CHIT1 (chitinase 1)

Gene

• Entrez ID: 1118
• Gene name: Chitinase 1
• Gene symbol: CHIT1
• Synonyms (NCBI Gene): CHI3, CHIT, CHITD
• Chromosome: 1
• Chromosome location: 1q32.1
• 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. H

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852607	C>T	Likely-benign, affects	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT890098	hsa-miR-1237	CLIP-seq
MIRT890099	hsa-miR-1248	CLIP-seq
MIRT890100	hsa-miR-197	CLIP-seq
MIRT890101	hsa-miR-224	CLIP-seq
MIRT890102	hsa-miR-4270	CLIP-seq
MIRT890103	hsa-miR-4289	CLIP-seq
MIRT890104	hsa-miR-4299	CLIP-seq
MIRT890105	hsa-miR-4326	CLIP-seq
MIRT890106	hsa-miR-4441	CLIP-seq
MIRT890107	hsa-miR-4456	CLIP-seq
MIRT890108	hsa-miR-4659a-3p	CLIP-seq
MIRT890109	hsa-miR-4659b-3p	CLIP-seq
MIRT890110	hsa-miR-4668-5p	CLIP-seq
MIRT890111	hsa-miR-4778-3p	CLIP-seq
MIRT890112	hsa-miR-548q	CLIP-seq
MIRT890113	hsa-miR-942	CLIP-seq
MIRT1963726	hsa-miR-2861	CLIP-seq
MIRT1963727	hsa-miR-3064-3p	CLIP-seq
MIRT1963728	hsa-miR-3918	CLIP-seq
MIRT1963729	hsa-miR-4512	CLIP-seq
MIRT890108	hsa-miR-4659a-3p	CLIP-seq
MIRT890109	hsa-miR-4659b-3p	CLIP-seq
MIRT1963730	hsa-miR-4769-3p	CLIP-seq
MIRT890113	hsa-miR-942	CLIP-seq
MIRT2200041	hsa-miR-1205	CLIP-seq
MIRT2200042	hsa-miR-1286	CLIP-seq
MIRT2200043	hsa-miR-140-3p	CLIP-seq
MIRT2200044	hsa-miR-4722-5p	CLIP-seq
MIRT1963730	hsa-miR-4769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000272	Process	Polysaccharide catabolic process	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	TAS
GO:0004568	Function	Chitinase activity	IBA
GO:0004568	Function	Chitinase activity	IDA	11085997
GO:0004568	Function	Chitinase activity	IEA
GO:0004568	Function	Chitinase activity	TAS	7836450, 9748235
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	19725875
GO:0005615	Component	Extracellular space	TAS	7592832
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006032	Process	Chitin catabolic process	IBA
GO:0006032	Process	Chitin catabolic process	IDA	19725875
GO:0006032	Process	Chitin catabolic process	IEA
GO:0006032	Process	Chitin catabolic process	TAS	9748235
GO:0006955	Process	Immune response	NAS	9748235
GO:0008061	Function	Chitin binding	IEA
GO:0008061	Function	Chitin binding	TAS	9748235
GO:0008843	Function	Endochitinase activity	IDA	19725875
GO:0008843	Function	Endochitinase activity	IEA
GO:0009617	Process	Response to bacterium	TAS	9402970
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0044245	Process	Polysaccharide digestion	IEA
GO:0044245	Process	Polysaccharide digestion	TAS
GO:1904724	Component	Tertiary granule lumen	TAS

Other IDs

• MIM: 600031
• HGNC: 1936
• e!Ensembl: ENSG00000133063

Protein

• UniProt ID: Q13231
• Protein name: Chitotriosidase-1 (EC 3.2.1.14) (Chitinase-1)
• Protein function: Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.
• PDB: 1GUV, 1HKI, 1HKJ, 1HKK, 1HKM, 1LG1, 1LG2, 1LQ0, 1WAW, 1WB0, 4WJX, 4WK9, 4WKA, 4WKF, 4WKH, 5HBF, 5NR8, 5NRA, 5NRF, 6JJR, 6JK6, 6SO0, 6ZE8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00704	Glyco_hydro_18	23 → 363	Glycosyl hydrolases family 18	Domain
  PF01607	CBM_14	420 → 466	Chitin binding Peritrophin-A domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in spleen. Secreted by cultured macrophages. {ECO:0000269|PubMed:7836450}.
• Sequence:

  MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAG
  MTNHQLSTTEWNDETLYQEFNGLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFV
  NSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQDLANAFQQEAQTSGKERLLL
  SAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAAS
  LNVDAAVQQWLQKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGM
  LAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVESFKTKVSYLKQKGLGGAMVWAL
  DLDDFAGFSCNQGRYPLIQTLRQELSLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTFC
  QGKADGLYPNPRERSSFYSCAAGRLFQQSCPTGLVFSNSCKCCTWN

• Sequence length: 466

Pathways

KEGG:

Amino sugar and nucleotide sugar metabolism
Metabolic pathways

Reactome:

Digestion of dietary carbohydrate
Neutrophil degranulation

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2102229799	-
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign	rs2297947, rs146112390	RCV005891594 RCV005906193
Chitotriosidase deficiency	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs370359172, rs555489365, rs147080247, rs372939622, rs199819924, rs200777680, rs369336966, rs193156676, rs137954453, rs757187427, rs1403876953, rs780037348, rs188371763, rs371328957, rs568595374, rs773980064, rs768505099, rs201870197, rs1170791356, rs367900575, rs150852382, rs143138885, rs143254493, rs16851144, rs771422197, rs773220594, rs1052967197, rs765975898, rs775684280, rs1287331665, rs377353584, rs200780921, rs538252193, rs2526385254, rs769867480, rs140770731, rs749359628, rs758032638, rs539275442, rs149551689, rs764631127, rs2526384498, rs372798323, rs369795637, rs137852607, rs2297950, rs192633567, rs376701295, rs1065761, rs886045832, rs143439055, rs201682373, rs3831317, rs183706407, rs374580719, rs377403883, rs190551025, rs116389839, rs753899130, rs370076959, rs73066394, rs140728916, rs761217387, rs770846687, rs141079733, rs144422918, rs2297947, rs560698644, rs368307246, rs772756608, rs367910344, rs780332677, rs200630872, rs146692911, rs375531046, rs886045830, rs886045831, rs73066400, rs770731880, rs11800196, rs115551220, rs368913199, rs200995061, rs769451842, rs202003206, rs140228721, rs145366738, rs182143561, rs371464440, rs151004649, rs201180236, rs773126401, rs201347216, rs886045833, rs772846697, rs375445198, rs1282148472, rs147465832, rs146105561, rs1330040380, rs369594904, rs140151000, rs777287951, rs2526349106, rs1392680231, rs1656561428, rs748630131, rs2526371522, rs1657010162, rs2526337411, rs778655930, rs113204979, rs763218219, rs201975143, rs9943208, rs73066396, rs61745299, rs114168492, rs139891908, rs184235051, rs35920428, rs186594769, rs536102546, rs138767766, rs117678693, rs2275533, rs148451620, rs143518872, rs12562058, rs146112390, rs368107800, rs141978567, rs1236089253, rs541251343, rs1369299780, rs1441690560, rs1656539475, rs56391640, rs78739067, rs759297490, rs199572557, rs139939985, rs374021722, rs750793447, rs752379824, rs1656669997, rs749852330, rs757305430, rs569180795, rs374115648, rs1656648423, rs761503836, rs377276949, rs142999142	RCV001345863 RCV001488428 RCV001517138 RCV001513050 RCV001515658 RCV001514672 RCV001942183 RCV002184605 RCV002075460 RCV002185984 RCV002199792 RCV002085438 RCV002209813 RCV002128103 RCV002136689 RCV002095279 RCV002132191 RCV002125891 RCV002147621 RCV003062734 RCV003070048 RCV002599695 RCV002610946 RCV002637202 RCV002629569 RCV002628492 RCV002628511 RCV002625226 RCV002629806 RCV003104262 RCV002573011 RCV002581379 RCV002614175 RCV002663590 RCV002700830 RCV002756968 RCV002907743 RCV002913063 RCV002919154 RCV002942222 RCV002957169 RCV002949077 RCV003039551 RCV003621671 RCV003509773 RCV000010133 RCV000010134 RCV000327037 RCV000268425 RCV000312448 RCV000308928 RCV000360367 RCV000321959 RCV000374214 RCV000287684 RCV000344975 RCV000305261 RCV000273957 RCV000331874 RCV000325956 RCV000382808 RCV000321580 RCV000376211 RCV000336870 RCV000372577 RCV000407716 RCV000363733 RCV000305602 RCV000372984 RCV000385472 RCV000406264 RCV000359583 RCV000402666 RCV000261427 RCV000371343 RCV000285994 RCV000381567 RCV000278252 RCV000269152 RCV000264507 RCV000407311 RCV000336794 RCV000281788 RCV000351906 RCV000348636 RCV000403082 RCV000315997 RCV000294905 RCV000352088 RCV000293497 RCV000346120 RCV000391402 RCV000301388 RCV000384083 RCV000292042 RCV000343402 RCV000284061 RCV003510528 RCV003510815 RCV003511090 RCV003511171 RCV003509008 RCV003509344 RCV003509320 RCV003509438 RCV003510404 RCV003622692 RCV003623034 RCV003623192 RCV003623522 RCV003622045 RCV003622272 RCV003622192 RCV003622289 RCV003880988 RCV001030826 RCV001030825 RCV001101416 RCV001087249 RCV001099530 RCV001101511 RCV002060835 RCV001088405 RCV001101417 RCV001512506 RCV001099528 RCV001101512 RCV001097745 RCV002539416 RCV000891852 RCV001101509 RCV002540120 RCV003509626 RCV002539447 RCV001097653 RCV001097654 RCV001097655 RCV001097656 RCV001099418 RCV001099419 RCV001099420 RCV001099421 RCV001101418 RCV001095950 RCV001095951 RCV001095952 RCV001097743 RCV001097744 RCV001099529 RCV001101513 RCV001096067 RCV001097826 RCV001097827 RCV001097746 RCV001101510 RCV001242230 RCV001308484
Clear cell carcinoma of kidney	Benign	rs143439055	RCV005869265
Colon adenocarcinoma	Benign	rs369594904	RCV005931453
Familial cancer of breast	Benign	rs143439055	RCV005869262
Gastric cancer	Benign	rs143439055	RCV005869266
Lung cancer	Conflicting classifications of pathogenicity	rs146692911	RCV005891597
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs143439055, rs2297947, rs146692911	RCV005869264 RCV005891593 RCV005891595
Nonpapillary renal cell carcinoma	Uncertain significance	rs201510066	RCV005897380
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs146692911, rs201510066	RCV005891596 RCV005897381
Papillary renal cell carcinoma type 1	Benign	rs143439055	RCV005869263
Thyroid cancer, nonmedullary, 1	Benign	rs369594904	RCV005931454

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	31892365, 37348871, 40696469
Amyotrophic Lateral Sclerosis	Associate	30572951, 32666680
Amyotrophic Lateral Sclerosis	Stimulate	31937582, 40306441
Asthma	Associate	19421404
Atherosclerosis	Associate	32849633
Biliary Atresia	Associate	40665272
Cardiovascular Diseases	Associate	30311184
Colorectal Neoplasms	Associate	27153562
Coronary Artery Disease	Associate	23233742
Diabetic Nephropathies	Associate	26589000
Fatty Liver	Associate	16825325
Fatty Liver Alcoholic	Associate	16825325
Fibrosis	Associate	16825325, 31085559
Frontotemporal Lobar Degeneration	Associate	31892365
Gaucher Disease	Associate	19725875
Granulomatous Mastitis	Associate	39201744
HIV Infections	Stimulate	30665939
Idiopathic Pulmonary Fibrosis	Associate	31085559
Idiopathic Pulmonary Fibrosis	Stimulate	35222369
Immunologic Deficiency Syndromes	Associate	17693102
Inflammation	Associate	30311184, 37511338, 39385222
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	40696469
Knee Injuries	Stimulate	25151085
Lung Diseases Interstitial	Associate	31085559
Lung Injury	Associate	19421404
Lymphoma B Cell Marginal Zone	Associate	22110251
Lysosomal Storage Diseases	Associate	15900564
Movement Disorders	Associate	31997416
Multiple Sclerosis	Associate	31997416
Neoplasms	Associate	27153562
Neuroinflammatory Diseases	Associate	32666680
Non alcoholic Fatty Liver Disease	Associate	16825325
Norrie disease	Stimulate	31892365
Obesity	Associate	37671970
Osteolysis	Stimulate	25940887
Paraparesis Tropical Spastic	Stimulate	36052089
Prion Diseases	Associate	31892365
Prosthesis Failure	Stimulate	25151085
Pulmonary Disease Chronic Obstructive	Stimulate	30665939
Pulmonary Fibrosis	Associate	31085559
Sarcoidosis	Associate	19421404
Scleroderma Systemic	Associate	31085559
Stroke	Stimulate	24167359
Thyroid Cancer Papillary	Associate	37671970
Uterine Cervical Neoplasms	Associate	34539641, 36973995