      721 atcccccagt acccactcta ctcggccacg ctggcagagc tgggcgcagt gcaggtggat
      781 tactacctgg acgaggagcg tgcctgggcg ctggacgtgg ccgagcttca ccgtgcactg
      841 ggccaggcgc gtgaccactg ccgccctcgt gcgctctgtg tcatcaaccc tggcaacccc
      901 accgggcagg tgcagacccg cgagtgcatc gaggccgtga tccgcttcgc cttcgaagag
      961 cggctctttc tgctggcgga cgaggtgtac caggacaacg tgtacgccgc gggttcgcag
     1021 ttccactcat tcaagaaggt gctcatggag atggggccgc cctacgccgg gcagcaggag
     1081 cttgcctcct tccactccac ctccaagggc tacatgggcg agtgcgggtt ccgcggcggc
     1141 tatgtggagg tggtgaacat ggacgctgca gtgcagcagc agatgctgaa gctgatgagt
     1201 gtgcggctgt gcccgccggt gccaggacag gccctgctgg acctggtggt cagcccgccc
     1261 gcgcccaccg acccctcctt tgcgcagttc caggctgaga agcaggcagt gctggcagag
     1321 ctggcggcca aggccaagct caccgagcag gtcttcaatg aggctcctgg catcagctgc
     1381 aacccagtgc agggcgccat gtactccttc ccgcgcgtgc agctgccccc gcgggcggtg
     1441 gagcgcgctc aggagctggg cctggccccc gatatgttct tctgcctgcg cctcctggag
     1501 gagaccggca tctgcgtggt gccagggagc ggctttgggc agcgggaagg cacctaccac
     1561 ttccggatga ccattctgcc ccccttggag aaactgcggc tgctgctgga gaagctgagc
     1621 aggttccatg ccaagttcac cctcgagtac tcctgagcac cccagctggg gccaggctgg
     1681 gtcgccctgg actgtgtgct caggagccct gggaggctct ggagcccact gtacttgctc
     1741 ttgatgcctg gcggggtggg gtgggggggg tgctgggccc ctgcctctct gcaggtccct
     1801 aataaagctg tgtggcagtc tgactcca
//
