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2024-03-29 07:44:32, GGRNA : RefSeq release 60 (20130726)

LOCUS       NR_045784               2553 bp    RNA     linear   PRI 16-JUL-2013
DEFINITION  Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript
            variant 3, non-coding RNA.
ACCESSION   NR_045784
VERSION     NR_045784.1  GI:371122776
KEYWORDS    RefSeq.
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 2553)
  AUTHORS   Gavala,M.L., Kelly,E.A., Esnault,S., Kukreja,S., Evans,M.D.,
            Bertics,P.J., Chupp,G.L. and Jarjour,N.N.
  TITLE     Segmental allergen challenge enhances chitinase activity and levels
            of CCL18 in mild atopic asthma
  JOURNAL   Clin. Exp. Allergy 43 (2), 187-197 (2013)
   PUBMED   23331560
  REMARK    GeneRIF: CCL18 and YKL-40 levels and CHIT1 activity are enhanced in
            allergic airway inflammation and thus may contribute to airway
            remodelling in asthma.
REFERENCE   2  (bases 1 to 2553)
  AUTHORS   Di Rosa,M., De Gregorio,C., Malaguarnera,G., Tuttobene,M.,
            Biazzo,F. and Malaguarnera,L.
  TITLE     Evaluation of AMCase and CHIT-1 expression in monocyte macrophages
            lineage
  JOURNAL   Mol. Cell. Biochem. 374 (1-2), 73-80 (2013)
   PUBMED   23129258
  REMARK    GeneRIF: results showed that the expression of AMCase and CHIT-1
            were differently modulated in monocyte macrophages at different
            stage of maturation. The behavior of these two active chitinase
            suggests that in the immune response their role is complementary.
REFERENCE   3  (bases 1 to 2553)
  AUTHORS   Bargagli,E., Bennett,D., Maggiorelli,C., Di Sipio,P.,
            Margollicci,M., Bianchi,N. and Rottoli,P.
  TITLE     Human chitotriosidase: a sensitive biomarker of sarcoidosis
  JOURNAL   J. Clin. Immunol. 33 (1), 264-270 (2013)
   PUBMED   22878841
  REMARK    GeneRIF: Serum CHIT concentrations are significantly higher in
            patients than in healthy controls and are directly correlated with
            angiotensin converting enzyme (ACE)levels.
REFERENCE   4  (bases 1 to 2553)
  AUTHORS   Juarez-Rendon,K.J., Lara-Aguilar,R.A. and Garcia-Ortiz,J.E.
  TITLE     [24-bp duplication on CHIT1 gene in Mexican population]
  JOURNAL   Rev Med Inst Mex Seguro Soc 50 (4), 375-377 (2012)
   PUBMED   23234739
  REMARK    GeneRIF: allelic and genotypic frequencies of the 24-bp Dup in
            CHIT1 gene in homozygotes and heterozygotes were in accordance to
            worldwide reports
REFERENCE   5  (bases 1 to 2553)
  AUTHORS   Fusetti,F., von Moeller,H., Houston,D., Rozeboom,H.J.,
            Dijkstra,B.W., Boot,R.G., Aerts,J.M. and van Aalten,D.M.
  TITLE     Structure of human chitotriosidase. Implications for specific
            inhibitor design and function of mammalian chitinase-like lectins
  JOURNAL   J. Biol. Chem. 277 (28), 25537-25544 (2002)
   PUBMED   11960986
REFERENCE   6  (bases 1 to 2553)
  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 2553)
  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 2553)
  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 2553)
  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 2553)
  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, AK309341.1,
            BP297140.1, BX099272.1, BX096812.1 and BQ029424.1.
            
            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 (3) contains two additional exons
            in the 3' region, compared to variant 1. This variant is
            represented as non-coding because the use of the 5'-most
            translational start codon, as used in variant 1, renders the
            transcript a candidate for nonsense-mediated mRNA decay (NMD).
            
            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.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-572               BP304256.1         1-572
            573-1000            AK309341.1         515-942
            1001-1243           BP297140.1         339-581
            1244-1666           AK309341.1         1186-1608
            1667-1952           BX099272.1         120-405
            1953-2331           BX096812.1         15-393
            2332-2553           BQ029424.1         1-222               c
FEATURES             Location/Qualifiers
     source          1..2553
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2553
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /note="chitinase 1 (chitotriosidase)"
                     /db_xref="GeneID:1118"
                     /db_xref="HGNC:1936"
                     /db_xref="MIM:600031"
     misc_RNA        1..2553
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /product="chitinase 1 (chitotriosidase), transcript
                     variant 3"
                     /db_xref="GeneID:1118"
                     /db_xref="HGNC:1936"
                     /db_xref="MIM:600031"
     exon            1..121
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    67..1182
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="COORDINATES:
                     alignment:Blast2seq::RefSeq|NM_003465.2"
                     /note="primary ORF has stop codon >50 nucleotides from the
                     terminal splice site; nonsense-mediated mRNA decay (NMD)
                     candidate"
     exon            122..151
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            152..353
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            354..410
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            411..576
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            577..701
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            702..825
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            826..1011
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            1012..1125
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            1126..1282
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            1283..1409
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            1410..1480
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     exon            1481..2535
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /inference="alignment:Splign:1.39.8"
     variation       1649
                     /gene="CHIT1"
                     /gene_synonym="CHI3; CHIT; CHITD"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1065761"
ORIGIN      


actcctggctggggtgggacagggtggccagataaaagcagagcaggacctggaaagctggtttgtatgggctgcagcctgccgctgagctgcatcatggtgcggtctgtggcctgggcaggtttcatggtcctgctgatgatcccatggggctctgctgcaaaactggtctgctacttcaccaactgggcccagtacagacagggggaggctcgcttcctgcccaaggacttggaccccagcctttgcacccacctcatctacgccttcgctggcatgaccaaccaccagctgagcaccactgagtggaatgacgagactctctaccaggagttcaatggcctgaagaagatgaatcccaagctgaagaccctgttagccatcggaggctggaatttcggcactcagaagttcacagatatggtagccacggccaacaaccgtcagacctttgtcaactcggccatcaggtttctgcgcaaatacagctttgacggccttgaccttgactgggagtacccaggaagccaggggagccctgccgtagacaaggagcgcttcacaaccctggtacaggacttggccaatgccttccagcaggaagcccagacctcagggaaggaacgccttcttctgagtgcagcggttccagctgggcagacctatgtggatgctggatacgaggtggacaaaatcgcccagaacctggattttgtcaaccttatggcctacgacttccatggctcttgggagaaggtcacgggacataacagccccctctacaagaggcaagaagagagtggtgcagcagccagcctcaacgtggatgctgctgtgcaacagtggctgcagaaggggacccctgccagcaagctgatccttggcatgcctacctacggacgctccttcacactggcctcctcatcagacaccagagtgggggccccagccacagggtctggcactccaggccccttcaccaaggaaggagggatgctggcctactatgaagtctgctcctggaagggggccaccaaacagagaatccaggatcagaaggtgccctacatcttccgggacaaccagtgggtgggctttgatgatgtggagagcttcaaaaccaaggtcatgcttacgttaagacaaggagactgcaaaatgactgatgtccaagcagcatgaggactcagcatccaggctcccagcccaaggctgtctccagaatctacagccactcacaggcctgaggctgctggagcaaaaagggccctgtccagaagaggtcagctatctgaagcagaagggactgggcggggccatggtctgggcactggacttagatgactttgccggcttctcctgcaaccagggccgataccccctcatccagacgctacggcaggaactgaatgggtaaagccttaactgcctgtcacatgtgaggccaggtgttgcctgtggcactgtgcttcagctgtaggtcttccatacttgccttcaggcaccccagagcttgaagttccaaaaccaggtcagccctctgaacctgagcatggccccagccctggacaagacacgttctgccagggcaaagctgatgggctctatcccaatcctcgggaacggtccagcttctacagctgtgcagcggggcggctgttccagcaaagctgcccgacaggcctggtgttcagcaactcctgcaaatgctgcacctggaattgagtcgctaaagcccctccagtcccagctttgaggctgggcccaggatcactctacagcctgcctcctgggttttccctgggggccgcaatctggctcctgcaggcctttctgtggtcttcctttatccaggctttctgctctcagccttgccttccttttttctgggtctcctgggctgcccctttcacttgcaaaataaatctttggtttgtgcccctcttcccaaagatgtggtgacttaagaggctctctaagcacactgttgactccaaaacatccgcaggtcagagccaggtgggaaggtggtccgtgcaggatgtgccaggccctgtggcaggtcttgccccatgagtccatatgccagtgggcagtttccagtacacaggtgatggcagccagagcgcggccccaagtgcaacacgttctttggttattggctcagaagcctggaaacaggagcttctgcggaccttcacgcacgtgttattcccaaaatgccactagatggcagcagagaagaacttttccctgatttaagcgctctgcgagcagccactcagcattacactaagaattcagacccctggtactcaggggtcttcgagataaatcctgtttgggccctttgcaggccctatctcacctactgcccccgttcaccagatgaagaaggaacaatgattattctcactttataggcatttaaactgaagactgattctaaccaattctgagtccagaaccaaggcctgaaatgggccagagagcatgcacacggtgtcctggttaaataaagtcatcccaacattcaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1118 -> Molecular function: GO:0004568 [chitinase activity] evidence: TAS
            GeneID:1118 -> Molecular function: GO:0008061 [chitin binding] evidence: TAS
            GeneID:1118 -> Molecular function: GO:0008843 [endochitinase activity] evidence: IDA
            GeneID:1118 -> Biological process: GO:0000272 [polysaccharide catabolic process] evidence: IEA
            GeneID:1118 -> Biological process: GO:0006032 [chitin catabolic process] evidence: IDA
            GeneID:1118 -> Biological process: GO:0006032 [chitin catabolic process] evidence: TAS
            GeneID:1118 -> Biological process: GO:0006955 [immune response] evidence: NAS
            GeneID:1118 -> Biological process: GO:0009617 [response to bacterium] evidence: TAS
            GeneID:1118 -> Cellular component: GO:0005615 [extracellular space] evidence: IC
            GeneID:1118 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
            GeneID:1118 -> Cellular component: GO:0005764 [lysosome] evidence: IEA

by @meso_cacase at DBCLS
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