2024-04-20 23:48:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256125 2268 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 2, mRNA. ACCESSION NM_001256125 VERSION NM_001256125.1 GI:371122557 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 2268) 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 2268) 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 2268) 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 2268) 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 2268) 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 2268) 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 2268) 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 2268) 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 2268) 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 2268) 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, AK055165.1, AI697695.1, 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 (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter, compared to isoform 1. Sequence Note: 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 :: AK055165.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084, ERS025086 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-61 BP304256.1 1-61 62-1363 AK055165.1 2-1303 1364-1663 AI697695.1 1-300 c 1664-2046 BX096812.1 11-393 2047-2268 BQ029424.1 1-222 c FEATURES Location/Qualifiers source 1..2268 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q32.1" gene 1..2268 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /note="chitinase 1 (chitotriosidase)" /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" STS 85..1572 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /db_xref="UniSTS:482587" STS 85..1492 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /db_xref="UniSTS:480795" CDS 97..1440 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /EC_number="3.2.1.14" /note="isoform 2 precursor is encoded by transcript variant 2; plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase" /codon_start=1 /product="chitotriosidase-1 isoform 2 precursor" /protein_id="NP_001243054.2" /db_xref="GI:388890228" /db_xref="CCDS:CCDS58057.1" /db_xref="GeneID:1118" /db_xref="HGNC:1936" /db_xref="MIM:600031" /translation="
MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEFNGLKKMFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQDLANAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAASLNVDAAVQQWLQKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVESFKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQELSLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAAGRLFQQSCPTGLVFSNSCKCCTWN
" sig_peptide 97..159 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" mat_peptide 160..1437 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /product="chitotriosidase-1 isoform 2" misc_feature 163..1128 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /note="Glyco_18 domain; Region: Glyco_18; smart00636" /db_xref="CDD:197811" misc_feature 166..1194 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /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...; Region: GH18_chitolectin_chitotriosidase; cd02872" /db_xref="CDD:119351" misc_feature order(175..177,187..189,451..453,457..462,595..600, 667..669,673..678,691..693,838..840,844..846,928..930, 1111..1113) /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /note="active site" /db_xref="CDD:119351" misc_feature 1294..1437 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /note="Chitin-binding domain type 2; Region: ChtBD2; smart00494" /db_xref="CDD:197759" 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..519 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" exon 520..644 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" exon 645..768 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" exon 769..954 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" exon 955..1068 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" exon 1069..1195 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" exon 1196..2250 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /inference="alignment:Splign:1.39.8" variation 1364 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1065761" STS 1424..1574 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /standard_name="G29124" /db_xref="UniSTS:1451" STS 1477..1656 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /standard_name="SHGC-76163" /db_xref="UniSTS:52989" STS 1478..1656 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" /standard_name="RH81001" /db_xref="UniSTS:89622" polyA_signal 1635..1640 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" polyA_site 1667 /gene="CHIT1" /gene_synonym="CHI3; CHIT; CHITD" ORIGIN
actcctggctggggtgggacagggtggccagataaaagcagagcaggacctggaaagctggtttgtatgggctgcagcctgccgctgagctgcatcatggtgcggtctgtggcctgggcaggtttcatggtcctgctgatgatcccatggggctctgctgcaaaactggtctgctacttcaccaactgggcccagtacagacagggggaggctcgcttcctgcccaaggacttggaccccagcctttgcacccacctcatctacgccttcgctggcatgaccaaccaccagctgagcaccactgagtggaatgacgagactctctaccaggagttcaatggcctgaagaagatgttcacagatatggtagccacggccaacaaccgtcagacctttgtcaactcggccatcaggtttctgcgcaaatacagctttgacggccttgaccttgactgggagtacccaggaagccaggggagccctgccgtagacaaggagcgcttcacaaccctggtacaggacttggccaatgccttccagcaggaagcccagacctcagggaaggaacgccttcttctgagtgcagcggttccagctgggcagacctatgtggatgctggatacgaggtggacaaaatcgcccagaacctggattttgtcaaccttatggcctacgacttccatggctcttgggagaaggtcacgggacataacagccccctctacaagaggcaagaagagagtggtgcagcagccagcctcaacgtggatgctgctgtgcaacagtggctgcagaaggggacccctgccagcaagctgatccttggcatgcctacctacggacgctccttcacactggcctcctcatcagacaccagagtgggggccccagccacagggtctggcactccaggccccttcaccaaggaaggagggatgctggcctactatgaagtctgctcctggaagggggccaccaaacagagaatccaggatcagaaggtgccctacatcttccgggacaaccagtgggtgggctttgatgatgtggagagcttcaaaaccaaggtcagctatctgaagcagaagggactgggcggggccatggtctgggcactggacttagatgactttgccggcttctcctgcaaccagggccgataccccctcatccagacgctacggcaggaactgagtcttccatacttgccttcaggcaccccagagcttgaagttccaaaaccaggtcagccctctgaacctgagcatggccccagccctggacaagacacgttctgccagggcaaagctgatgggctctatcccaatcctcgggaacggtccagcttctacagctgtgcagcggggcggctgttccagcaaagctgcccgacaggcctggtgttcagcaactcctgcaaatgctgcacctggaattgagtcgctaaagcccctccagtcccagctttgaggctgggcccaggatcactctacagcctgcctcctgggttttccctgggggccgcaatctggctcctgcaggcctttctgtggtcttcctttatccaggctttctgctctcagccttgccttccttttttctgggtctcctgggctgcccctttcacttgcaaaataaatctttggtttgtgcccctcttcccaaagatgtggtgacttaagaggctctctaagcacactgttgactccaaaacatccgcaggtcagagccaggtgggaaggtggtccgtgcaggatgtgccaggccctgtggcaggtcttgccccatgagtccatatgccagtgggcagtttccagtacacaggtgatggcagccagagcgcggccccaagtgcaacacgttctttggttattggctcagaagcctggaaacaggagcttctgcggaccttcacgcacgtgttattcccaaaatgccactagatggcagcagagaagaacttttccctgatttaagcgctctgcgagcagccactcagcattacactaagaattcagacccctggtactcaggggtcttcgagataaatcctgtttgggccctttgcaggccctatctcacctactgcccccgttcaccagatgaagaaggaacaatgattattctcactttataggcatttaaactgaagactgattctaaccaattctgagtccagaaccaaggcctgaaatgggccagagagcatgcacacggtgtcctggttaaataaagtcatcccaacattcaaaaaaaaaaaaaaaaaa
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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 ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001243054 -> EC 3.2.1.14
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