UniProtKB - Q86X52 (CHSS1_HUMAN)
Protein
Chondroitin sulfate synthase 1
Gene
CHSY1
Organism
Homo sapiens (Human)
Status
Functioni
Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.2 Publications
Catalytic activityi
- 3-O-(β-D-GlcA-(1→3)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-α-D-galactosamine = 3-O-(β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + H+ + UDPEC:2.4.1.175
- 3-O-(β-D-GlcA-(1→3)-[β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)](n)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-α-D-galactosamine = 3-O-([β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)](n+1)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + H+ + UDPEC:2.4.1.175
- 3-O-(β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + UDP-α-D-glucuronate = 3-O-(β-D-GlcA-(1→3)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + H+ + UDPEC:2.4.1.226
- 3-O-([β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)](n)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + UDP-α-D-glucuronate = 3-O-(β-D-GlcA-(1→3)-[β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)](n)-β-D-GalNAc-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl)-L-seryl-[protein] + H+ + UDPEC:2.4.1.226
Cofactori
Co2+1 Publication, Mn2+1 Publication, Cd2+1 PublicationNote: Divalent metal cations. Highest activities are measured with Co2+, Mn2+ and Cd2+.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 633 | Divalent metal cationSequence analysis | 1 | |
Metal bindingi | 747 | Divalent metal cationSequence analysis | 1 |
GO - Molecular functioni
- acetylgalactosaminyltransferase activity Source: GO_Central
- glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity Source: MGI
- metal ion binding Source: UniProtKB-KW
- N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity Source: FlyBase
GO - Biological processi
- bone morphogenesis Source: Ensembl
- chondrocyte development Source: Ensembl
- chondroitin sulfate biosynthetic process Source: MGI
- negative regulation of ossification Source: UniProtKB
- positive regulation of smoothened signaling pathway Source: Ensembl
- proximal/distal pattern formation Source: Ensembl
- response to nutrient levels Source: Ensembl
- sulfation Source: Ensembl
Keywordsi
Molecular function | Transferase |
Ligand | Metal-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS13400-MONOMER |
BRENDAi | 2.4.1.175, 2681 |
PathwayCommonsi | Q86X52 |
Reactomei | R-HSA-2022870, Chondroitin sulfate biosynthesis R-HSA-3595177, Defective CHSY1 causes TPBS |
SABIO-RKi | Q86X52 |
Protein family/group databases
CAZyi | GT31, Glycosyltransferase Family 31 GT7, Glycosyltransferase Family 7 |
Names & Taxonomyi
Protein namesi | Recommended name: Chondroitin sulfate synthase 1 (EC:2.4.1.175, EC:2.4.1.226)Alternative name(s): Chondroitin glucuronyltransferase 1 Chondroitin synthase 1 Short name: ChSy-1 Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1 N-acetylgalactosaminyltransferase 1 |
Gene namesi | Name:CHSY1 Synonyms:CHSY, CSS1, KIAA0990 ORF Names:UNQ756/PRO1487 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17198, CHSY1 |
MIMi | 608183, gene |
neXtProti | NX_Q86X52 |
VEuPathDBi | HostDB:ENSG00000131873.5 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Golgi apparatus
- Golgi stack membrane 1 Publication; Single-pass type II membrane protein 1 Publication
Extracellular region or secreted
- extracellular region Source: UniProtKB
Golgi apparatus
- Golgi cisterna membrane Source: UniProtKB-SubCell
- Golgi membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 7 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 8 – 28 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 29 – 802 | LumenalSequence analysisAdd BLAST | 774 |
Keywords - Cellular componenti
Golgi apparatus, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Temtamy preaxial brachydactyly syndrome (TPBS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065821 | 19 – 28 | Missing in TPBS. 1 Publication | 10 | |
Natural variantiVAR_065822 | 539 | P → R in TPBS. 1 PublicationCorresponds to variant dbSNP:rs387906985EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 22856 |
MalaCardsi | CHSY1 |
MIMi | 605282, phenotype |
OpenTargetsi | ENSG00000131873 |
Orphaneti | 363417, Temtamy preaxial brachydactyly syndrome |
PharmGKBi | PA26509 |
Miscellaneous databases
Pharosi | Q86X52, Tbio |
Genetic variation databases
BioMutai | CHSY1 |
DMDMi | 116241296 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000189558 | 1 – 802 | Chondroitin sulfate synthase 1Add BLAST | 802 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 189 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 623 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 796 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q86X52 |
jPOSTi | Q86X52 |
MassIVEi | Q86X52 |
MaxQBi | Q86X52 |
PaxDbi | Q86X52 |
PeptideAtlasi | Q86X52 |
PRIDEi | Q86X52 |
ProteomicsDBi | 70239 |
PTM databases
GlyGeni | Q86X52, 3 sites |
iPTMneti | Q86X52 |
PhosphoSitePlusi | Q86X52 |
Expressioni
Tissue specificityi
Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.2 Publications
Gene expression databases
Bgeei | ENSG00000131873, Expressed in chorionic villus and 240 other tissues |
ExpressionAtlasi | Q86X52, baseline and differential |
Genevisiblei | Q86X52, HS |
Organism-specific databases
HPAi | ENSG00000131873, Tissue enhanced (placenta) |
Interactioni
Subunit structurei
Binds CHPF.
Protein-protein interaction databases
BioGRIDi | 116526, 23 interactors |
IntActi | Q86X52, 14 interactors |
MINTi | Q86X52 |
STRINGi | 9606.ENSP00000254190 |
Miscellaneous databases
RNActi | Q86X52, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 449 – 454 | Poly-Leu | 6 |
Sequence similaritiesi
Belongs to the chondroitin N-acetylgalactosaminyltransferase family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3588, Eukaryota |
GeneTreei | ENSGT01010000222296 |
HOGENOMi | CLU_016244_2_0_1 |
InParanoidi | Q86X52 |
OMAi | FLGQTGM |
OrthoDBi | 442283at2759 |
PhylomeDBi | Q86X52 |
TreeFami | TF318303 |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR008428, Chond_GalNAc IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF05679, CHGN, 1 hit |
SUPFAMi | SSF53448, SSF53448, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q86X52-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAARGRRAWL SVLLGLVLGF VLASRLVLPR ASELKRAGPR RRASPEGCRS
60 70 80 90 100
GQAAASQAGG ARGDARGAQL WPPGSDPDGG PRDRNFLFVG VMTAQKYLQT
110 120 130 140 150
RAVAAYRTWS KTIPGKVQFF SSEGSDTSVP IPVVPLRGVD DSYPPQKKSF
160 170 180 190 200
MMLKYMHDHY LDKYEWFMRA DDDVYIKGDR LENFLRSLNS SEPLFLGQTG
210 220 230 240 250
LGTTEEMGKL ALEPGENFCM GGPGVIMSRE VLRRMVPHIG KCLREMYTTH
260 270 280 290 300
EDVEVGRCVR RFAGVQCVWS YEMQQLFYEN YEQNKKGYIR DLHNSKIHQA
310 320 330 340 350
ITLHPNKNPP YQYRLHSYML SRKISELRHR TIQLHREIVL MSKYSNTEIH
360 370 380 390 400
KEDLQLGIPP SFMRFQPRQR EEILEWEFLT GKYLYSAVDG QPPRRGMDSA
410 420 430 440 450
QREALDDIVM QVMEMINANA KTRGRIIDFK EIQYGYRRVN PMYGAEYILD
460 470 480 490 500
LLLLYKKHKG KKMTVPVRRH AYLQQTFSKI QFVEHEELDA QELAKRINQE
510 520 530 540 550
SGSLSFLSNS LKKLVPFQLP GSKSEHKEPK DKKINILIPL SGRFDMFVRF
560 570 580 590 600
MGNFEKTCLI PNQNVKLVVL LFNSDSNPDK AKQVELMRDY RIKYPKADMQ
610 620 630 640 650
ILPVSGEFSR ALALEVGSSQ FNNESLLFFC DVDLVFTTEF LQRCRANTVL
660 670 680 690 700
GQQIYFPIIF SQYDPKIVYS GKVPSDNHFA FTQKTGFWRN YGFGITCIYK
710 720 730 740 750
GDLVRVGGFD VSIQGWGLED VDLFNKVVQA GLKTFRSQEV GVVHVHHPVF
760 770 780 790 800
CDPNLDPKQY KMCLGSKAST YGSTQQLAEM WLEKNDPSYS KSSNNNGSVR
TA
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y7B7 | A0A2R8Y7B7_HUMAN | Hexosyltransferase | CHSY1 | 53 | Annotation score: |
Sequence cautioni
The sequence BAA76834 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 274 | Q → R in AAQ88893 (PubMed:12975309).Curated | 1 | |
Sequence conflicti | 588 | R → T in BAB64936 (PubMed:11514575).Curated | 1 | |
Sequence conflicti | 588 | R → T in BAA76834 (PubMed:10231032).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065821 | 19 – 28 | Missing in TPBS. 1 Publication | 10 | |
Natural variantiVAR_021173 | 359 | P → S. Corresponds to variant dbSNP:rs3743193Ensembl. | 1 | |
Natural variantiVAR_065822 | 539 | P → R in TPBS. 1 PublicationCorresponds to variant dbSNP:rs387906985EnsemblClinVar. | 1 | |
Natural variantiVAR_028009 | 652 | Q → H. Corresponds to variant dbSNP:rs4426333Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB071402 mRNA Translation: BAB64936.1 AB023207 mRNA Translation: BAA76834.2 Different initiation. AY358529 mRNA Translation: AAQ88893.1 BC046247 mRNA Translation: AAH46247.1 |
CCDSi | CCDS10390.1 |
RefSeqi | NP_055733.2, NM_014918.4 |
Genome annotation databases
Ensembli | ENST00000254190; ENSP00000254190; ENSG00000131873 |
GeneIDi | 22856 |
KEGGi | hsa:22856 |
UCSCi | uc021sxt.1, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Chondroitin sulfate synthase 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB071402 mRNA Translation: BAB64936.1 AB023207 mRNA Translation: BAA76834.2 Different initiation. AY358529 mRNA Translation: AAQ88893.1 BC046247 mRNA Translation: AAH46247.1 |
CCDSi | CCDS10390.1 |
RefSeqi | NP_055733.2, NM_014918.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116526, 23 interactors |
IntActi | Q86X52, 14 interactors |
MINTi | Q86X52 |
STRINGi | 9606.ENSP00000254190 |
Protein family/group databases
CAZyi | GT31, Glycosyltransferase Family 31 GT7, Glycosyltransferase Family 7 |
PTM databases
GlyGeni | Q86X52, 3 sites |
iPTMneti | Q86X52 |
PhosphoSitePlusi | Q86X52 |
Genetic variation databases
BioMutai | CHSY1 |
DMDMi | 116241296 |
Proteomic databases
EPDi | Q86X52 |
jPOSTi | Q86X52 |
MassIVEi | Q86X52 |
MaxQBi | Q86X52 |
PaxDbi | Q86X52 |
PeptideAtlasi | Q86X52 |
PRIDEi | Q86X52 |
ProteomicsDBi | 70239 |
Protocols and materials databases
Antibodypediai | 43966, 139 antibodies |
Genome annotation databases
Ensembli | ENST00000254190; ENSP00000254190; ENSG00000131873 |
GeneIDi | 22856 |
KEGGi | hsa:22856 |
UCSCi | uc021sxt.1, human |
Organism-specific databases
CTDi | 22856 |
DisGeNETi | 22856 |
GeneCardsi | CHSY1 |
HGNCi | HGNC:17198, CHSY1 |
HPAi | ENSG00000131873, Tissue enhanced (placenta) |
MalaCardsi | CHSY1 |
MIMi | 605282, phenotype 608183, gene |
neXtProti | NX_Q86X52 |
OpenTargetsi | ENSG00000131873 |
Orphaneti | 363417, Temtamy preaxial brachydactyly syndrome |
PharmGKBi | PA26509 |
VEuPathDBi | HostDB:ENSG00000131873.5 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3588, Eukaryota |
GeneTreei | ENSGT01010000222296 |
HOGENOMi | CLU_016244_2_0_1 |
InParanoidi | Q86X52 |
OMAi | FLGQTGM |
OrthoDBi | 442283at2759 |
PhylomeDBi | Q86X52 |
TreeFami | TF318303 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS13400-MONOMER |
BRENDAi | 2.4.1.175, 2681 |
PathwayCommonsi | Q86X52 |
Reactomei | R-HSA-2022870, Chondroitin sulfate biosynthesis R-HSA-3595177, Defective CHSY1 causes TPBS |
SABIO-RKi | Q86X52 |
Miscellaneous databases
BioGRID-ORCSi | 22856, 5 hits in 878 CRISPR screens |
ChiTaRSi | CHSY1, human |
GeneWikii | CHSY1 |
GenomeRNAii | 22856 |
Pharosi | Q86X52, Tbio |
PROi | PR:Q86X52 |
RNActi | Q86X52, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131873, Expressed in chorionic villus and 240 other tissues |
ExpressionAtlasi | Q86X52, baseline and differential |
Genevisiblei | Q86X52, HS |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR008428, Chond_GalNAc IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF05679, CHGN, 1 hit |
SUPFAMi | SSF53448, SSF53448, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CHSS1_HUMAN | |
Accessioni | Q86X52Primary (citable) accession number: Q86X52 Secondary accession number(s): Q6UX38, Q7LFU5, Q9Y2J5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 2005 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 10, 2021 | |
This is version 159 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families