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Protein

Chondroitin sulfate synthase 1

Gene

CHSY1

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

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

UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan.
UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

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 keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi633Divalent metal cationSequence analysis1
Metal bindingi747Divalent metal cationSequence analysis1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionTransferase
LigandMetal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS13400-MONOMER.
BRENDAi2.4.1.175. 2681.
ReactomeiR-HSA-2022870. Chondroitin sulfate biosynthesis.
SABIO-RKiQ86X52.

Protein family/group databases

CAZyiGT31. 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000131873.5.
HGNCiHGNC:17198. CHSY1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini29 – 802LumenalSequence analysisAdd BLAST774

Keywords - Cellular componenti

Golgi apparatus, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Temtamy preaxial brachydactyly syndrome (TPBS)2 Publications
The disease is caused by mutations 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.
See also OMIM:605282
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06582119 – 28Missing in TPBS. 1 Publication10
Natural variantiVAR_065822539P → R in TPBS. 1 PublicationCorresponds to variant dbSNP:rs387906985Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi22856.
MalaCardsiCHSY1.
MIMi605282. phenotype.
OpenTargetsiENSG00000131873.
Orphaneti363417. Temtamy preaxial brachydactyly syndrome.
PharmGKBiPA26509.

Polymorphism and mutation databases

BioMutaiCHSY1.
DMDMi116241296.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001895581 – 802Chondroitin sulfate synthase 1Add BLAST802

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi189N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi623N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi796N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ86X52.
MaxQBiQ86X52.
PaxDbiQ86X52.
PeptideAtlasiQ86X52.
PRIDEiQ86X52.

PTM databases

iPTMnetiQ86X52.
PhosphoSitePlusiQ86X52.

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

BgeeiENSG00000131873.
CleanExiHS_CHSY1.
GenevisibleiQ86X52. HS.

Organism-specific databases

HPAiHPA048902.

Interactioni

Subunit structurei

Binds CHPF.

Protein-protein interaction databases

BioGridi116526. 21 interactors.
IntActiQ86X52. 3 interactors.
STRINGi9606.ENSP00000254190.

Structurei

3D structure databases

ProteinModelPortaliQ86X52.
SMRiQ86X52.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi449 – 454Poly-Leu6

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3588. Eukaryota.
ENOG410XNYM. LUCA.
GeneTreeiENSGT00760000119143.
HOGENOMiHOG000220809.
HOVERGENiHBG050948.
InParanoidiQ86X52.
KOiK13499.
OMAiYIKGDRL.
OrthoDBiEOG091G0LHP.
PhylomeDBiQ86X52.
TreeFamiTF318303.

Family and domain databases

Gene3Di3.90.550.10. 2 hits.
InterProiView protein in InterPro
IPR008428. Chond_GalNAc.
IPR029044. Nucleotide-diphossugar_trans.
PfamiView protein in Pfam
PF05679. CHGN. 1 hit.
SUPFAMiSSF53448. SSF53448. 3 hits.

Sequencei

Sequence statusi: Complete.

Q86X52-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:802
Mass (Da):91,784
Last modified:October 17, 2006 - v3
Checksum:i5B4C02670332FA0E
GO

Sequence cautioni

The sequence BAA76834 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti274Q → R in AAQ88893 (PubMed:12975309).Curated1
Sequence conflicti588R → T in BAB64936 (PubMed:11514575).Curated1
Sequence conflicti588R → T in BAA76834 (PubMed:10231032).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06582119 – 28Missing in TPBS. 1 Publication10
Natural variantiVAR_021173359P → S. Corresponds to variant dbSNP:rs3743193Ensembl.1
Natural variantiVAR_065822539P → R in TPBS. 1 PublicationCorresponds to variant dbSNP:rs387906985Ensembl.1
Natural variantiVAR_028009652Q → 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.
CCDSiCCDS10390.1.
RefSeqiNP_055733.2. NM_014918.4.
UniGeneiHs.110488.

Genome annotation databases

EnsembliENST00000254190; ENSP00000254190; ENSG00000131873.
GeneIDi22856.
KEGGihsa:22856.
UCSCiuc021sxt.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCHSS1_HUMAN
AccessioniPrimary (citable) accession number: Q86X52
Secondary accession number(s): Q6UX38, Q7LFU5, Q9Y2J5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: October 17, 2006
Last modified: September 27, 2017
This is version 138 of the entry and version 3 of the sequence. See 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 15
    Human chromosome 15: 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