LOCUS       NM_201653               1696 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens chitinase acidic (CHIA), transcript variant 4, mRNA.
ACCESSION   NM_201653
VERSION     NM_201653.4
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 1696)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1696)
  AUTHORS   Hasby Saad,M.A., Watany,M., Tomoum,M., El-Mehy,D., Elsheikh,M. and
            Sharshar,R.
  TITLE     Acidic mammalian chitinase tuning after enteric helminths
            eradication in inflammatory respiratory disease patients
  JOURNAL   Parasite Immunol 40 (11), e12583 (2018)
   PUBMED   30117166
  REMARK    GeneRIF: AMCase expression was significantly higher in
            helminths-infected patients than the noninfected, or protozoa
            infected.
REFERENCE   3  (bases 1 to 1696)
  AUTHORS   Zhu,Y., Yan,X., Zhai,C., Yang,L. and Li,M.
  TITLE     Association between risk of asthma and gene polymorphisms in CHI3L1
            and CHIA: a systematic meta-analysis
  JOURNAL   BMC Pulm Med 17 (1), 193 (2017)
   PUBMED   29233108
  REMARK    GeneRIF: rs10494132 polymorphism of CHIA might be a risk factor for
            asthma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1696)
  AUTHORS   Acevedo,N., Bornacelly,A., Mercado,D., Unneberg,P., Mittermann,I.,
            Valenta,R., Kennedy,M., Scheynius,A. and Caraballo,L.
  TITLE     Genetic Variants in CHIA and CHI3L1 Are Associated with the IgE
            Response to the Ascaris Resistance Marker ABA-1 and the Birch
            Pollen Allergen Bet v 1
  JOURNAL   PLoS One 11 (12), e0167453 (2016)
   PUBMED   27977724
  REMARK    GeneRIF: This is the first report on the association between
            low-frequency and common variants in the chitinases-related genes
            CHIA and CHI3L1 with the intensity of specific IgE to ABA-1 in a
            population naturally exposed to Ascaris and with Bet v 1 in a
            Swedish population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1696)
  AUTHORS   Okawa,K., Ohno,M., Kashimura,A., Kimura,M., Kobayashi,Y.,
            Sakaguchi,M., Sugahara,Y., Kamaya,M., Kino,Y., Bauer,P.O. and
            Oyama,F.
  TITLE     Loss and Gain of Human Acidic Mammalian Chitinase Activity by
            Nonsynonymous SNPs
  JOURNAL   Mol Biol Evol 33 (12), 3183-3193 (2016)
   PUBMED   27702777
  REMARK    GeneRIF: we showed that M at the position 61 is highly conserved in
            the many mammals other than orangutan and humans. In addition,
            introduction of M61R and M61I to WT mouse AMCase lead to a
            significant reduction of its chitinolytic activity. Taken together,
            our present and previous data by Seibold et al. (2009) indicate
            that G339T (R61M) in humans is associated with asthma protection in
            the fashion of gain of function
REFERENCE   6  (bases 1 to 1696)
  AUTHORS   Chou,Y.T., Yao,S., Czerwinski,R., Fleming,M., Krykbaev,R., Xuan,D.,
            Zhou,H., Brooks,J., Fitz,L., Strand,J., Presman,E., Lin,L.,
            Aulabaugh,A. and Huang,X.
  TITLE     Kinetic characterization of recombinant human acidic mammalian
            chitinase
  JOURNAL   Biochemistry 45 (14), 4444-4454 (2006)
   PUBMED   16584180
  REMARK    GeneRIF: human AMCase has only one pH optimum for k(cat)/K(m)
            between pH 4 and 5. Steady state kinetics shows that human AMCase
            has 'low' intrinsic transglycosidase activity, which leads to the
            observation of apparent substrate inhibition.
REFERENCE   7  (bases 1 to 1696)
  AUTHORS   Zhu,Z., Zheng,T., Homer,R.J., Kim,Y.K., Chen,N.Y., Cohn,L.,
            Hamid,Q. and Elias,J.A.
  TITLE     Acidic mammalian chitinase in asthmatic Th2 inflammation and IL-13
            pathway activation
  JOURNAL   Science 304 (5677), 1678-1682 (2004)
   PUBMED   15192232
  REMARK    GeneRIF: expressed in exaggerated quantities in human asthma
REFERENCE   8  (bases 1 to 1696)
  AUTHORS   Goto,M., Fujimoto,W., Nio,J., Iwanaga,T. and Kawasaki,T.
  TITLE     Immunohistochemical demonstration of acidic mammalian chitinase in
            the mouse salivary gland and gastric mucosa
  JOURNAL   Arch Oral Biol 48 (10), 701-707 (2003)
   PUBMED   12971947
REFERENCE   9  (bases 1 to 1696)
  AUTHORS   Boot,R.G., Blommaart,E.F., Swart,E., Ghauharali-van der Vlugt,K.,
            Bijl,N., Moe,C., Place,A. and Aerts,J.M.
  TITLE     Identification of a novel acidic mammalian chitinase distinct from
            chitotriosidase
  JOURNAL   J Biol Chem 276 (9), 6770-6778 (2001)
   PUBMED   11085997
REFERENCE   10 (bases 1 to 1696)
  AUTHORS   Saito,A., Ozaki,K., Fujiwara,T., Nakamura,Y. and Tanigami,A.
  TITLE     Isolation and mapping of a human lung-specific gene, TSA1902,
            encoding a novel chitinase family member
  JOURNAL   Gene 239 (2), 325-331 (1999)
   PUBMED   10548734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL513202.22, AK290702.1,
            AB025008.1, AF290004.1 and BC036339.1.
            
            On Nov 23, 2018 this sequence version replaced NM_201653.3.
            
            Summary: The protein encoded by this gene degrades chitin, which is
            found in the cell wall of most fungi as well as in arthropods and
            some nematodes. The encoded protein can also stimulate interleukin
            13 expression, and variations in this gene can lead to asthma
            susceptibility. Several transcript variants encoding a few
            different isoforms have been found for this gene. [provided by
            RefSeq, Apr 2012].
            
            Transcript Variant: This variant (4) represents the longest
            transcript and encodes the longest isoform (c). Version 1 of this
            RefSeq represented a distinct variant (1) encoding a different
            isoform (a).
            
            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 :: AF290004.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369740.6/ ENSP00000358755.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL513202.22        71202-71202
            2-19                AK290702.1         1-18
            20-65               AB025008.1         9-54
            66-383              AF290004.1         1-318
            384-384             AL513202.22        92701-92701
            385-1690            AF290004.1         320-1625
            1691-1696           BC036339.1         1303-1308
FEATURES             Location/Qualifiers
     source          1..1696
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..1696
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /note="chitinase acidic"
                     /db_xref="GeneID:27159"
                     /db_xref="HGNC:HGNC:17432"
                     /db_xref="MIM:606080"
     exon            1..100
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            101..193
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..1599
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /EC_number="3.2.1.14"
                     /note="isoform c precursor is encoded by transcript
                     variant 4; acidic mammalian chitinase; lung-specific
                     protein TSA1902"
                     /codon_start=1
                     /product="acidic mammalian chitinase isoform c precursor"
                     /protein_id="NP_970615.2"
                     /db_xref="CCDS:CCDS41368.1"
                     /db_xref="GeneID:27159"
                     /db_xref="HGNC:HGNC:17432"
                     /db_xref="MIM:606080"
                     /translation="MTKLILLTGLVLILNLQLGSAYQLTCYFTNWAQYRPGLGRFMPD
                     NIDPCLCTHLIYAFAGRQNNEITTIEWNDVTLYQAFNGLKNKNSQLKTLLAIGGWNFG
                     TAPFTAMVSTPENRQTFITSVIKFLRQYEFDGLDFDWEYPGSRGSPPQDKHLFTVLVQ
                     EMREAFEQEAKQINKPRLMVTAAVAAGISNIQSGYEIPQLSQYLDYIHVMTYDLHGSW
                     EGYTGENSPLYKYPTDTGSNAYLNVDYVMNYWKDNGAPAEKLIVGFPTYGHNFILSNP
                     SNTGIGAPTSGAGPAGPYAKESGIWAYYEICTFLKNGATQGWDAPQEVPYAYQGNVWV
                     GYDNIKSFDIKAQWLKHNKFGGAMVWAIDLDDFTGTFCNQGKFPLISTLKKALGLQSA
                     SCTAPAQPIEPITAAPSGSGNGSGSSSSGGSSGGSGFCAVRANGLYPVANNRNAFWHC
                     VNGVTYQQNCQAGLVFDTSCDCCNWA"
     exon            194..223
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            224..425
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            426..482
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            483..648
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            649..773
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            774..897
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1083
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1203
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1345
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1696
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1675..1680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /note="hexamer: AATAAA"
     polyA_site      1696
                     /gene="CHIA"
                     /gene_synonym="AMCASE; CHIT2; TSA1902"
                     /note="major polyA site"
ORIGIN      
        1 caaagcttca tgaaacctcc tcgtctgtgc acgaacaggt ggccgactct ggagcccagg
       61 ctgttgcttt ccagtctggt ggtgaatcct ccatagtctg aagcctttgt gataaccaca
      121 gaatcagaac atataaaaag ctctgcggga ctggtgctga ctgcaaccat gacaaagctt
      181 attctcctca caggtcttgt ccttatactg aatttgcagc tcggctctgc ctaccagctg
      241 acatgctact tcaccaactg ggcccagtac cggccaggcc tggggcgctt catgcctgac
      301 aacatcgacc cctgcctctg tacccacctg atctacgcct ttgctgggag gcagaacaac
      361 gagatcacca ccatcgaatg gaatgatgtg actctctacc aagctttcaa tggcctgaaa
      421 aataagaaca gccagctgaa aactctcctg gccattggag gctggaactt cgggactgcc
      481 cctttcactg ccatggtttc tactcctgag aaccgccaga ctttcatcac ctcagtcatc
      541 aaattcctgc gccagtatga gtttgacggg ctggactttg actgggagta ccctggctct
      601 cgtgggagcc ctcctcagga caagcatctc ttcactgtcc tggtgcagga aatgcgtgaa
      661 gcttttgagc aggaggccaa gcagatcaac aagcccaggc tgatggtcac tgctgcagta
      721 gctgctggca tctccaatat ccagtctggc tatgagatcc cccaactgtc acagtacctg
      781 gactacatcc atgtcatgac ctacgacctc catggctcct gggagggcta cactggagag
      841 aacagccccc tctacaaata cccgactgac accggcagca acgcctacct caatgtggat
      901 tatgtcatga actactggaa ggacaatgga gcaccagctg agaagctcat cgttggattc
      961 cctacctatg gacacaactt catcctgagc aacccctcca acactggaat tggtgccccc
     1021 acctctggtg ctggtcctgc tgggccctat gccaaggagt ctgggatctg ggcttactac
     1081 gagatctgta ccttcctgaa aaatggagcc actcagggat gggatgcccc tcaggaagtg
     1141 ccttatgcct atcagggcaa tgtgtgggtt ggctatgaca acatcaagag cttcgatatt
     1201 aaggctcaat ggcttaagca caacaaattt ggaggcgcca tggtctgggc cattgatctg
     1261 gatgacttca ctggcacttt ctgcaaccag ggcaagtttc ccctaatctc caccctgaag
     1321 aaggccctcg gcctgcagag tgcaagttgc acggctccag ctcagcccat tgagccaata
     1381 actgctgctc ccagtggcag cgggaacggg agcgggagta gcagctctgg aggcagctcg
     1441 ggaggcagtg gattctgtgc tgtcagagcc aacggcctct accccgtggc aaataacaga
     1501 aatgccttct ggcactgcgt gaatggagtc acgtaccagc agaactgcca ggccgggctt
     1561 gtcttcgaca ccagctgtga ttgctgcaac tgggcataaa cctgacctgg tctatattcc
     1621 ctagagttcc agtctctttt gcttaggaca tgttgcccct acctaaagtc ctgcaataaa
     1681 atcagcagtc aaaaca
//
