UniProtKB - Q7LGC8 (CHST3_HUMAN)
Protein
Carbohydrate sulfotransferase 3
Gene
CHST3
Organism
Homo sapiens (Human)
Status
Functioni
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen.2 Publications
Catalytic activityi
- n 3'-phosphoadenylyl sulfate + chondroitin β-D-glucuronate = n adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate + 2 H+EC:2.8.2.17
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 141 – 147 | PAPSBy similarity | 7 | |
Nucleotide bindingi | 301 – 309 | PAPSBy similarity | 9 |
GO - Molecular functioni
- chondroitin 6-sulfotransferase activity Source: UniProtKB
- N-acetylglucosamine 6-O-sulfotransferase activity Source: GO_Central
- sulfotransferase activity Source: ProtInc
GO - Biological processi
- carbohydrate metabolic process Source: UniProtKB-KW
- chondroitin sulfate biosynthetic process Source: UniProtKB
- N-acetylglucosamine metabolic process Source: GO_Central
- sulfur compound metabolic process Source: UniProtKB
Keywordsi
Molecular function | Transferase |
Biological process | Carbohydrate metabolism |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04610-MONOMER |
BRENDAi | 2.8.2.17, 2681 |
PathwayCommonsi | Q7LGC8 |
Reactomei | R-HSA-2022870, Chondroitin sulfate biosynthesis R-HSA-3595172, Defective CHST3 causes SEDCJD |
Names & Taxonomyi
Protein namesi | Recommended name: Carbohydrate sulfotransferase 3 (EC:2.8.2.17)Alternative name(s): Chondroitin 6-O-sulfotransferase 1 Short name: C6ST-1 Chondroitin 6-sulfotransferase Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0 Short name: GST-0 |
Gene namesi | Name:CHST3 |
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
EuPathDBi | HostDB:ENSG00000122863.5 |
HGNCi | HGNC:1971, CHST3 |
MIMi | 603799, gene |
neXtProti | NX_Q7LGC8 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane By similarity; Single-pass type II membrane protein By similarity
Golgi apparatus
- Golgi membrane Source: Reactome
- trans-Golgi network Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 20 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 21 – 38 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 18 | |
Topological domaini | 39 – 479 | LumenalSequence analysisAdd BLAST | 441 |
Keywords - Cellular componenti
Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047856 | 222 | R → W in SEDCJD; severely impairs or abolishes the enzyme function. 1 PublicationCorresponds to variant dbSNP:rs121908617EnsemblClinVar. | 1 | |
Natural variantiVAR_047857 | 259 | L → P in SEDCJD; severely impairs or abolishes the enzyme function. 1 PublicationCorresponds to variant dbSNP:rs121908616EnsemblClinVar. | 1 | |
Natural variantiVAR_021413 | 304 | R → Q in SEDCJD; abolishes enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs28937593EnsemblClinVar. | 1 | |
Natural variantiVAR_047858 | 307 | L → P in SEDCJD. 1 PublicationCorresponds to variant dbSNP:rs121908618EnsemblClinVar. | 1 | |
Natural variantiVAR_047859 | 372 | E → K in SEDCJD. 1 PublicationCorresponds to variant dbSNP:rs267606734EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 9469 |
GeneReviewsi | CHST3 |
MalaCardsi | CHST3 |
MIMi | 143095, phenotype |
OpenTargetsi | ENSG00000122863 |
Orphaneti | 263463, CHST3-related skeletal dysplasia |
PharmGKBi | PA26503 |
Miscellaneous databases
Pharosi | Q7LGC8, Tbio |
Polymorphism and mutation databases
BioMutai | CHST3 |
DMDMi | 116241297 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000085188 | 1 – 479 | Carbohydrate sulfotransferase 3Add BLAST | 479 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 63 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 74 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 96 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 256 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 420 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 464 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
CPTACi | CPTAC-1483 |
EPDi | Q7LGC8 |
jPOSTi | Q7LGC8 |
MassIVEi | Q7LGC8 |
MaxQBi | Q7LGC8 |
PaxDbi | Q7LGC8 |
PeptideAtlasi | Q7LGC8 |
PRIDEi | Q7LGC8 |
ProteomicsDBi | 68868 |
PTM databases
GlyGeni | Q7LGC8, 6 sites |
iPTMneti | Q7LGC8 |
PhosphoSitePlusi | Q7LGC8 |
Expressioni
Tissue specificityi
Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix.1 Publication
Gene expression databases
Bgeei | ENSG00000122863, Expressed in tibia and 188 other tissues |
Genevisiblei | Q7LGC8, HS |
Organism-specific databases
HPAi | ENSG00000122863, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 114855, 7 interactors |
IntActi | Q7LGC8, 5 interactors |
STRINGi | 9606.ENSP00000362207 |
Miscellaneous databases
RNActi | Q7LGC8, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QWEX, Eukaryota |
GeneTreei | ENSGT00940000161045 |
HOGENOMi | CLU_028381_3_2_1 |
InParanoidi | Q7LGC8 |
OMAi | TMASESC |
OrthoDBi | 1246608at2759 |
PhylomeDBi | Q7LGC8 |
TreeFami | TF342871 |
Family and domain databases
InterProi | View protein in InterPro IPR016469, Carbohydrate_sulfotransferase IPR027417, P-loop_NTPase IPR000863, Sulfotransferase_dom |
Pfami | View protein in Pfam PF00685, Sulfotransfer_1, 1 hit |
PIRSFi | PIRSF005883, Carbohydrate_sulfotransferase, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
i Sequence
Sequence statusi: Complete.
Q7LGC8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEKGLTLPQD CRDFVHSLKM RSKYALFLVF VVIVFVFIEK ENKIISRVSD
60 70 80 90 100
KLKQIPQALA DANSTDPALI LAENASLLSL SELDSAFSQL QSRLRNLSLQ
110 120 130 140 150
LGVEPAMEAA GEEEEEQRKE EEPPRPAVAG PRRHVLLMAT TRTGSSFVGE
160 170 180 190 200
FFNQQGNIFY LFEPLWHIER TVSFEPGGAN AAGSALVYRD VLKQLFLCDL
210 220 230 240 250
YVLEHFITPL PEDHLTQFMF RRGSSRSLCE DPVCTPFVKK VFEKYHCKNR
260 270 280 290 300
RCGPLNVTLA AEACRRKEHM ALKAVRIRQL EFLQPLAEDP RLDLRVIQLV
310 320 330 340 350
RDPRAVLASR MVAFAGKYKT WKKWLDDEGQ DGLREEEVQR LRGNCESIRL
360 370 380 390 400
SAELGLRQPA WLRGRYMLVR YEDVARGPLQ KAREMYRFAG IPLTPQVEDW
410 420 430 440 450
IQKNTQAAHD GSGIYSTQKN SSEQFEKWRF SMPFKLAQVV QAACGPAMRL
460 470
FGYKLARDAA ALTNRSVSLL EERGTFWVT
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 387 | R → P in BAA32576 (PubMed:9714738).Curated | 1 | |
Sequence conflicti | 443 | A → P in BAA32576 (PubMed:9714738).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047856 | 222 | R → W in SEDCJD; severely impairs or abolishes the enzyme function. 1 PublicationCorresponds to variant dbSNP:rs121908617EnsemblClinVar. | 1 | |
Natural variantiVAR_047857 | 259 | L → P in SEDCJD; severely impairs or abolishes the enzyme function. 1 PublicationCorresponds to variant dbSNP:rs121908616EnsemblClinVar. | 1 | |
Natural variantiVAR_021413 | 304 | R → Q in SEDCJD; abolishes enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs28937593EnsemblClinVar. | 1 | |
Natural variantiVAR_047858 | 307 | L → P in SEDCJD. 1 PublicationCorresponds to variant dbSNP:rs121908618EnsemblClinVar. | 1 | |
Natural variantiVAR_021414 | 348 | I → M. Corresponds to variant dbSNP:rs3740128Ensembl. | 1 | |
Natural variantiVAR_021415 | 357 | R → Q2 PublicationsCorresponds to variant dbSNP:rs3740129EnsemblClinVar. | 1 | |
Natural variantiVAR_047859 | 372 | E → K in SEDCJD. 1 PublicationCorresponds to variant dbSNP:rs267606734EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB012192 mRNA Translation: BAA32576.1 AB017915 mRNA Translation: BAA36348.1 BC093690 mRNA Translation: AAH93690.1 BC104856 mRNA Translation: AAI04857.1 |
CCDSi | CCDS7312.1 |
RefSeqi | NP_004264.2, NM_004273.4 XP_006718138.1, XM_006718075.3 XP_011538671.1, XM_011540369.2 |
Genome annotation databases
Ensembli | ENST00000373115; ENSP00000362207; ENSG00000122863 |
GeneIDi | 9469 |
KEGGi | hsa:9469 |
UCSCi | uc001jsn.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB012192 mRNA Translation: BAA32576.1 AB017915 mRNA Translation: BAA36348.1 BC093690 mRNA Translation: AAH93690.1 BC104856 mRNA Translation: AAI04857.1 |
CCDSi | CCDS7312.1 |
RefSeqi | NP_004264.2, NM_004273.4 XP_006718138.1, XM_006718075.3 XP_011538671.1, XM_011540369.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114855, 7 interactors |
IntActi | Q7LGC8, 5 interactors |
STRINGi | 9606.ENSP00000362207 |
PTM databases
GlyGeni | Q7LGC8, 6 sites |
iPTMneti | Q7LGC8 |
PhosphoSitePlusi | Q7LGC8 |
Polymorphism and mutation databases
BioMutai | CHST3 |
DMDMi | 116241297 |
Proteomic databases
CPTACi | CPTAC-1483 |
EPDi | Q7LGC8 |
jPOSTi | Q7LGC8 |
MassIVEi | Q7LGC8 |
MaxQBi | Q7LGC8 |
PaxDbi | Q7LGC8 |
PeptideAtlasi | Q7LGC8 |
PRIDEi | Q7LGC8 |
ProteomicsDBi | 68868 |
Protocols and materials databases
Antibodypediai | 29214, 173 antibodies |
Genome annotation databases
Ensembli | ENST00000373115; ENSP00000362207; ENSG00000122863 |
GeneIDi | 9469 |
KEGGi | hsa:9469 |
UCSCi | uc001jsn.4, human |
Organism-specific databases
CTDi | 9469 |
DisGeNETi | 9469 |
EuPathDBi | HostDB:ENSG00000122863.5 |
GeneCardsi | CHST3 |
GeneReviewsi | CHST3 |
HGNCi | HGNC:1971, CHST3 |
HPAi | ENSG00000122863, Low tissue specificity |
MalaCardsi | CHST3 |
MIMi | 143095, phenotype 603799, gene |
neXtProti | NX_Q7LGC8 |
OpenTargetsi | ENSG00000122863 |
Orphaneti | 263463, CHST3-related skeletal dysplasia |
PharmGKBi | PA26503 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QWEX, Eukaryota |
GeneTreei | ENSGT00940000161045 |
HOGENOMi | CLU_028381_3_2_1 |
InParanoidi | Q7LGC8 |
OMAi | TMASESC |
OrthoDBi | 1246608at2759 |
PhylomeDBi | Q7LGC8 |
TreeFami | TF342871 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS04610-MONOMER |
BRENDAi | 2.8.2.17, 2681 |
PathwayCommonsi | Q7LGC8 |
Reactomei | R-HSA-2022870, Chondroitin sulfate biosynthesis R-HSA-3595172, Defective CHST3 causes SEDCJD |
Miscellaneous databases
BioGRID-ORCSi | 9469, 4 hits in 841 CRISPR screens |
ChiTaRSi | CHST3, human |
GenomeRNAii | 9469 |
Pharosi | Q7LGC8, Tbio |
PROi | PR:Q7LGC8 |
RNActi | Q7LGC8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122863, Expressed in tibia and 188 other tissues |
Genevisiblei | Q7LGC8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016469, Carbohydrate_sulfotransferase IPR027417, P-loop_NTPase IPR000863, Sulfotransferase_dom |
Pfami | View protein in Pfam PF00685, Sulfotransfer_1, 1 hit |
PIRSFi | PIRSF005883, Carbohydrate_sulfotransferase, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CHST3_HUMAN | |
Accessioni | Q7LGC8Primary (citable) accession number: Q7LGC8 Secondary accession number(s): O75099, Q52M30 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 15, 2005 |
Last sequence update: | October 17, 2006 | |
Last modified: | December 2, 2020 | |
This is version 152 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations