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2024-04-16 13:38:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001270509 2190 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript
variant 5, mRNA.
ACCESSION NM_001270509
VERSION NM_001270509.1 GI:395393998
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 2190)
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 2190)
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 2190)
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 2190)
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 2190)
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 2190)
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 2190)
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 2190)
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 2190)
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 2190)
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, AK225245.1,
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 (5) lacks an in-frame segment in
the 3' coding region, compared to variant 1. The resulting isoform
(3) is shorter, compared to isoform 1.
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 :: AK225245.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025084 [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##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-60 BP304256.1 1-60
61-1583 AK225245.1 1-1523
1584-1968 BX096812.1 9-393
1969-2190 BQ029424.1 1-222 c
FEATURES Location/Qualifiers
source 1..2190
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q32.1"
gene 1..2190
/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..1494
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/db_xref="UniSTS:482587"
STS 85..1414
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/db_xref="UniSTS:480795"
CDS 97..1362
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/EC_number="3.2.1.14"
/note="isoform 3 precursor is encoded by transcript
variant 5; plasma methylumbelliferyl
tetra-N-acetylchitotetraoside hydrolase"
/codon_start=1
/product="chitotriosidase-1 isoform 3 precursor"
/protein_id="NP_001257438.1"
/db_xref="GI:395393999"
/db_xref="GeneID:1118"
/db_xref="HGNC:1936"
/db_xref="MIM:600031"
/translation="
MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEFNGLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAASLNVDAAVQQWLQKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVESFKTKGRYPLIQTLRQELSLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAAGRLFQQSCPTGLVFSNSCKCCTWN
"
sig_peptide 97..159
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
mat_peptide 160..1359
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/product="chitotriosidase-1 isoform 3"
misc_feature 163..1086
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/note="Glyco_18 domain; Region: Glyco_18; smart00636"
/db_xref="CDD:197811"
misc_feature 166..1116
/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..189,391..396,508..510,514..519,
604..609,676..678,682..687,700..702,847..849,853..855,
937..939)
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/note="active site"
/db_xref="CDD:119351"
misc_feature 1216..1359
/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..410
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 411..539
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 540..653
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 654..777
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 778..963
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 964..1077
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 1078..1117
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
exon 1118..2172
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/inference="alignment:Splign:1.39.8"
variation 1286
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1065761"
STS 1346..1496
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/standard_name="G29124"
/db_xref="UniSTS:1451"
STS 1399..1578
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/standard_name="SHGC-76163"
/db_xref="UniSTS:52989"
STS 1400..1578
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
/standard_name="RH81001"
/db_xref="UniSTS:89622"
polyA_signal 2152..2157
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
polyA_site 2172
/gene="CHIT1"
/gene_synonym="CHI3; CHIT; CHITD"
ORIGIN
actcctggctggggtgggacagggtggccagataaaagcagagcaggacctggaaagctggtttgtatgggctgcagcctgccgctgagctgcatcatggtgcggtctgtggcctgggcaggtttcatggtcctgctgatgatcccatggggctctgctgcaaaactggtctgctacttcaccaactgggcccagtacagacagggggaggctcgcttcctgcccaaggacttggaccccagcctttgcacccacctcatctacgccttcgctggcatgaccaaccaccagctgagcaccactgagtggaatgacgagactctctaccaggagttcaatggcctgaagaagatgaatcccaagctgaagaccctgttagccatcggaggctggaatttcggcactcagaagttcacagatatggtagccacggccaacaaccgtcagacctttgtcaactcggccatcaggtttctgcgcaaatacagctttgacggccttgaccttgactgggagtacccaggaagccaggggagccctgccttccagcaggaagcccagacctcagggaaggaacgccttcttctgagtgcagcggttccagctgggcagacctatgtggatgctggatacgaggtggacaaaatcgcccagaacctggattttgtcaaccttatggcctacgacttccatggctcttgggagaaggtcacgggacataacagccccctctacaagaggcaagaagagagtggtgcagcagccagcctcaacgtggatgctgctgtgcaacagtggctgcagaaggggacccctgccagcaagctgatccttggcatgcctacctacggacgctccttcacactggcctcctcatcagacaccagagtgggggccccagccacagggtctggcactccaggccccttcaccaaggaaggagggatgctggcctactatgaagtctgctcctggaagggggccaccaaacagagaatccaggatcagaaggtgccctacatcttccgggacaaccagtgggtgggctttgatgatgtggagagcttcaaaaccaagggccgataccccctcatccagacgctacggcaggaactgagtcttccatacttgccttcaggcaccccagagcttgaagttccaaaaccaggtcagccctctgaacctgagcatggccccagccctggacaagacacgttctgccagggcaaagctgatgggctctatcccaatcctcgggaacggtccagcttctacagctgtgcagcggggcggctgttccagcaaagctgcccgacaggcctggtgttcagcaactcctgcaaatgctgcacctggaattgagtcgctaaagcccctccagtcccagctttgaggctgggcccaggatcactctacagcctgcctcctgggttttccctgggggccgcaatctggctcctgcaggcctttctgtggtcttcctttatccaggctttctgctctcagccttgccttccttttttctgggtctcctgggctgcccctttcacttgcaaaataaatctttggtttgtgcccctcttcccaaagatgtggtgacttaagaggctctctaagcacactgttgactccaaaacatccgcaggtcagagccaggtgggaaggtggtccgtgcaggatgtgccaggccctgtggcaggtcttgccccatgagtccatatgccagtgggcagtttccagtacacaggtgatggcagccagagcgcggccccaagtgcaacacgttctttggttattggctcagaagcctggaaacaggagcttctgcggaccttcacgcacgtgttattcccaaaatgccactagatggcagcagagaagaacttttccctgatttaagcgctctgcgagcagccactcagcattacactaagaattcagacccctggtactcaggggtcttcgagataaatcctgtttgggccctttgcaggccctatctcacctactgcccccgttcaccagatgaagaaggaacaatgattattctcactttataggcatttaaactgaagactgattctaaccaattctgagtccagaaccaaggcctgaaatgggccagagagcatgcacacggtgtcctggttaaataaagtcatcccaacattcaaaaaaaaaaaaaaaaaa
//
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_001257438 -> EC 3.2.1.14
by
@meso_cacase at
DBCLS
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