LOCUS       NM_003465               2248 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens chitinase 1 (CHIT1), transcript variant 1, mRNA.
ACCESSION   NM_003465
VERSION     NM_003465.3
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 2248)
  AUTHORS   Yilmazer-Hanke,D., Ouali Alami,N., Fang,L., Klotz,S., Kovacs,G.G.,
            Pankratz,H., Weis,J., Katona,I., Scheuerle,A., Streit,W.J. and Del
            Tredici,K.
  TITLE     Differential Glial Chitotriosidase 1 and Chitinase 3-like Protein 1
            Expression in the Human Primary Visual Cortex and Cerebellum after
            Global Hypoxia-Ischemia
  JOURNAL   Neuroscience 506, 91-113 (2022)
   PUBMED   36332693
  REMARK    GeneRIF: Differential Glial Chitotriosidase 1 and Chitinase 3-like
            Protein 1 Expression in the Human Primary Visual Cortex and
            Cerebellum after Global Hypoxia-Ischemia.
REFERENCE   2  (bases 1 to 2248)
  AUTHORS   Topcu,D.B., Tugcu,G., Er,B., Polat,S.E., Hizal,M., Yalcin,E.E.,
            Ersoz,D.D., Coplu,L., Ozcelik,U., Kiper,N., Lay,I. and Oztas,Y.
  TITLE     Increased Plasma YKL-40 Level and Chitotriosidase Activity in
            Cystic Fibrosis Patients
  JOURNAL   Inflammation 45 (2), 627-638 (2022)
   PUBMED   34637032
  REMARK    GeneRIF: Increased Plasma YKL-40 Level and Chitotriosidase Activity
            in Cystic Fibrosis Patients.
REFERENCE   3  (bases 1 to 2248)
  AUTHORS   Majewski,S., Szewczyk,K., Jerczynska,H., Milkowska-Dymanowska,J.,
            Bialas,A.J., Gwadera,L. and Piotrowski,W.J.
  TITLE     Longitudinal and Comparative Measures of Serum Chitotriosidase and
            YKL-40 in Patients With Idiopathic Pulmonary Fibrosis
  JOURNAL   Front Immunol 13, 760776 (2022)
   PUBMED   35222369
  REMARK    GeneRIF: Longitudinal and Comparative Measures of Serum
            Chitotriosidase and YKL-40 in Patients With Idiopathic Pulmonary
            Fibrosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2248)
  AUTHORS   Ferrandez-Roldan,A., Fabrega-Torrus,M., Sanchez-Serna,G.,
            Duran-Bello,E., Joaquin-Lluis,M., Bujosa,P., Plana-Carmona,M.,
            Garcia-Fernandez,J., Albalat,R. and Canestro,C.
  TITLE     Cardiopharyngeal deconstruction and ancestral tunicate sessility
  JOURNAL   Nature 599 (7885), 431-435 (2021)
   PUBMED   34789899
  REMARK    GeneRIF: Cardiopharyngeal deconstruction and ancestral tunicate
            sessility.
REFERENCE   5  (bases 1 to 2248)
  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   6  (bases 1 to 2248)
  AUTHORS   Boot,R.G., Renkema,G.H., Verhoek,M., Strijland,A., Bliek,J., de
            Meulemeester,T.M., Mannens,M.M. and Aerts,J.M.
  TITLE     The human chitotriosidase gene. Nature of inherited enzyme
            deficiency
  JOURNAL   J Biol Chem 273 (40), 25680-25685 (1998)
   PUBMED   9748235
REFERENCE   7  (bases 1 to 2248)
  AUTHORS   Renkema,G.H., Boot,R.G., Au,F.L., Donker-Koopman,W.E.,
            Strijland,A., Muijsers,A.O., Hrebicek,M. and Aerts,J.M.
  TITLE     Chitotriosidase, a chitinase, and the 39-kDa human cartilage
            glycoprotein, a chitin-binding lectin, are homologues of family 18
            glycosyl hydrolases secreted by human macrophages
  JOURNAL   Eur J Biochem 251 (1-2), 504-509 (1998)
   PUBMED   9492324
REFERENCE   8  (bases 1 to 2248)
  AUTHORS   Eiberg,H. and Den Tandt,W.R.
  TITLE     Assignment of human plasma
            methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or
            chitinase to chromosome 1q by a linkage study
  JOURNAL   Hum Genet 101 (2), 205-207 (1997)
   PUBMED   9402970
REFERENCE   9  (bases 1 to 2248)
  AUTHORS   Boot,R.G., Renkema,G.H., Strijland,A., van Zonneveld,A.J. and
            Aerts,J.M.
  TITLE     Cloning of a cDNA encoding chitotriosidase, a human chitinase
            produced by macrophages
  JOURNAL   J Biol Chem 270 (44), 26252-26256 (1995)
   PUBMED   7592832
REFERENCE   10 (bases 1 to 2248)
  AUTHORS   Renkema,G.H., Boot,R.G., Muijsers,A.O., Donker-Koopman,W.E. and
            Aerts,J.M.
  TITLE     Purification and characterization of human chitotriosidase, a novel
            member of the chitinase family of proteins
  JOURNAL   J Biol Chem 270 (5), 2198-2202 (1995)
   PUBMED   7836450
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP304256.1, BC105682.1,
            AC105940.2 and BQ029424.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003465.2.
            
            Summary: Chitotriosidase is secreted by activated human macrophages
            and is markedly elevated in plasma of Gaucher disease patients. The
            expression of chitotriosidase occurs only at a late stage of
            differentiation of monocytes to activated macrophages in culture.
            Human macrophages can synthesize a functional chitotriosidase, a
            highly conserved enzyme with a strongly regulated expression. This
            enzyme may play a role in the degradation of chitin-containing
            pathogens. Several alternatively spliced transcript variants have
            been described for this gene. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and it encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data. A
            downstream translational start codon is selected for this RefSeq
            based on its better conservation in mammalian species and on the
            presence of a predicted signal peptide in the protein N-terminus.
            An upstream in-frame start codon is also present but is poorly
            conserved, and use of the upstream start codon would result in a
            protein that is 10 aa longer at the N-terminus and lacks a
            predicted signal peptide. Leaky scanning by ribosomes may allow
            translation initiation at the downstream start codon.
            
            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 :: AK314331.1, ERR279856.1896.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000367229.6/
                                                ENSP00000356198.1
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BP304256.1         60-84
            26-1570             BC105682.1         1-1545
            1571-1882           AC105940.2         157806-158117       c
            1883-2248           BQ029424.1         19-384              c
FEATURES             Location/Qualifiers
     source          1..2248
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2248
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /note="chitinase 1"
                     /db_xref="GeneID:1118"
                     /db_xref="HGNC:HGNC:1936"
                     /db_xref="MIM:600031"
     exon            1..62
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1438
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /EC_number="3.2.1.14"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; plasma methylumbelliferyl
                     tetra-N-acetylchitotetraoside hydrolase; chitinase 1
                     (chitotriosidase)"
                     /codon_start=1
                     /product="chitotriosidase-1 isoform 1 precursor"
                     /protein_id="NP_003456.1"
                     /db_xref="CCDS:CCDS1436.1"
                     /db_xref="GeneID:1118"
                     /db_xref="HGNC:HGNC:1936"
                     /db_xref="MIM:600031"
                     /translation="MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPK
                     DLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEFNGLKKMNPKLKTLLAIGGWNFG
                     TQKFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQ
                     DLANAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSW
                     EKVTGHNSPLYKRQEESGAAASLNVDAAVQQWLQKGTPASKLILGMPTYGRSFTLASS
                     SDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGF
                     DDVESFKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQELSLPYLPS
                     GTPELEVPKPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAAGRLFQQSC
                     PTGLVFSNSCKCCTWN"
     exon            63..92
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            93..294
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            295..351
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            352..517
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            518..642
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            643..766
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            767..952
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            953..1066
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1193
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..2248
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1633..1638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /note="hexamer: AATAAA"
     polyA_site      1665
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /note="major polyA site"
     regulatory      2228..2233
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /note="hexamer: AATAAA"
     polyA_site      2248
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
ORIGIN      
        1 ggtttgtatg ggctgcagcc tgccgctgag ctgcatcatg gtgcggtctg tggcctgggc
       61 aggtttcatg gtcctgctga tgatcccatg gggctctgct gcaaaactgg tctgctactt
      121 caccaactgg gcccagtaca gacaggggga ggctcgcttc ctgcccaagg acttggaccc
      181 cagcctttgc acccacctca tctacgcctt cgctggcatg accaaccacc agctgagcac
      241 cactgagtgg aatgacgaga ctctctacca ggagttcaat ggcctgaaga agatgaatcc
      301 caagctgaag accctgttag ccatcggagg ctggaatttc ggcactcaga agttcacaga
      361 tatggtagcc acggccaaca accgtcagac ctttgtcaac tcggccatca ggtttctgcg
      421 caaatacagc tttgacggcc ttgaccttga ctgggagtac ccaggaagcc aggggagccc
      481 tgccgtagac aaggagcgct tcacaaccct ggtacaggac ttggccaatg ccttccagca
      541 ggaagcccag acctcaggga aggaacgcct tcttctgagt gcagcggttc cagctgggca
      601 gacctatgtg gatgctggat acgaggtgga caaaatcgcc cagaacctgg attttgtcaa
      661 ccttatggcc tacgacttcc atggctcttg ggagaaggtc acgggacata acagccccct
      721 ctacaagagg caagaagaga gtggtgcagc agccagcctc aacgtggatg ctgctgtgca
      781 acagtggctg cagaagggga cccctgccag caagctgatc cttggcatgc ctacctacgg
      841 acgctccttc acactggcct cctcatcaga caccagagtg ggggccccag ccacagggtc
      901 tggcactcca ggccccttca ccaaggaagg agggatgctg gcctactatg aagtctgctc
      961 ctggaagggg gccaccaaac agagaatcca ggatcagaag gtgccctaca tcttccggga
     1021 caaccagtgg gtgggctttg atgatgtgga gagcttcaaa accaaggtca gctatctgaa
     1081 gcagaaggga ctgggcgggg ccatggtctg ggcactggac ttagatgact ttgccggctt
     1141 ctcctgcaac cagggccgat accccctcat ccagacgcta cggcaggaac tgagtcttcc
     1201 atacttgcct tcaggcaccc cagagcttga agttccaaaa ccaggtcagc cctctgaacc
     1261 tgagcatggc cccagccctg gacaagacac gttctgccag ggcaaagctg atgggctcta
     1321 tcccaatcct cgggaacggt ccagcttcta cagctgtgca gcggggcggc tgttccagca
     1381 aagctgcccg acaggcctgg tgttcagcaa ctcctgcaaa tgctgcacct ggaattgagt
     1441 cgctaaagcc cctccagtcc cagctttgag gctgggccca ggatcactct acagcctgcc
     1501 tcctgggttt tccctggggg ccgcaatctg gctcctgcag gcctttctgt ggtcttcctt
     1561 tatccaggct ttctgctctc agccttgcct tccttttttc tgggtctcct gggctgcccc
     1621 tttcacttgc aaaataaatc tttggtttgt gcccctcttc ccaaagatgt ggtgacttaa
     1681 gaggctctct aagcacactg ttgactccaa aacatccgca ggtcagagcc aggtgggaag
     1741 gtggtccgtg caggatgtgc caggccctgt ggcaggtctt gccccatgag tccatatgcc
     1801 agtgggcagt ttccagtaca caggtgatgg cagccagagc gcggccccaa gtgcaacacg
     1861 ttctttggtt attggctcag aagcctggaa acaggagctt ctgcggacct tcacgcacgt
     1921 gttattccca aaatgccact agatggcagc agagaagaac ttttccctga tttaagcgct
     1981 ctgcgagcag ccactcagca ttacactaag aattcagacc cctggtactc aggggtcttc
     2041 gagataaatc ctgtttgggc cctttgcagg ccctatctca cctactgccc ccgttcacca
     2101 gatgaagaag gaacaatgat tattctcact ttataggcat ttaaactgaa gactgattct
     2161 aaccaattct gagtccagaa ccaaggcctg aaatgggcca gagagcatgc acacggtgtc
     2221 ctggttaaat aaagtcatcc caacattc
//
