CHSY1 | ENSG00000131873 | NCBI 22856

Details for: CHSY1

Gene ID: 22856

Symbol: CHSY1

Ensembl ID: ENSG00000131873

Description: chondroitin sulfate synthase 1

Associated with

Chondroitin sulfate/dermatan sulfate metabolism
(R-HSA-1793185)
Chondroitin sulfate biosynthesis
(R-HSA-2022870)
Defective chsy1 causes tpbs
(R-HSA-3595177)
Disease
(R-HSA-1643685)
Diseases associated with glycosaminoglycan metabolism
(R-HSA-3560782)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Glycosaminoglycan metabolism
(R-HSA-1630316)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Bone morphogenesis
(GO:0060349)
Chondrocyte development
(GO:0002063)
Chondroitin sulfate biosynthetic process
(GO:0030206)
Extracellular region
(GO:0005576)
Glucuronosyl-n-acetylgalactosaminyl-proteoglycan 4-beta-n-acetylgalactosaminyltransferase activity
(GO:0047238)
Golgi cisterna membrane
(GO:0032580)
Golgi membrane
(GO:0000139)
Membrane
(GO:0016020)
Metal ion binding
(GO:0046872)
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity
(GO:0050510)
Negative regulation of ossification
(GO:0030279)
Positive regulation of smoothened signaling pathway
(GO:0045880)
Proximal/distal pattern formation
(GO:0009954)
Response to nutrient levels
(GO:0031667)
Sulfation
(GO:0051923)

Other Information

Proteins

Chondroitin glucuronyltransferase 1

Genular Protein ID: 3798243640

Symbol: CHSS1_HUMAN

Name: Chondroitin glucuronyltransferase 1

UniProtKB Accession Codes:

Q86X52 Q6UX38 Q7LFU5 Q9Y2J5

Database IDs:

Citations:

PubMed ID: 11514575

Title: Molecular cloning and expression of a human chondroitin synthase.

PubMed ID: 11514575

DOI: 10.1074/jbc.m106871200

PubMed ID: 10231032

Title: 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.

PubMed ID: 10231032

DOI: 10.1093/dnares/6.1.63

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12716890

Title: Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization.

PubMed ID: 12716890

DOI: 10.1074/jbc.m302493200

PubMed ID: 12907687

Title: Chondroitin sulfate synthase-3. Molecular cloning and characterization.

PubMed ID: 12907687

DOI: 10.1074/jbc.m304421200

PubMed ID: 21129727

Title: Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

PubMed ID: 21129727

DOI: 10.1016/j.ajhg.2010.11.005

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 21129728

Title: Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

PubMed ID: 21129728

DOI: 10.1016/j.ajhg.2010.10.003

Sequence Information:

Length: 802
Mass: 91784
Checksum: 5B4C02670332FA0E
Sequence:

MAARGRRAWL SVLLGLVLGF VLASRLVLPR ASELKRAGPR RRASPEGCRS GQAAASQAGG 
ARGDARGAQL WPPGSDPDGG PRDRNFLFVG VMTAQKYLQT RAVAAYRTWS KTIPGKVQFF 
SSEGSDTSVP IPVVPLRGVD DSYPPQKKSF MMLKYMHDHY LDKYEWFMRA DDDVYIKGDR 
LENFLRSLNS SEPLFLGQTG LGTTEEMGKL ALEPGENFCM GGPGVIMSRE VLRRMVPHIG 
KCLREMYTTH EDVEVGRCVR RFAGVQCVWS YEMQQLFYEN YEQNKKGYIR DLHNSKIHQA 
ITLHPNKNPP YQYRLHSYML SRKISELRHR TIQLHREIVL MSKYSNTEIH KEDLQLGIPP 
SFMRFQPRQR EEILEWEFLT GKYLYSAVDG QPPRRGMDSA QREALDDIVM QVMEMINANA 
KTRGRIIDFK EIQYGYRRVN PMYGAEYILD LLLLYKKHKG KKMTVPVRRH AYLQQTFSKI 
QFVEHEELDA QELAKRINQE SGSLSFLSNS LKKLVPFQLP GSKSEHKEPK DKKINILIPL 
SGRFDMFVRF MGNFEKTCLI PNQNVKLVVL LFNSDSNPDK AKQVELMRDY RIKYPKADMQ 
ILPVSGEFSR ALALEVGSSQ FNNESLLFFC DVDLVFTTEF LQRCRANTVL GQQIYFPIIF 
SQYDPKIVYS GKVPSDNHFA FTQKTGFWRN YGFGITCIYK GDLVRVGGFD VSIQGWGLED 
VDLFNKVVQA GLKTFRSQEV GVVHVHHPVF CDPNLDPKQY KMCLGSKAST YGSTQQLAEM 
WLEKNDPSYS KSSNNNGSVR TA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CHSY1

Associated with

Other Information

Molecular cloning and expression of a human chondroitin synthase. PubMed ID: 11514575

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. PubMed ID: 10231032

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. PubMed ID: 12975309

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization. PubMed ID: 12716890

Chondroitin sulfate synthase-3. Molecular cloning and characterization. PubMed ID: 12907687

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. PubMed ID: 21129727

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. PubMed ID: 21129728