LOCUS       NM_000045               1447 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens arginase 1 (ARG1), transcript variant 2, mRNA.
ACCESSION   NM_000045
VERSION     NM_000045.4
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 1447)
  AUTHORS   Dwivedi,A., Ui Mhaonaigh,A., Carroll,M., Khosravi,B., Batten,I.,
            Ballantine,R.S., Hendricken Phelan,S., O'Doherty,L., George,A.M.,
            Sui,J., Hawerkamp,H.C., Fallon,P.G., Noppe,E., Mason,S., Conlon,N.,
            Ni Cheallaigh,C., Finlay,C.M., Little,M.A. and
            Bioresource,O.B.O.T.S.J.A.T.T.A.R.S.
  TITLE     Emergence of dysfunctional neutrophils with a defect in arginase-1
            release in severe COVID-19
  JOURNAL   JCI Insight 9 (17), e171659 (2024)
   PUBMED   39253969
  REMARK    GeneRIF: Emergence of dysfunctional neutrophils with a defect in
            arginase-1 release in severe COVID-19.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1447)
  AUTHORS   Elomaa,H., Harkonen,J., Vayrynen,S.A., Ahtiainen,M., Ogino,S.,
            Nowak,J.A., Lau,M.C., Helminen,O., Wirta,E.V., Seppala,T.T.,
            Bohm,J., Mecklin,J.P., Kuopio,T. and Vayrynen,J.P.
  TITLE     Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase
            (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell
            Infiltration in Colorectal Cancer
  JOURNAL   Mod Pathol 37 (4), 100450 (2024)
   PUBMED   38369188
  REMARK    GeneRIF: Quantitative Multiplexed Analysis of Indoleamine
            2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid
            Cell Infiltration in Colorectal Cancer.
REFERENCE   3  (bases 1 to 1447)
  AUTHORS   Chew,H.Y., Cvetkovic,G., Tepic,S. and Wells,J.W.
  TITLE     Arginase-induced cell death pathways and metabolic changes in
            cancer cells are not altered by insulin
  JOURNAL   Sci Rep 14 (1), 4112 (2024)
   PUBMED   38374190
  REMARK    GeneRIF: Arginase-induced cell death pathways and metabolic changes
            in cancer cells are not altered by insulin.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1447)
  AUTHORS   Akinjiyan,F.A., Ibitoye,Z., Zhao,P., Shriver,L.P., Patti,G.J.,
            Longmore,G.D. and Fuh,K.C.
  TITLE     DDR2-regulated arginase activity in ovarian cancer-associated
            fibroblasts promotes collagen production and tumor progression
  JOURNAL   Oncogene 43 (3), 189-201 (2024)
   PUBMED   37996700
  REMARK    GeneRIF: DDR2-regulated arginase activity in ovarian
            cancer-associated fibroblasts promotes collagen production and
            tumor progression.
REFERENCE   5  (bases 1 to 1447)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301396
REFERENCE   6  (bases 1 to 1447)
  AUTHORS   Sun,A., Crombez,E.A. and Wong,D.
  TITLE     Arginase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301338
REFERENCE   7  (bases 1 to 1447)
  AUTHORS   Uchino,T., Haraguchi,Y., Aparicio,J.M., Mizutani,N.,
            Higashikawa,M., Naitoh,H., Mori,M. and Matsuda,I.
  TITLE     Three novel mutations in the liver-type arginase gene in three
            unrelated Japanese patients with argininemia
  JOURNAL   Am J Hum Genet 51 (6), 1406-1412 (1992)
   PUBMED   1463019
REFERENCE   8  (bases 1 to 1447)
  AUTHORS   Grody,W.W., Klein,D., Dodson,A.E., Kern,R.M., Wissmann,P.B.,
            Goodman,B.K., Bassand,P., Marescau,B., Kang,S.S., Leonard,J.V. et
            al.
  TITLE     Molecular genetic study of human arginase deficiency
  JOURNAL   Am J Hum Genet 50 (6), 1281-1290 (1992)
   PUBMED   1598908
REFERENCE   9  (bases 1 to 1447)
  AUTHORS   Ikemoto,M., Tabata,M., Miyake,T., Kono,T., Mori,M., Totani,M. and
            Murachi,T.
  TITLE     Expression of human liver arginase in Escherichia coli.
            Purification and properties of the product
  JOURNAL   Biochem J 270 (3), 697-703 (1990)
   PUBMED   2241902
REFERENCE   10 (bases 1 to 1447)
  AUTHORS   Haraguchi,Y., Aparicio,J.M., Takiguchi,M., Akaboshi,I., Yoshino,M.,
            Mori,M. and Matsuda,I.
  TITLE     Molecular basis of argininemia. Identification of two discrete
            frame-shift deletions in the liver-type arginase gene
  JOURNAL   J Clin Invest 86 (1), 347-350 (1990)
   PUBMED   2365823
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG542163.1 and BC020653.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000045.3.
            
            Summary: Arginase catalyzes the hydrolysis of arginine to ornithine
            and urea. At least two isoforms of mammalian arginase exist (types
            I and II) which differ in their tissue distribution, subcellular
            localization, immunologic crossreactivity and physiologic function.
            The type I isoform encoded by this gene, is a cytosolic enzyme and
            expressed predominantly in the liver as a component of the urea
            cycle. Inherited deficiency of this enzyme results in argininemia,
            an autosomal recessive disorder characterized by hyperammonemia.
            Two transcript variants encoding different isoforms have been found
            for this gene. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to isoform 1.
            
            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 :: SRR5189664.66609.1,
                                           SRR5189664.105174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368087.8/ ENSP00000357066.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                BG542163.1         25-76
            53-1447             BC020653.1         1-1395
FEATURES             Location/Qualifiers
     source          1..1447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.2"
     gene            1..1447
                     /gene="ARG1"
                     /note="arginase 1"
                     /db_xref="GeneID:383"
                     /db_xref="HGNC:HGNC:663"
                     /db_xref="MIM:608313"
     exon            1..114
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1026
                     /gene="ARG1"
                     /EC_number="3.5.3.1"
                     /note="isoform 2 is encoded by transcript variant 2; type
                     I arginase; liver-type arginase; arginase, liver"
                     /codon_start=1
                     /product="arginase-1 isoform 2"
                     /protein_id="NP_000036.2"
                     /db_xref="CCDS:CCDS5145.1"
                     /db_xref="GeneID:383"
                     /db_xref="HGNC:HGNC:663"
                     /db_xref="MIM:608313"
                     /translation="MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQE
                     CDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQLAGKVAEVKKNGRISLVLGGDHS
                     LAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVP
                     GFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSY
                     LLGRKKRPIHLSFDVDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIM
                     EVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNPPK"
     exon            115..187
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     exon            188..362
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     exon            363..522
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     exon            523..617
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     exon            618..722
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     exon            723..859
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     exon            860..1447
                     /gene="ARG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1427..1432
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARG1"
                     /note="hexamer: AATAAA"
     polyA_site      1447
                     /gene="ARG1"
                     /note="major polyA site"
ORIGIN      
        1 gtcactgagg gttgactgac tggagagctc aagtgcagca aagagaagtg tcagagcatg
       61 agcgccaagt ccagaaccat agggattatt ggagctcctt tctcaaaggg acagccacga
      121 ggaggggtgg aagaaggccc tacagtattg agaaaggctg gtctgcttga gaaacttaaa
      181 gaacaagagt gtgatgtgaa ggattatggg gacctgccct ttgctgacat ccctaatgac
      241 agtccctttc aaattgtgaa gaatccaagg tctgtgggaa aagcaagcga gcagctggct
      301 ggcaaggtgg cagaagtcaa gaagaacgga agaatcagcc tggtgctggg cggagaccac
      361 agtttggcaa ttggaagcat ctctggccat gccagggtcc accctgatct tggagtcatc
      421 tgggtggatg ctcacactga tatcaacact ccactgacaa ccacaagtgg aaacttgcat
      481 ggacaacctg tatctttcct cctgaaggaa ctaaaaggaa agattcccga tgtgccagga
      541 ttctcctggg tgactccctg tatatctgcc aaggatattg tgtatattgg cttgagagac
      601 gtggaccctg gggaacacta cattttgaaa actctaggca ttaaatactt ttcaatgact
      661 gaagtggaca gactaggaat tggcaaggtg atggaagaaa cactcagcta tctactagga
      721 agaaagaaaa ggccaattca tctaagtttt gatgttgacg gactggaccc atctttcaca
      781 ccagctactg gcacaccagt cgtgggaggt ctgacataca gagaaggtct ctacatcaca
      841 gaagaaatct acaaaacagg gctactctca ggattagata taatggaagt gaacccatcc
      901 ctggggaaga caccagaaga agtaactcga acagtgaaca cagcagttgc aataaccttg
      961 gcttgtttcg gacttgctcg ggagggtaat cacaagccta ttgactacct taacccacct
     1021 aagtaaatgt ggaaacatcc gatataaatc tcatagttaa tggcataatt agaaagctaa
     1081 tcattttctt aagcatagag ttatccttct aaagacttgt tctttcagaa aaatgttttt
     1141 ccaattagta taaactctac aaattccctc ttggtgtaaa attcaagatg tggaaattct
     1201 aacttttttg aaatttaaaa gcttatattt tctaacttgg caaaagactt atccttagaa
     1261 agagaagtgt acattgattt ccaattaaaa atttgctggc attaaaaata agcacactta
     1321 cataagcccc catacataga gtgggactct tggaatcagg agacaaagct accacatgtg
     1381 gaaaggtact atgtgtccat gtcattcaaa aaatgtgatt ttttataata aactctttat
     1441 aacaaga
//
