CHIA chitinase acidic [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHIAprovided by HGNC
Official Full Name: chitinase acidicprovided by HGNC
Primary source: HGNC:HGNC:17432
See related: Ensembl:ENSG00000134216 MIM:606080; AllianceGenome:HGNC:17432
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHIT2; AMCASE; TSA1902
Summary: The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Expression: Biased expression in stomach (RPKM 2.7), lung (RPKM 1.9) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 1p13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (111290851..111320563)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (111305627..111335252)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (111833473..111863185)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMCase expression was significantly higher in helminths-infected patients than the noninfected, or protozoa infected.
Title: Acidic mammalian chitinase tuning after enteric helminths eradication in inflammatory respiratory disease patients.
rs10494132 polymorphism of CHIA might be a risk factor for asthma.
Title: Association between risk of asthma and gene polymorphisms in CHI3L1 and CHIA: a systematic meta-analysis.
we showed that M at the position 61 is highly conserved in the many mammals other than orangutan and humans. In addition, introduction of M61R and M61I to WT mouse AMCase lead to a significant reduction of its chitinolytic activity. Taken together, our present and previous data by Seibold et al. (2009) indicate that G339T (R61M) in humans is associated with asthma protection in the fashion of gain of function
Title: Loss and Gain of Human Acidic Mammalian Chitinase Activity by Nonsynonymous SNPs.
This is the first report on the association between low-frequency and common variants in the chitinases-related genes CHIA and CHI3L1 with the intensity of specific IgE to ABA-1 in a population naturally exposed to Ascaris and with Bet v 1 in a Swedish population.
Title: Genetic Variants in CHIA and CHI3L1 Are Associated with the IgE Response to the Ascaris Resistance Marker ABA-1 and the Birch Pollen Allergen Bet v 1.
These data provide the experimental evidence that telomere shortening and related inflammatory proteins are associated with human IgAN, and it could be a new direction for the disease progression study.
Title: Proteins induced by telomere dysfunction are associated with human IgA nephropathy.
loss of acidic chitinase expression is a promising marker for corpus atrophy
Title: Transcriptome signatures in Helicobacter pylori-infected mucosa identifies acidic mammalian chitinase loss as a corpus atrophy marker.
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.
Title: Evaluation of AMCase and CHIT-1 expression in monocyte macrophages lineage.
study demonstrated genetic associations between chitinase gene variants and lung function level and rate of decline in chronic obstructive pulmonary disease patients from the Lung Health Study; also functional effect of the rs3818822 polymorphism on AMCase levels and activity was demonstrated
Title: Genetic association between human chitinases and lung function in COPD.
increased chitinolytic activity in nasal polyps
Title: Chitinolytic activity in nasal polyps.
Report increased CSF chitinase levels in patients with neuromyelitis optica and relapsing remitting multiple sclerosis.
Title: Chitinase effects on immune cell response in neuromyelitis optica and multiple sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL009809 (e-PCR)
- UniSTS:12923

NoName (e-PCR)
- UniSTS:486602

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables chitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables chitinase activity	NAS Non-traceable Author Statement more info	PubMed
enables chitinase activity	TAS Traceable Author Statement more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in chitin catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in chitin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chitin metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in polysaccharide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in polysaccharide digestion	TAS Traceable Author Statement more info
involved_in positive regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in production of molecular mediator involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: acidic mammalian chitinase

Names: lung-specific protein TSA1902

NP_001035713.1

EC 3.2.1.14

NP_001244930.1

EC 3.2.1.14

NP_001244931.1

EC 3.2.1.14

NP_001244932.1

EC 3.2.1.14

NP_001244933.1

EC 3.2.1.14

NP_001244934.1

EC 3.2.1.14

NP_068569.2

EC 3.2.1.14

NP_970615.2

EC 3.2.1.14

XP_016856536.1

EC 3.2.1.14

XP_054191985.1

EC 3.2.1.14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001040623.3 → NP_001035713.1 acidic mammalian chitinase isoform b

See identical proteins and their annotated locations for NP_001035713.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks exons in the 5' end of the coding region compared to variant 4. The resulting isoform (b, also known as TSA1902-S) is shorter at the N-terminus compared to isoform a. Variants 3, 6, 8, and 9 all encode the same isoform (b).

Source sequence(s)

AB025008, AF290004, AK290702, AL513202, AY789445, BC036339

Consensus CDS

CCDS58017.1

UniProtKB/TrEMBL

Q1M0P3

Related

ENSP00000390476.2, ENST00000451398.6

Conserved Domains (3) summary

smart00494
Location:268 → 315

ChtBD2; Chitin-binding domain type 2

smart00636
Location:1 → 204

Glyco_18; Glyco_18 domain

cl10447
Location:1 → 226

GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...
NM_001258001.2 → NP_001244930.1 acidic mammalian chitinase isoform a

See identical proteins and their annotated locations for NP_001244930.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an exon in the 5' coding region and initiates translation at a downstream AUG compared to variant 4. The encoded isoform (a, also known as TSA1902-L) has a shorter N-terminus and lacks a signal peptide compared to isoform c. Variants 2, 5, and 7 all encode the same isoform (a).

Source sequence(s)

AK290702, AL513202, BC036339

Consensus CDS

CCDS832.1

UniProtKB/TrEMBL

A8K3T7

Related

ENSP00000391132.1, ENST00000430615.1

Conserved Domains (2) summary

cd02872
Location:1 → 279

GH18_chitolectin_chitotriosidase; 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 ...

smart00494
Location:321 → 368

ChtBD2; Chitin-binding domain type 2
NM_001258002.2 → NP_001244931.1 acidic mammalian chitinase isoform b

See identical proteins and their annotated locations for NP_001244931.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks exons in the 5' coding region and initiates translation at a downstream AUG compared to variant 4. The encoded isoform (b, also known as TSA1902-S) has a shorter N-terminus and lacks a signal peptide compared to isoform c. Variants 3, 6, 8, and 9 all encode the same isoform (b).

Source sequence(s)

AB025009, AK290702, AL356387, AL513202, BC036339

Consensus CDS

CCDS58017.1

UniProtKB/TrEMBL

Q1M0P3

Related

ENSP00000436946.1, ENST00000483391.5

Conserved Domains (3) summary

smart00494
Location:268 → 315

ChtBD2; Chitin-binding domain type 2

smart00636
Location:1 → 204

Glyco_18; Glyco_18 domain

cl10447
Location:1 → 226

GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...
NM_001258003.2 → NP_001244932.1 acidic mammalian chitinase isoform a

See identical proteins and their annotated locations for NP_001244932.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks exons in the 5' coding region and initiates translation at a downstream AUG compared to variant 4. The encoded isoform (a, also known as TSA1902-L) has a shorter N-terminus and lacks a signal peptide compared to isoform c. Variants 2, 5, and 7 all encode the same isoform (a).

Source sequence(s)

AK290702, AL513202, AY825504, BC036339

Consensus CDS

CCDS832.1

UniProtKB/TrEMBL

A8K3T7

Conserved Domains (2) summary

cd02872
Location:1 → 279

GH18_chitolectin_chitotriosidase; 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 ...

smart00494
Location:321 → 368

ChtBD2; Chitin-binding domain type 2
NM_001258004.2 → NP_001244933.1 acidic mammalian chitinase isoform b

See identical proteins and their annotated locations for NP_001244933.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an exon and contains another exon in the 5' coding region, initiating translation at a downstream AUG compared to variant 4. The encoded isoform (b, also known as TSA1902-S) has a shorter N-terminus and lacks a signal peptide compared to isoform c. Variants 3, 6, 8, and 9 all encode the same isoform (b).

Source sequence(s)

AB025008, AF290004, AK290702, AL356387, AL513202, AY911310, BC036339

Consensus CDS

CCDS58017.1

UniProtKB/TrEMBL

Q1M0P3

Conserved Domains (3) summary

smart00494
Location:268 → 315

ChtBD2; Chitin-binding domain type 2

smart00636
Location:1 → 204

Glyco_18; Glyco_18 domain

cl10447
Location:1 → 226

GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...
NM_001258005.2 → NP_001244934.1 acidic mammalian chitinase isoform b

See identical proteins and their annotated locations for NP_001244934.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks exons and contains another exon in the 5' coding region, initiating translation at a downstream AUG compared to variant 4. The encoded isoform (b, also known as TSA1902-S) has a shorter N-terminus and lacks a signal peptide compared to isoform c. Variants 3, 6, 8, and 9 all encode the same isoform (b).

Source sequence(s)

AB025008, AF290004, AK290702, AL356387, AL513202, AY911311, BC036339

Consensus CDS

CCDS58017.1

UniProtKB/TrEMBL

Q1M0P3

Related

ENSP00000338970.7, ENST00000353665.10

Conserved Domains (3) summary

smart00494
Location:268 → 315

ChtBD2; Chitin-binding domain type 2

smart00636
Location:1 → 204

Glyco_18; Glyco_18 domain

cl10447
Location:1 → 226

GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...
NM_021797.4 → NP_068569.2 acidic mammalian chitinase isoform a

See identical proteins and their annotated locations for NP_068569.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks exons in the 5' coding region and initiates translation at a downstream AUG compared to variant 4. The encoded isoform (a, also known as TSA1902-L) has a shorter N-terminus and lacks a signal peptide compared to isoform c. Variants 2, 5, and 7 all encode the same isoform (a).

Source sequence(s)

AB025008, AK290702, AL513202, BC036339

Consensus CDS

CCDS832.1

UniProtKB/TrEMBL

A8K3T7

Related

ENSP00000387671.1, ENST00000422815.5

Conserved Domains (2) summary

cd02872
Location:1 → 279

GH18_chitolectin_chitotriosidase; 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 ...

smart00494
Location:321 → 368

ChtBD2; Chitin-binding domain type 2
NM_201653.4 → NP_970615.2 acidic mammalian chitinase isoform c precursor

See identical proteins and their annotated locations for NP_970615.2

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (c). Version 1 of this RefSeq represented a distinct variant (1) encoding a different isoform (a).

Source sequence(s)

AB025008, AF290004, AK290702, AL513202, BC036339

Consensus CDS

CCDS41368.1

UniProtKB/Swiss-Prot

Q32W79, Q32W80, Q3B866, Q5U5Z5, Q5VUV4, Q86UD8, Q9BZP6, Q9ULY3, Q9ULY4

UniProtKB/TrEMBL

A5D6V7

Related

ENSP00000358755.1, ENST00000369740.6

Conserved Domains (3) summary

cd02872
Location:24 → 387

GH18_chitolectin_chitotriosidase; 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 ...

smart00494
Location:429 → 476

ChtBD2; Chitin-binding domain type 2

smart00636
Location:26 → 365

Glyco_18; Glyco_18 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

111290851..111320563

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001047.1 → XP_016856536.1 acidic mammalian chitinase isoform X1

UniProtKB/TrEMBL

Q1M0P3

Conserved Domains (3) summary

smart00494
Location:268 → 315

ChtBD2; Chitin-binding domain type 2

smart00636
Location:1 → 204

Glyco_18; Glyco_18 domain

cl10447
Location:1 → 226

GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...