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Protein

Carbohydrate sulfotransferase 3

Gene

CHST3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi141 – 1477PAPSBy similarity
Nucleotide bindingi301 – 3099PAPSBy similarity

GO - Molecular functioni

  1. chondroitin 6-sulfotransferase activity Source: UniProtKB
  2. proteoglycan sulfotransferase activity Source: Ensembl
  3. sulfotransferase activity Source: ProtInc

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. chondroitin sulfate biosynthetic process Source: UniProtKB
  3. chondroitin sulfate metabolic process Source: Reactome
  4. glycosaminoglycan metabolic process Source: Reactome
  5. pathogenesis Source: Reactome
  6. regulation of mitochondrion degradation Source: ParkinsonsUK-UCL
  7. small molecule metabolic process Source: Reactome
  8. sulfur compound metabolic process Source: UniProtKB
  9. T cell homeostasis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Carbohydrate metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS04610-MONOMER.
BRENDAi2.8.2.17. 2681.
ReactomeiREACT_120989. Chondroitin sulfate biosynthesis.
REACT_267648. 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:1971. CHST3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei21 – 3818Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini39 – 479441LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)

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.

See also OMIM:143095
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221R → W in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
VAR_047856
Natural varianti259 – 2591L → P in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
VAR_047857
Natural varianti304 – 3041R → Q in SEDC-JD; reduced enzyme activity. 1 Publication
Corresponds to variant rs28937593 [ dbSNP | Ensembl ].
VAR_021413
Natural varianti307 – 3071L → P in SEDC-JD. 1 Publication
VAR_047858
Natural varianti372 – 3721E → K in SEDC-JD. 1 Publication
VAR_047859

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi143095. phenotype.
Orphaneti263463. CHST3-related skeletal dysplasia.
PharmGKBiPA26503.

Polymorphism and mutation databases

BioMutaiCHST3.
DMDMi116241297.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 479479Carbohydrate sulfotransferase 3PRO_0000085188Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi63 – 631N-linked (GlcNAc...)Sequence Analysis
Glycosylationi74 – 741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi96 – 961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi256 – 2561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi420 – 4201N-linked (GlcNAc...)Sequence Analysis
Glycosylationi464 – 4641N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ7LGC8.
PaxDbiQ7LGC8.
PRIDEiQ7LGC8.

PTM databases

PhosphoSiteiQ7LGC8.

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

BgeeiQ7LGC8.
CleanExiHS_CHST3.
GenevestigatoriQ7LGC8.

Organism-specific databases

HPAiHPA047523.
HPA055704.

Interactioni

Protein-protein interaction databases

BioGridi114855. 4 interactions.
STRINGi9606.ENSP00000362207.

Structurei

3D structure databases

ProteinModelPortaliQ7LGC8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG80862.
GeneTreeiENSGT00530000062902.
HOGENOMiHOG000261614.
HOVERGENiHBG106811.
InParanoidiQ7LGC8.
KOiK01020.
OMAiDCRDFLH.
OrthoDBiEOG7RZ5S0.
PhylomeDBiQ7LGC8.
TreeFamiTF342871.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR016469. Carbohydrate_sulfotransferase.
IPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view]
PfamiPF00685. Sulfotransfer_1. 1 hit.
[Graphical view]
PIRSFiPIRSF005883. Carbohydrate_sulfotransferase. 1 hit.
SUPFAMiSSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

Q7LGC8-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:479
Mass (Da):54,706
Last modified:October 17, 2006 - v3
Checksum:i7C290DC4970F66E0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti387 – 3871R → P in BAA32576 (PubMed:9714738).Curated
Sequence conflicti443 – 4431A → P in BAA32576 (PubMed:9714738).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221R → W in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
VAR_047856
Natural varianti259 – 2591L → P in SEDC-JD; severely impairs or abolishes the enzyme function. 1 Publication
VAR_047857
Natural varianti304 – 3041R → Q in SEDC-JD; reduced enzyme activity. 1 Publication
Corresponds to variant rs28937593 [ dbSNP | Ensembl ].
VAR_021413
Natural varianti307 – 3071L → P in SEDC-JD. 1 Publication
VAR_047858
Natural varianti348 – 3481I → M.
Corresponds to variant rs3740128 [ dbSNP | Ensembl ].
VAR_021414
Natural varianti357 – 3571R → Q.2 Publications
Corresponds to variant rs3740129 [ dbSNP | Ensembl ].
VAR_021415
Natural varianti372 – 3721E → K in SEDC-JD. 1 Publication
VAR_047859

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.
CCDSiCCDS7312.1.
RefSeqiNP_004264.2. NM_004273.4.
XP_006718138.1. XM_006718075.2.
UniGeneiHs.158304.

Genome annotation databases

EnsembliENST00000373115; ENSP00000362207; ENSG00000122863.
GeneIDi9469.
KEGGihsa:9469.
UCSCiuc001jsn.3. human.

Polymorphism and mutation databases

BioMutaiCHST3.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

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.
CCDSiCCDS7312.1.
RefSeqiNP_004264.2. NM_004273.4.
XP_006718138.1. XM_006718075.2.
UniGeneiHs.158304.

3D structure databases

ProteinModelPortaliQ7LGC8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114855. 4 interactions.
STRINGi9606.ENSP00000362207.

PTM databases

PhosphoSiteiQ7LGC8.

Polymorphism and mutation databases

BioMutaiCHST3.
DMDMi116241297.

Proteomic databases

MaxQBiQ7LGC8.
PaxDbiQ7LGC8.
PRIDEiQ7LGC8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373115; ENSP00000362207; ENSG00000122863.
GeneIDi9469.
KEGGihsa:9469.
UCSCiuc001jsn.3. human.

Organism-specific databases

CTDi9469.
GeneCardsiGC10P073724.
GeneReviewsiCHST3.
HGNCiHGNC:1971. CHST3.
HPAiHPA047523.
HPA055704.
MIMi143095. phenotype.
603799. gene.
neXtProtiNX_Q7LGC8.
Orphaneti263463. CHST3-related skeletal dysplasia.
PharmGKBiPA26503.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG80862.
GeneTreeiENSGT00530000062902.
HOGENOMiHOG000261614.
HOVERGENiHBG106811.
InParanoidiQ7LGC8.
KOiK01020.
OMAiDCRDFLH.
OrthoDBiEOG7RZ5S0.
PhylomeDBiQ7LGC8.
TreeFamiTF342871.

Enzyme and pathway databases

BioCyciMetaCyc:HS04610-MONOMER.
BRENDAi2.8.2.17. 2681.
ReactomeiREACT_120989. Chondroitin sulfate biosynthesis.
REACT_267648. Defective CHST3 causes SEDCJD.

Miscellaneous databases

GenomeRNAii9469.
NextBioi35486.
PROiQ7LGC8.
SOURCEiSearch...

Gene expression databases

BgeeiQ7LGC8.
CleanExiHS_CHST3.
GenevestigatoriQ7LGC8.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR016469. Carbohydrate_sulfotransferase.
IPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view]
PfamiPF00685. Sulfotransfer_1. 1 hit.
[Graphical view]
PIRSFiPIRSF005883. Carbohydrate_sulfotransferase. 1 hit.
SUPFAMiSSF52540. SSF52540. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and expression of human chondroitin 6-sulfotransferase."
    Fukuta M., Kobayashi Y., Uchimura K., Kimata K., Habuchi O.
    Biochim. Biophys. Acta 1399:57-61(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    Tissue: Fetal brain.
  2. "Functional expression and genomic structure of human chondroitin 6-sulfotransferase."
    Tsutsumi K., Shimakawa H., Kitagawa H., Sugahara K.
    FEBS Lett. 441:235-241(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
    Tissue: Placenta.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-357.
    Tissue: Liver.
  4. "Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement."
    Thiele H., Sakano M., Kitagawa H., Sugahara K., Rajab A., Hoehne W., Ritter H., Leschik G., Nuernberg P., Mundlos S.
    Proc. Natl. Acad. Sci. U.S.A. 101:10155-10160(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SEDC-JD GLN-304.
  5. "Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis."
    Hermanns P., Unger S., Rossi A., Perez-Aytes A., Cortina H., Bonafe L., Boccone L., Setzu V., Dutoit M., Sangiorgi L., Pecora F., Reicherter K., Nishimura G., Spranger J., Zabel B., Superti-Furga A.
    Am. J. Hum. Genet. 82:1368-1374(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SEDC-JD TRP-222; PRO-259; PRO-307 AND LYS-372, VARIANT GLN-357, CHARACTERIZATION OF VARIANTS SEDC-JD TRP-222 AND PRO-259.

Entry informationi

Entry nameiCHST3_HUMAN
AccessioniPrimary (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: April 29, 2015
This is version 108 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.