LOCUS       NM_033440                916 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens chymotrypsin like elastase 2A (CELA2A), mRNA.
ACCESSION   NM_033440
VERSION     NM_033440.3
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 916)
  AUTHORS   Motta,J.P., Rolland,C., Edir,A., Florence,A.C., Sagnat,D.,
            Bonnart,C., Rousset,P., Guiraud,L., Quaranta-Nicaise,M., Mas,E.,
            Bonnet,D., Verdu,E.F., McKay,D.M., Buscail,E., Alric,L.,
            Vergnolle,N. and Deraison,C.
  TITLE     Epithelial production of elastase is increased in inflammatory
            bowel disease and causes mucosal inflammation
  JOURNAL   Mucosal Immunol 14 (3), 667-678 (2021)
   PUBMED   33674762
  REMARK    GeneRIF: Epithelial production of elastase is increased in
            inflammatory bowel disease and causes mucosal inflammation.
REFERENCE   2  (bases 1 to 916)
  AUTHORS   Esteghamat,F., Broughton,J.S., Smith,E., Cardone,R., Tyagi,T.,
            Guerra,M., Szabo,A., Ugwu,N., Mani,M.V., Azari,B., Kayingo,G.,
            Chung,S., Fathzadeh,M., Weiss,E., Bender,J., Mane,S., Lifton,R.P.,
            Adeniran,A., Nathanson,M.H., Gorelick,F.S., Hwa,J., Sahin-Toth,M.,
            Belfort-DeAguiar,R., Kibbey,R.G. and Mani,A.
  TITLE     CELA2A mutations predispose to early-onset atherosclerosis and
            metabolic syndrome and affect plasma insulin and platelet
            activation
  JOURNAL   Nat Genet 51 (8), 1233-1243 (2019)
   PUBMED   31358993
  REMARK    GeneRIF: CELA2A mutations resulting in high serum level is
            associated with early-onset atherosclerosis and metabolic syndrome.
REFERENCE   3  (bases 1 to 916)
  AUTHORS   Szabo,A., Pilsak,C., Bence,M., Witt,H. and Sahin-Toth,M.
  TITLE     Complex Formation of Human Proelastases with Procarboxypeptidases
            A1 and A2
  JOURNAL   J Biol Chem 291 (34), 17706-17716 (2016)
   PUBMED   27358403
  REMARK    GeneRIF: Complex Formation of Human Proelastases with
            Procarboxypeptidases A1 and A2.
REFERENCE   4  (bases 1 to 916)
  AUTHORS   Kerns,S.L., Ostrer,H., Stock,R., Li,W., Moore,J., Pearlman,A.,
            Campbell,C., Shao,Y., Stone,N., Kusnetz,L. and Rosenstein,B.S.
  TITLE     Genome-wide association study to identify single nucleotide
            polymorphisms (SNPs) associated with the development of erectile
            dysfunction in African-American men after radiotherapy for prostate
            cancer
  JOURNAL   Int J Radiat Oncol Biol Phys 78 (5), 1292-1300 (2010)
   PUBMED   20932654
REFERENCE   5  (bases 1 to 916)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 916)
  AUTHORS   Friess,H., Ding,J., Kleeff,J., Liao,Q., Berberat,P.O., Hammer,J.
            and Buchler,M.W.
  TITLE     Identification of disease-specific genes in chronic pancreatitis
            using DNA array technology
  JOURNAL   Ann Surg 234 (6), 769-78 (2001)
   PUBMED   11729383
REFERENCE   7  (bases 1 to 916)
  AUTHORS   Moulard,M., Michon,T., Kerfelec,B. and Chapus,C.
  TITLE     Further studies on the human pancreatic binary complexes involving
            procarboxypeptidase A
  JOURNAL   FEBS Lett 261 (1), 179-183 (1990)
   PUBMED   2307232
REFERENCE   8  (bases 1 to 916)
  AUTHORS   Shirasu,Y., Yoshida,H., Matsuki,S., Takemura,K., Ikeda,N.,
            Shimada,Y., Ozawa,T., Mikayama,T., Iijima,H., Ishida,A. et al.
  TITLE     Molecular cloning and expression in Escherichia coli of a cDNA
            encoding human pancreatic elastase 2
  JOURNAL   J Biochem 102 (6), 1555-1563 (1987)
   PUBMED   2834346
REFERENCE   9  (bases 1 to 916)
  AUTHORS   Fletcher,T.S., Shen,W.F. and Largman,C.
  TITLE     Primary structure of human pancreatic elastase 2 determined by
            sequence analysis of the cloned mRNA
  JOURNAL   Biochemistry 26 (23), 7256-7261 (1987)
   PUBMED   3427074
REFERENCE   10 (bases 1 to 916)
  AUTHORS   Kawashima,I., Tani,T., Shimoda,K. and Takiguchi,Y.
  TITLE     Characterization of pancreatic elastase II cDNAs: two elastase II
            mRNAs are expressed in human pancreas
  JOURNAL   DNA 6 (2), 163-172 (1987)
   PUBMED   3646943
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007031.1 and BQ787677.1.
            
            On Nov 22, 2018 this sequence version replaced NM_033440.2.
            
            Summary: Elastases form a subfamily of serine proteases that
            hydrolyze many proteins in addition to elastin. Humans have six
            elastase genes which encode the structurally similar proteins
            elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human
            elastases, elastase 2A is secreted from the pancreas as a zymogen.
            In other species, elastase 2A has been shown to preferentially
            cleave proteins after leucine, methionine, and phenylalanine
            residues. [provided by RefSeq, May 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 :: AK312198.1, BC007031.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359621.5/ ENSP00000352639.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-913               BC007031.1         4-916
            914-916             BQ787677.1         15-17               c
FEATURES             Location/Qualifiers
     source          1..916
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..916
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /note="chymotrypsin like elastase 2A"
                     /db_xref="GeneID:63036"
                     /db_xref="HGNC:HGNC:24609"
                     /db_xref="MIM:609443"
     exon            1..62
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..832
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /EC_number="3.4.21.71"
                     /note="pancreatic elastase 2; elastase 2A; pancreatic
                     elastase IIA; chymotrypsin like elastase family member 2A"
                     /codon_start=1
                     /product="chymotrypsin-like elastase family member 2A
                     preproprotein"
                     /protein_id="NP_254275.1"
                     /db_xref="CCDS:CCDS157.1"
                     /db_xref="GeneID:63036"
                     /db_xref="HGNC:HGNC:24609"
                     /db_xref="MIM:609443"
                     /translation="MIRTLLLSTLVAGALSCGDPTYPPYVTRVVGGEEARPNSWPWQV
                     SLQYSSNGKWYHTCGGSLIANSWVLTAAHCISSSRTYRVGLGRHNLYVAESGSLAVSV
                     SKIVVHKDWNSNQISKGNDIALLKLANPVSLTDKIQLACLPPAGTILPNNYPCYVTGW
                     GRLQTNGAVPDVLQQGRLLVVDYATCSSSAWWGSSVKTSMICAGGDGVISSCNGDSGG
                     PLNCQASDGRWQVHGIVSFGSRLGCNYYHKPSVFTRVSNYIDWINSVIANN"
     exon            63..151
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            152..249
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            250..378
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            379..515
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            516..661
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            662..814
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..916
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      892..897
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /note="hexamer: AATAAA"
     polyA_site      916
                     /gene="CELA2A"
                     /gene_synonym="AOMS4; ELA2A; PE-1"
                     /note="major polyA site"
ORIGIN      
        1 acagaactcc cacggacaca ccatgataag gacgctgctg ctgtccactt tggtggctgg
       61 agccctcagt tgtggggacc ccacttaccc accttatgtg actagggtgg ttggcggtga
      121 agaagcgagg cccaacagct ggccctggca ggtctccctg cagtacagct ccaatggcaa
      181 gtggtaccac acctgcggag ggtccctgat agccaacagc tgggtcctga cggctgccca
      241 ctgcatcagc tcctccagga cctaccgcgt ggggctgggc cggcacaacc tctacgttgc
      301 ggagtccggc tcgctggcag tcagtgtctc taagattgtg gtgcacaagg actggaactc
      361 caaccaaatc tccaaaggga acgacattgc cctgctcaaa ctggctaacc ccgtctccct
      421 caccgacaag atccagctgg cctgcctccc tcctgccggc accattctac ccaacaacta
      481 cccctgctac gtcacgggct ggggaaggct gcagaccaac ggggctgttc ctgatgtcct
      541 gcagcagggc cggttgctgg ttgtggacta tgccacctgc tccagctctg cctggtgggg
      601 cagcagcgtg aaaaccagta tgatctgtgc tgggggtgat ggcgtgatct ccagctgcaa
      661 cggagactct ggcgggccac tgaactgtca ggcgtctgac ggccggtggc aggtgcacgg
      721 catcgtcagc ttcgggtctc gcctcggctg caactactac cacaagccct ccgtcttcac
      781 gcgggtctcc aattacatcg actggatcaa ttcggtgatt gcaaataact aaccaaaaga
      841 agtccctggg actgtttcag acttggaaag gtcacagaag gaaaataata taataaagtg
      901 acaactatgc aaatca
//
