CHSY1 chondroitin sulfate synthase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHSY1provided by HGNC
Official Full Name: chondroitin sulfate synthase 1provided by HGNC
Primary source: HGNC:HGNC:17198
See related: Ensembl:ENSG00000131873 MIM:608183; AllianceGenome:HGNC:17198
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: CHSY; CSS1; TPBS; ChSy-1
Summary: This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in placenta (RPKM 23.5), gall bladder (RPKM 17.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (101175727..101252048, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (98930755..99007076, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (101715932..101792253, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

CHSY1 is upregulated and acts as tumor promotor in gastric cancer through regulating cell proliferation, apoptosis, and migration.
Title: CHSY1 is upregulated and acts as tumor promotor in gastric cancer through regulating cell proliferation, apoptosis, and migration.
LncRNA LINC01094 contributes to glioma progression by modulating miR-224-5p/CHSY1 axis.
Title: LncRNA LINC01094 contributes to glioma progression by modulating miR-224-5p/CHSY1 axis.
CHSY1 overexpression in HCC contributes to the malignant behavior of hepatocellular carcinoma cells via activation of the hedgehog signaling pathway.
Title: CHSY1 promotes aggressive phenotypes of hepatocellular carcinoma cells via activation of the hedgehog signaling pathway.
CHSY1 expression is closely associated with malignant potential of soft tissue sarcomas with myxoid substance.
Title: Chondroitin sulfate synthase 1 expression is associated with malignant potential of soft tissue sarcomas with myxoid substance.
A novel missense mutation (c.1897 G > A) in the CHSY1 gene in two Temtamy preaxial brachydactyly syndrome patients from a consanguineous Pakistani family.
Title: A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
elongation of chondroitin sulfate chains may be tightly regulated by the cooperative expression of chondroitin synthase-1 and chondroitin N-acetylgalactosaminyltransferase-1 in peripheral neurons and peripheral neuropathies
Title: A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.
The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer.
Title: Chondroitin synthases I, II, III and chondroitin sulfate glucuronyltransferase expression in colorectal cancer.
unrestricted Bmp2b signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation
Title: Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
conclude that CHSY1 is a secreted FRINGE enzyme required for adjustment of NOTCH signaling throughout human and fish embryogenesis and particularly during limb patterning
Title: Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.
chondroitin polymerizing activity requires concomitant expression of a ChPF with ChSy; coexpression of the ChPF and ChSy yielded markedly augmented glycosyltransferase activities, whereas simple mixing of the two separately expressed proteins did not.
Title: Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization.

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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

Associated conditions

Description	Tests
Temtamy preaxial brachydactyly syndrome MedGen: C1854466 OMIM: 605282 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a candidate gene for astigmatism. 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

D11S2252E (e-PCR)
- UniSTS:85802

RH121848 (e-PCR)
- UniSTS:134509

SHGC-147931 (e-PCR)
- UniSTS:176103

RH189 (e-PCR)
- UniSTS:53235

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	TAS Traceable Author Statement more info
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chondroitin sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chondroitin sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in sulfation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: chondroitin sulfate synthase 1

Names: N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase II; carbohydrate synthase 1; chondroitin glucuronyltransferase 1; chondroitin glucuronyltransferase II; chondroitin synthase 1; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1

NP_055733.2

EC 2.4.1.175

EC 2.4.1.226

XP_011519666.1

EC 2.4.1.175

EC 2.4.1.226

XP_016877500.1

EC 2.4.1.175

EC 2.4.1.226

XP_024305641.1

EC 2.4.1.175

EC 2.4.1.226

XP_047288196.1

EC 2.4.1.175

EC 2.4.1.226

XP_054233485.1

EC 2.4.1.175

EC 2.4.1.226

XP_054233486.1

EC 2.4.1.175

EC 2.4.1.226

XP_054233487.1

EC 2.4.1.175

EC 2.4.1.226

XP_054233488.1

EC 2.4.1.175

EC 2.4.1.226

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.

Genomic

NG_031908.1 RefSeqGene

Range

4885..81206

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014918.5 → NP_055733.2 chondroitin sulfate synthase 1

See identical proteins and their annotated locations for NP_055733.2

Status: REVIEWED

Source sequence(s)

AB023207, AC019254, AC023024, BC046247, BQ007796

Consensus CDS

CCDS10390.1

UniProtKB/Swiss-Prot

Q6UX38, Q7LFU5, Q86X52, Q9Y2J5

Related

ENSP00000254190.3, ENST00000254190.4

Conserved Domains (2) summary

pfam05679
Location:238 → 777

CHGN; Chondroitin N-acetylgalactosaminyltransferase

cl21608
Location:87 → 308

Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

101175727..101252048 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521364.3 → XP_011519666.1 chondroitin sulfate synthase 1 isoform X1

Conserved Domains (2) summary

pfam05679
Location:238 → 805

CHGN; Chondroitin N-acetylgalactosaminyltransferase

cl21608
Location:87 → 265

Galactosyl_T; Galactosyltransferase
XM_047432240.1 → XP_047288196.1 chondroitin sulfate synthase 1 isoform X3

UniProtKB/TrEMBL

B4DLD0
XM_017022011.2 → XP_016877500.1 chondroitin sulfate synthase 1 isoform X3

UniProtKB/TrEMBL

B4DLD0

Conserved Domains (1) summary

pfam05679
Location:1 → 505

CHGN; Chondroitin N-acetylgalactosaminyltransferase
XM_024449873.1 → XP_024305641.1 chondroitin sulfate synthase 1 isoform X2

UniProtKB/TrEMBL

B4DLD0

Conserved Domains (1) summary

pfam05679
Location:66 → 570

CHGN; Chondroitin N-acetylgalactosaminyltransferase

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

98930755..99007076 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377510.1 → XP_054233485.1 chondroitin sulfate synthase 1 isoform X1
XM_054377513.1 → XP_054233488.1 chondroitin sulfate synthase 1 isoform X3

UniProtKB/TrEMBL

B4DLD0
XM_054377512.1 → XP_054233487.1 chondroitin sulfate synthase 1 isoform X3

UniProtKB/TrEMBL

B4DLD0
XM_054377511.1 → XP_054233486.1 chondroitin sulfate synthase 1 isoform X4

UniProtKB/TrEMBL

B4DLD0