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

Gene ID: 22856, updated on 5-Aug-2018

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; Vega:OTTHUMG00000149873
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

Genomic context

See CHSY1 in Genome Data Viewer
Location:
15q26.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (101175723..101251932, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101715928..101792137, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927751 Neighboring gene aldehyde dehydrogenase 1 family member A3 Neighboring gene leucine rich repeat kinase 1 Neighboring gene uncharacterized LOC105371026 Neighboring gene uncharacterized LOC107984727 Neighboring gene selenoprotein S

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ58581, KIAA0990, DKFZp434M032

Gene Ontology Provided by GOA

Process Evidence Code Pubs
bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
chondrocyte development IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
chondroitin sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
negative regulation of ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
sulfation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

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
XP_006720498.1
XP_011519666.1
XP_016877500.1
XP_024305641.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_031908.1 RefSeqGene

    Range
    5001..81210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014918.4NP_055733.2  chondroitin sulfate synthase 1 precursor

    See identical proteins and their annotated locations for NP_055733.2

    Status: REVIEWED

    Source sequence(s)
    AB023207, AC019254, BC046247, BQ007796
    Consensus CDS
    CCDS10390.1
    UniProtKB/Swiss-Prot
    Q86X52
    Related
    ENSP00000254190.3, OTTHUMP00000194839, ENST00000254190.3, OTTHUMT00000313624
    Conserved Domains (2) summary
    pfam05679
    Location:238777
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
    cl21608
    Location:87308
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    101175723..101251932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521364.2XP_011519666.1  chondroitin sulfate synthase 1 isoform X1

    Conserved Domains (2) summary
    pfam05679
    Location:238805
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
    cl21608
    Location:87265
    Galactosyl_T; Galactosyltransferase
  2. XM_017022011.1XP_016877500.1  chondroitin sulfate synthase 1 isoform X3

    Conserved Domains (1) summary
    pfam05679
    Location:1505
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
  3. XM_006720435.3XP_006720498.1  chondroitin sulfate synthase 1 isoform X3

    See identical proteins and their annotated locations for XP_006720498.1

    Conserved Domains (1) summary
    pfam05679
    Location:1505
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
  4. XM_024449873.1XP_024305641.1  chondroitin sulfate synthase 1 isoform X2

    Conserved Domains (1) summary
    pfam05679
    Location:66570
    CHGN; Chondroitin N-acetylgalactosaminyltransferase
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