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2025-10-29 10:34:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_045785 2396 bp RNA linear PRI 16-JUL-2013
DEFINITION Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript
variant 4, non-coding RNA.
ACCESSION NR_045785
VERSION NR_045785.1 GI:371122804
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 2396)
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 2396)
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 2396)
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 2396)
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 2396)
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 2396)
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 2396)
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 2396)
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 2396)
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 2396)
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, U62662.1,
BC105682.1, 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 (4) contains an additional exon 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
1-87 BP304256.1 1-87
88-1572 U62662.1 1-1485
1573-1700 BC105682.1 1418-1545
1701-1795 BX099272.1 311-405
1796-2174 BX096812.1 15-393
2175-2396 BQ029424.1 1-222 c
FEATURES Location/Qualifiers
source 1..2396
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q32.1"
gene 1..2396
/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..2396
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/product="chitinase 1 (chitotriosidase), transcript
variant 4"
/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..1252
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 1253..1323
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 1324..2378
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
variation 1492
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1065761"
ORIGIN
actcctggctggggtgggacagggtggccagataaaagcagagcaggacctggaaagctggtttgtatgggctgcagcctgccgctgagctgcatcatggtgcggtctgtggcctgggcaggtttcatggtcctgctgatgatcccatggggctctgctgcaaaactggtctgctacttcaccaactgggcccagtacagacagggggaggctcgcttcctgcccaaggacttggaccccagcctttgcacccacctcatctacgccttcgctggcatgaccaaccaccagctgagcaccactgagtggaatgacgagactctctaccaggagttcaatggcctgaagaagatgaatcccaagctgaagaccctgttagccatcggaggctggaatttcggcactcagaagttcacagatatggtagccacggccaacaaccgtcagacctttgtcaactcggccatcaggtttctgcgcaaatacagctttgacggccttgaccttgactgggagtacccaggaagccaggggagccctgccgtagacaaggagcgcttcacaaccctggtacaggacttggccaatgccttccagcaggaagcccagacctcagggaaggaacgccttcttctgagtgcagcggttccagctgggcagacctatgtggatgctggatacgaggtggacaaaatcgcccagaacctggattttgtcaaccttatggcctacgacttccatggctcttgggagaaggtcacgggacataacagccccctctacaagaggcaagaagagagtggtgcagcagccagcctcaacgtggatgctgctgtgcaacagtggctgcagaaggggacccctgccagcaagctgatccttggcatgcctacctacggacgctccttcacactggcctcctcatcagacaccagagtgggggccccagccacagggtctggcactccaggccccttcaccaaggaaggagggatgctggcctactatgaagtctgctcctggaagggggccaccaaacagagaatccaggatcagaaggtgccctacatcttccgggacaaccagtgggtgggctttgatgatgtggagagcttcaaaaccaaggtcagctatctgaagcagaagggactgggcggggccatggtctgggcactggacttagatgactttgccggcttctcctgcaaccagggccgataccccctcatccagacgctacggcaggaactgaatgggtaaagccttaactgcctgtcacatgtgaggccaggtgttgcctgtggcactgtgcttcagctgtaggtcttccatacttgccttcaggcaccccagagcttgaagttccaaaaccaggtcagccctctgaacctgagcatggccccagccctggacaagacacgttctgccagggcaaagctgatgggctctatcccaatcctcgggaacggtccagcttctacagctgtgcagcggggcggctgttccagcaaagctgcccgacaggcctggtgttcagcaactcctgcaaatgctgcacctggaattgagtcgctaaagcccctccagtcccagctttgaggctgggcccaggatcactctacagcctgcctcctgggttttccctgggggccgcaatctggctcctgcaggcctttctgtggtcttcctttatccaggctttctgctctcagccttgccttccttttttctgggtctcctgggctgcccctttcacttgcaaaataaatctttggtttgtgcccctcttcccaaagatgtggtgacttaagaggctctctaagcacactgttgactccaaaacatccgcaggtcagagccaggtgggaaggtggtccgtgcaggatgtgccaggccctgtggcaggtcttgccccatgagtccatatgccagtgggcagtttccagtacacaggtgatggcagccagagcgcggccccaagtgcaacacgttctttggttattggctcagaagcctggaaacaggagcttctgcggaccttcacgcacgtgttattcccaaaatgccactagatggcagcagagaagaacttttccctgatttaagcgctctgcgagcagccactcagcattacactaagaattcagacccctggtactcaggggtcttcgagataaatcctgtttgggccctttgcaggccctatctcacctactgcccccgttcaccagatgaagaaggaacaatgattattctcactttataggcatttaaactgaagactgattctaaccaattctgagtccagaaccaaggcctgaaatgggccagagagcatgcacacggtgtcctggttaaataaagtcatcccaacattcaaaaaaaaaaaaaaaaaa
//
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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