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Chsy1
Gene Detail
 Symbol
Name
ID
Chsy1
chondroitin sulfate synthase 1
MGI:2681120
Synonyms mKIAA0990
Feature Type protein coding gene
Genetic Map
Chromosome 7
35.50 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:66109515-66173789 bp, + strand
From VEGA annotation of GRCm38

  64275 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8950  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Chsy1

Human
homologs
Human Homolog CHSY1, chondroitin sulfate synthase 1
NCBI Gene ID 22856
neXtProt AC  NX_Q86X52
Human Synonyms  CHSY, ChSy-1, CSS1, TPBS
Human Chr (Location)  15q26.3; chr15:101175723-101251932 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CHSY1
Alleles
and
phenotypes
All alleles(2) : Targeted(1) Gene trapped(1)
 
Homozygous mice are viable, but display chondrodysplasia, brachydactyly and decreased bone density. Retinal degeneration, impaired motor strength, and hematological abnormalities are also seen.
 
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process chondroitin sulfate biosynthetic process, negative regulation of ossification
Component extracellular region, Golgi apparatus, ...
Function glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (94)    Images (8)
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(53)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(54) cDNA(53) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000029829 (Evidence)
Ensembl Gene ModelENSMUSG00000032640 (Evidence)
Entrez Gene269941 (Evidence)
UniGene333916
DFCITC1600833
DoTSDT.534271, DT.87033096
NIA Mouse Gene IndexU008189
EC2.4.1.175, 2.4.1.226
Consensus CDS ProjectCCDS39978.1
International Mouse Knockout Project StatusChsy1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029829 VEGA Gene Model | MGI Sequence Detail 64275 C57BL/6J ±  kb
transcript OTTMUST00000074032 VEGA | MGI Sequence Detail 4167 Not Applicable 
polypeptide OTTMUSP00000038400 VEGA | MGI Sequence Detail 800 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(4) UniProt(4)
Polymorphisms SNPs within 2kb(743 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008428 Chondroitin N-acetylgalactosaminyltransferase
Protein Ontology PR:000005483 chondroitin sulfate synthase 1
References (Earliest) J:86686 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Aug 31;10(4):167-80
(Latest) J:191659 Ogawa H, et al., Chondroitin sulfate synthase-2 is necessary for chain extension of chondroitin sulfate but not critical for skeletal development. PLoS One. 2012;7(8):e43806
All references(34)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory