Chondroitin sulfate synthase 1 - Homo sapiens (Human)

Contribute

Send feedback

Read comments (?) or add your own

Q86X52 (CHSS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 98. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

text xml rdf/xml gff fasta

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

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 names

Name:	CHSY1
Synonyms:	CHSY, CSS1, KIAA0990
ORF Names:	UNQ756/PRO1487

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	802 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.1 Ref.7
Catalytic activity	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.
Cofactor	Divalent cations. Highest activities are measured with cobalt, manganese and cadmium. Ref.6
Subunit structure	Binds CHPF.
Subcellular location	Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein Probable. Secreted Ref.1 Ref.7.
Tissue specificity	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. Ref.1 Ref.6
Involvement in disease	Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8
Sequence similarities	Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
Sequence caution	The sequence BAA76834.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Metal-binding
Molecular function	Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement. Source: Reactome chondroitin sulfate biosynthetic process Inferred from direct assay Ref.1. Source: MGI negative regulation of ossification Inferred from mutant phenotype Ref.7. Source: UniProtKB response to nutrient levels Inferred from electronic annotation. Source: Compara
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell Golgi membrane Traceable author statement. Source: Reactome extracellular region Inferred from direct assay Ref.7. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity Inferred from electronic annotation. Source: EC glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity Inferred from direct assay Ref.1. Source: MGI metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 802

802

Chondroitin sulfate synthase 1

PRO_0000189558

Regions

Topological domain

1 – 7

Cytoplasmic Potential

Transmembrane

8 – 28

Helical; Signal-anchor for type II membrane protein; Potential

Topological domain

29 – 802

774

Lumenal Potential

Compositional bias

449 – 454

Poly-Leu

Sites

Metal binding

633

Divalent metal cation Potential

Metal binding

747

Divalent metal cation Potential

Amino acid modifications

Glycosylation

189

N-linked (GlcNAc...) Potential

Glycosylation

623

N-linked (GlcNAc...) Potential

Glycosylation

796

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

19 – 28

Missing in TPBS.

VAR_065821

Natural variant

359

P → S.
Corresponds to variant rs3743193 [ dbSNP | Ensembl ].

VAR_021173

Natural variant

539

P → R in TPBS. Ref.8

VAR_065822

Natural variant

652

Q → H.
Corresponds to variant rs4426333 [ dbSNP | Ensembl ].

VAR_028009

Experimental info

Sequence conflict

274

Q → R in AAQ88893. Ref.3

Sequence conflict

588

R → T in BAB64936. Ref.1

Sequence conflict

588

R → T in BAA76834. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

Q86X52 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: 5B4C02670332FA0E
Show »

FASTA

802

91,784

        10         20         30         40         50         60 
MAARGRRAWL SVLLGLVLGF VLASRLVLPR ASELKRAGPR RRASPEGCRS GQAAASQAGG 

        70         80         90        100        110        120 
ARGDARGAQL WPPGSDPDGG PRDRNFLFVG VMTAQKYLQT RAVAAYRTWS KTIPGKVQFF 

       130        140        150        160        170        180 
SSEGSDTSVP IPVVPLRGVD DSYPPQKKSF MMLKYMHDHY LDKYEWFMRA DDDVYIKGDR 

       190        200        210        220        230        240 
LENFLRSLNS SEPLFLGQTG LGTTEEMGKL ALEPGENFCM GGPGVIMSRE VLRRMVPHIG 

       250        260        270        280        290        300 
KCLREMYTTH EDVEVGRCVR RFAGVQCVWS YEMQQLFYEN YEQNKKGYIR DLHNSKIHQA 

       310        320        330        340        350        360 
ITLHPNKNPP YQYRLHSYML SRKISELRHR TIQLHREIVL MSKYSNTEIH KEDLQLGIPP 

       370        380        390        400        410        420 
SFMRFQPRQR EEILEWEFLT GKYLYSAVDG QPPRRGMDSA QREALDDIVM QVMEMINANA 

       430        440        450        460        470        480 
KTRGRIIDFK EIQYGYRRVN PMYGAEYILD LLLLYKKHKG KKMTVPVRRH AYLQQTFSKI 

       490        500        510        520        530        540 
QFVEHEELDA QELAKRINQE SGSLSFLSNS LKKLVPFQLP GSKSEHKEPK DKKINILIPL 

       550        560        570        580        590        600 
SGRFDMFVRF MGNFEKTCLI PNQNVKLVVL LFNSDSNPDK AKQVELMRDY RIKYPKADMQ 

       610        620        630        640        650        660 
ILPVSGEFSR ALALEVGSSQ FNNESLLFFC DVDLVFTTEF LQRCRANTVL GQQIYFPIIF 

       670        680        690        700        710        720 
SQYDPKIVYS GKVPSDNHFA FTQKTGFWRN YGFGITCIYK GDLVRVGGFD VSIQGWGLED 

       730        740        750        760        770        780 
VDLFNKVVQA GLKTFRSQEV GVVHVHHPVF CDPNLDPKQY KMCLGSKAST YGSTQQLAEM 

       790        800 
WLEKNDPSYS KSSNNNGSVR TA

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and expression of a human chondroitin synthase." Kitagawa H., Uyama T., Sugahara K. J. Biol. Chem. 276:38721-38726(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[2]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"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]. Tissue: Brain.
[5]	"Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization." Kitagawa H., Izumikawa T., Uyama T., Sugahara K. J. Biol. Chem. 278:23666-23671(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CHPF.
[6]	"Chondroitin sulfate synthase-3. Molecular cloning and characterization." Yada T., Sato T., Kaseyama H., Gotoh M., Iwasaki H., Kikuchi N., Kwon Y.-D., Togayachi A., Kudo T., Watanabe H., Narimatsu H., Kimata K. J. Biol. Chem. 278:39711-39725(2003) [PubMed] [Europe PMC] [Abstract] Cited for: COFACTOR, TISSUE SPECIFICITY.
[7]	"Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling." Tian J., Ling L., Shboul M., Lee H., O'Connor B., Merriman B., Nelson S.F., Cool S., Ababneh O.H., Al-Hadidy A., Masri A., Hamamy H., Reversade B. Am. J. Hum. Genet. 87:768-778(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN TPBS.
[8]	"Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling." Li Y., Laue K., Temtamy S., Aglan M., Kotan L.D., Yigit G., Canan H., Pawlik B., Nurnberg G., Wakeling E.L., Quarrell O.W., Baessmann I., Lanktree M.B., Yilmaz M., Hegele R.A., Amr K., May K.W., Nurnberg P. , Topaloglu A.K., Hammerschmidt M., Wollnik B. Am. J. Hum. Genet. 87:757-767(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TPBS 19-GLY--LEU-28 DEL AND ARG-539.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Chondroitin sulfate synthase 1

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB071402 mRNA. Translation: BAB64936.1. AB023207 mRNA. Translation: BAA76834.2. Different initiation. AY358529 mRNA. Translation: AAQ88893.1. BC046247 mRNA. Translation: AAH46247.1.
IPI	IPI00329141.
RefSeq	NP_055733.2. NM_014918.4.
UniGene	Hs.110488.
3D structure databases
ProteinModelPortal	Q86X52.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86X52. 1 interaction.
STRING	9606.ENSP00000254190.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31. GT7. Glycosyltransferase Family 7.
PTM databases
PhosphoSite	Q86X52.
Polymorphism databases
DMDM	116241296.
Proteomic databases
PaxDb	Q86X52.
PRIDE	Q86X52.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000254190; ENSP00000254190; ENSG00000131873.
GeneID	22856.
KEGG	hsa:22856.
UCSC	uc010usd.2. human.
Organism-specific databases
CTD	22856.
GeneCards	GC15M101715.
H-InvDB	HIX0172828.
HGNC	HGNC:17198. CHSY1.
HPA	HPA048902.
MIM	605282. phenotype. 608183. gene.
neXtProt	NX_Q86X52.
PharmGKB	PA26509.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG325444.
HOGENOM	HOG000220809.
HOVERGEN	HBG050948.
InParanoid	Q86X52.
KO	K13499.
OMA	DYRIKYP.
OrthoDB	EOG43XV2V.
PhylomeDB	Q86X52.
Enzyme and pathway databases
BioCyc	MetaCyc:HS13400-MONOMER.
BRENDA	2.4.1.175. 2681.
Reactome	REACT_111217. Metabolism. REACT_116125. Disease.
SABIO-RK	Q86X52.
Gene expression databases
Bgee	Q86X52.
CleanEx	HS_CHSY1.
Genevestigator	Q86X52.
GermOnline	ENSG00000131873. Homo sapiens.
Family and domain databases
InterPro	IPR008428. Chond_GalNAc. [Graphical view]
PANTHER	PTHR12369. PTHR12369. 1 hit.
Pfam	PF05679. CHGN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	22856.
NextBio	43341.
SOURCE	Search...

Entry information

Entry name

CHSS1_HUMAN

Accession

Primary (citable) accession number: Q86X52
Secondary accession number(s): Q6UX38, Q7LFU5, Q9Y2J5

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2005
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 98 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.

Relevant documents

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

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

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents