LOCUS       NM_004038               1785 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens amylase alpha 1A (AMY1A), transcript variant 1, mRNA.
ACCESSION   NM_004038 XM_001127960
VERSION     NM_004038.4
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 1785)
  AUTHORS   Mauricio-Castillo,R., Valdevit,A., Gonzalez-Davalos,L.,
            Dominguez-Perez,R.A., Garcia-Solis,P., Vazquez-Martinez,O.,
            Hernandez-Montiel,H.L. and Solis-Sainz,J.C.
  TITLE     Dental caries prevalence and severity positively associate with
            AMY1 gene copy number
  JOURNAL   Clin Oral Investig 28 (1), 25 (2023)
   PUBMED   38147184
  REMARK    GeneRIF: Dental caries prevalence and severity positively associate
            with AMY1 gene copy number.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1785)
  AUTHORS   Stoffel,M., Rahn,S., Neubauer,A.B., Moessner,M., Aguilar-Raab,C.
            and Ditzen,B.
  TITLE     Associations of SLC6A4 methylation with salivary cortisol, salivary
            alpha-amylase, and subjective stress in everyday life
  JOURNAL   Psychoneuroendocrinology 153, 106283 (2023)
   PUBMED   37196602
  REMARK    GeneRIF: Associations of SLC6A4 methylation with salivary cortisol,
            salivary alpha-amylase, and subjective stress in everyday life.
REFERENCE   3  (bases 1 to 1785)
  AUTHORS   Zhang,X., Moran,C., Wang,R., Zhou,Y. and Brooks,N.
  TITLE     Salivary amylase gene (AMY1) copy number variation has only a minor
            correlation with body composition in Chinese adults
  JOURNAL   Genes Genomics 45 (7), 935-943 (2023)
   PUBMED   37043131
  REMARK    GeneRIF: Salivary amylase gene (AMY1) copy number variation has
            only a minor correlation with body composition in Chinese adults.
REFERENCE   4  (bases 1 to 1785)
  AUTHORS   Nayema,Z., Sato,T., Kannon,T., Tsujiguchi,H., Hosomichi,K.,
            Nakamura,H. and Tajima,A.
  TITLE     Genetic factors associated with serum amylase in a Japanese
            population: combined analysis of copy-number and single-nucleotide
            variants
  JOURNAL   J Hum Genet 68 (5), 313-319 (2023)
   PUBMED   36599956
  REMARK    GeneRIF: Genetic factors associated with serum amylase in a
            Japanese population: combined analysis of copy-number and
            single-nucleotide variants.
REFERENCE   5  (bases 1 to 1785)
  AUTHORS   Yamane,N., Ikeda,A., Tomooka,K., Saito,I., Maruyama,K., Eguchi,E.,
            Suyama,K., Fujii,A., Shiba,T., Tanaka,K., Kooka,A., Nakamura,S.,
            Kajita,M., Kawamura,R., Takata,Y., Osawa,H., Steptoe,A. and
            Tanigawa,T.
  TITLE     Salivary Alpha-Amylase Activity and Mild Cognitive Impairment among
            Japanese Older Adults: The Toon Health Study
  JOURNAL   J Prev Alzheimers Dis 9 (4), 752-757 (2022)
   PUBMED   36281680
  REMARK    GeneRIF: Salivary Alpha-Amylase Activity and Mild Cognitive
            Impairment among Japanese Older Adults: The Toon Health Study.
REFERENCE   6  (bases 1 to 1785)
  AUTHORS   Bank,R.A., Hettema,E.H., Arwert,F., Amerongen,A.V. and Pronk,J.C.
  TITLE     Electrophoretic characterization of posttranslational modifications
            of human parotid salivary alpha-amylase
  JOURNAL   Electrophoresis 12 (1), 74-79 (1991)
   PUBMED   1710976
REFERENCE   7  (bases 1 to 1785)
  AUTHORS   Groot,P.C., Mager,W.H., Henriquez,N.V., Pronk,J.C., Arwert,F.,
            Planta,R.J., Eriksson,A.W. and Frants,R.R.
  TITLE     Evolution of the human alpha-amylase multigene family through
            unequal, homologous, and inter- and intrachromosomal crossovers
  JOURNAL   Genomics 8 (1), 97-105 (1990)
   PUBMED   2081604
REFERENCE   8  (bases 1 to 1785)
  AUTHORS   Handy,D.E., Larsen,S.H., Karn,R.C. and Hodes,M.E.
  TITLE     Identification of a human salivary amylase gene. Partial sequence
            of genomic DNA suggests a mode of regulation different from that of
            mouse, Amy1
  JOURNAL   Mol Biol Med 4 (3), 145-155 (1987)
   PUBMED   2442579
REFERENCE   9  (bases 1 to 1785)
  AUTHORS   Davis,M.M., Hodes,M.E., Munsick,R.A., Ulbright,T.M. and
            Goldstein,D.J.
  TITLE     Pancreatic amylase expression in human pancreatic development
  JOURNAL   Hybridoma 5 (2), 137-145 (1986)
   PUBMED   2424823
REFERENCE   10 (bases 1 to 1785)
  AUTHORS   Nishide,T., Nakamura,Y., Emi,M., Yamamoto,T., Ogawa,M., Mori,T. and
            Matsubara,K.
  TITLE     Primary structure of human salivary alpha-amylase gene
  JOURNAL   Gene 41 (2-3), 299-304 (1986)
   PUBMED   2423416
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105272.2.
            
            On Sep 16, 2020 this sequence version replaced NM_004038.3.
            
            Summary: Amylases are secreted proteins that hydrolyze
            1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides,
            and thus catalyze the first step in digestion of dietary starch and
            glycogen. The human genome has a cluster of several amylase genes
            that are expressed at high levels in either salivary gland or
            pancreas. This gene encodes an amylase isoenzyme produced by the
            salivary gland. Alternative splicing results in multiple transcript
            variants encoding the same protein. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK313275.1, BC063129.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370083.9/ ENSP00000359100.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-169               AC105272.2         106067-106235
            170-383             AC105272.2         106592-106805
            384-530             AC105272.2         107151-107297
            531-728             AC105272.2         108101-108298
            729-959             AC105272.2         108747-108977
            960-1093            AC105272.2         109717-109850
            1094-1216           AC105272.2         110667-110789
            1217-1316           AC105272.2         110884-110983
            1317-1435           AC105272.2         112964-113082
            1436-1561           AC105272.2         113193-113318
            1562-1785           AC105272.2         114638-114861
FEATURES             Location/Qualifiers
     source          1..1785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.1"
     gene            1..1785
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /note="amylase alpha 1A"
                     /db_xref="GeneID:276"
                     /db_xref="HGNC:HGNC:474"
                     /db_xref="MIM:104700"
     exon            1..169
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            170..383
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..1751
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /EC_number="3.2.1.1"
                     /note="glycogenase; amylase, salivary, alpha-1A; salivary
                     amylase alpha 1A; alpha-amylase 1; salivary alpha-amylase;
                     1,4-alpha-D-glucan glucanohydrolase 1; amylase alpha 1A
                     (salivary); alpha-amylase 1A"
                     /codon_start=1
                     /product="alpha-amylase 1A precursor"
                     /protein_id="NP_004029.2"
                     /db_xref="CCDS:CCDS30782.1"
                     /db_xref="GeneID:276"
                     /db_xref="HGNC:HGNC:474"
                     /db_xref="MIM:104700"
                     /translation="MKLFWLLFTIGFCWAQYSSNTQQGRTSIVHLFEWRWVDIALECE
                     RYLAPKGFGGVQVSPPNENVAIHNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCN
                     NVGVRIYVDAVINHMCGNAVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGS
                     GDIENYNDATQVRDCRLSGLLDLALGKDYVRSKIAEYMNHLIDIGVAGFRIDASKHMW
                     PGDIKAILDKLHNLNSNWFPEGSKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAK
                     LGTVIRKWNGEKMSYLKNWGEGWGFMPSDRALVFVDNHDNQRGHGAGGASILTFWDAR
                     LYKMAVGFMLAHPYGFTRVMSSYRWPRYFENGKDVNDWVGPPNDNGVTKEVTINPDTT
                     CGNDWVCEHRWRQIRNMVNFRNVVDGQPFTNWYDNGSNQVAFGRGNRGFIVFNNDDWT
                     FSLTLQTGLPAGTYCDVISGDKINGNCTGIKIYVSDDGKAHFSISNSAEDPFIAIHAE
                     SKL"
     exon            384..530
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            531..728
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            729..959
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1093
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1216
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1316
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1435
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1561
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1785
                     /gene="AMY1A"
                     /gene_synonym="AMY1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atctagaggc tgggaagggc tcctgaacca gttgtttccg tcttgtcggt ctgtcagggt
       61 tggaaagtcc aagccatagg acccagtttc ctttcttagc ttacgttatc taccagagca
      121 ccgtgggctg ttacttgcct tgagttggaa gcggttcgca tttataccgg aatataaata
      181 gtttctggaa aggacactga caacttcaaa gcaaaatgaa gctcttttgg ttgcttttca
      241 ccattgggtt ctgctgggct cagtattcct caaatacaca acaaggacga acatctattg
      301 ttcatctgtt tgaatggcga tgggttgata ttgctcttga atgtgagcga tatttagctc
      361 ccaagggatt tggaggggtt caggtctctc caccaaatga aaatgttgcc attcacaacc
      421 ctttcagacc ttggtgggaa agataccaac cagttagcta taaattatgc acaagatctg
      481 gaaatgaaga tgaatttaga aacatggtga ctagatgcaa caatgttggg gttcgtattt
      541 atgtggatgc tgtaattaat catatgtgtg gtaatgctgt gagtgcagga acaagcagta
      601 cctgtggaag ttacttcaac cctggaagta gggactttcc agcagtccca tattctggat
      661 gggattttaa tgatggtaaa tgtaaaactg gaagtggaga tatcgagaac tataatgatg
      721 ctactcaggt cagagattgt cgtctgtctg gtcttctcga tcttgcactg gggaaggatt
      781 atgtgcgttc taagattgcc gaatatatga accatctcat tgacattggt gttgcagggt
      841 tcagaattga tgcttccaag cacatgtggc ctggagacat aaaggcaatt ttggacaaac
      901 tgcataatct aaacagtaac tggttcccgg aaggtagtaa acctttcatt taccaggagg
      961 taattgatct gggtggtgag ccaattaaaa gcagtgacta ctttggtaat ggccgggtga
     1021 cagaattcaa gtatggtgca aaactcggca cagttattcg caagtggaat ggagagaaga
     1081 tgtcttactt aaagaactgg ggagaaggtt ggggtttcat gccttctgac agagcgcttg
     1141 tctttgtgga taaccatgac aatcaacgag gacatggcgc tggaggagcc tctatactta
     1201 ccttctggga tgctaggctg tacaaaatgg cagttggatt tatgcttgct catccttatg
     1261 gatttacacg agtaatgtca agctaccgtt ggccaagata ttttgaaaat ggaaaagatg
     1321 ttaatgattg ggttgggcca ccaaatgata atggagtaac taaagaagtt actattaatc
     1381 cagacactac ttgtggcaat gactgggtct gtgaacatcg atggcgccaa ataaggaaca
     1441 tggttaattt ccgcaatgta gtggatggcc agccttttac aaactggtat gataatggga
     1501 gcaaccaagt ggcttttggg agaggaaaca gaggattcat tgttttcaac aatgatgact
     1561 ggacattttc tttaactttg caaactggtc ttcctgctgg cacatactgt gatgtcattt
     1621 ctggagataa aattaatggc aactgcacag gcattaaaat ctacgtttct gatgatggca
     1681 aagctcattt ttctattagt aactctgctg aagatccatt tattgcaatt catgctgaat
     1741 ctaaattgta aaatttaaaa ttaaatgcaa atccgcaaag caata
//
