2024-04-19 12:15:36, 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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.