LOCUS       NP_003456                466 aa            linear   PRI 02-APR-2024
DEFINITION  chitotriosidase-1 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_003456
VERSION     NP_003456.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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  (residues 1 to 466)
  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 (residues 1 to 466)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..466
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     Protein         1..466
                     /product="chitotriosidase-1 isoform 1 precursor"
                     /EC_number="3.2.1.14"
                     /note="plasma methylumbelliferyl
                     tetra-N-acetylchitotetraoside hydrolase; chitinase 1
                     (chitotriosidase)"
                     /calculated_mol_wt=49377
     sig_peptide     1..21
                     /note="/evidence=ECO:0000269|PubMed:7836450; propagated
                     from UniProtKB/Swiss-Prot (Q13231.1)"
                     /calculated_mol_wt=2323
     mat_peptide     22..466
                     /product="Chitotriosidase-1. /id=PRO_0000011941"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13231.1)"
                     /calculated_mol_wt=49377
     Region          24..385
                     /region_name="GH18_chitolectin_chitotriosidase"
                     /note="This conserved domain family includes a large
                     number of catalytically inactive chitinase-like lectins
                     (chitolectins) including YKL-39, YKL-40 (HCGP39), YM1,
                     oviductin, and AMCase (acidic mammalian chitinase), as
                     well as catalytically active...; cd02872"
                     /db_xref="CDD:119351"
     Site            order(27,31,99..100,138,140..141,186..187,210,212..213,
                     218,267,269,297,358)
                     /site_type="active"
                     /db_xref="CDD:119351"
     Site            100
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine, in variant S-102.
                     /evidence=ECO:0000269|PubMed:19725875; propagated from
                     UniProtKB/Swiss-Prot (Q13231.1)"
     Region          392..424
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13231.1)"
     Region          419..466
                     /region_name="ChtBD2"
                     /note="Chitin-binding domain type 2; smart00494"
                     /db_xref="CDD:214696"
     CDS             1..466
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /coded_by="NM_003465.3:38..1438"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS1436.1"
                     /db_xref="GeneID:1118"
                     /db_xref="HGNC:HGNC:1936"
                     /db_xref="MIM:600031"
ORIGIN      
        1 mvrsvawagf mvllmipwgs aaklvcyftn waqyrqgear flpkdldpsl cthliyafag
       61 mtnhqlstte wndetlyqef nglkkmnpkl ktllaiggwn fgtqkftdmv atannrqtfv
      121 nsairflrky sfdgldldwe ypgsqgspav dkerfttlvq dlanafqqea qtsgkerlll
      181 saavpagqty vdagyevdki aqnldfvnlm aydfhgswek vtghnsplyk rqeesgaaas
      241 lnvdaavqqw lqkgtpaskl ilgmptygrs ftlasssdtr vgapatgsgt pgpftkeggm
      301 layyevcswk gatkqriqdq kvpyifrdnq wvgfddvesf ktkvsylkqk glggamvwal
      361 dlddfagfsc nqgrypliqt lrqelslpyl psgtpelevp kpgqpsepeh gpspgqdtfc
      421 qgkadglypn prerssfysc aagrlfqqsc ptglvfsnsc kcctwn
//
