Summary of CHSY1
This gene encodes a protein play critical roles in the biosynthesis of chondroitin sulfate, which is needed for cell proliferation and morphogenesis. It is associated with higher risk for colorectal cancer (R).
The Function of CHSY1
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.
Protein names
Recommended name:
Chondroitin sulfate synthase 1Alternative name(s):
Chondroitin glucuronyltransferase 1Chondroitin synthase 1
ChSy-1
Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1
N-acetylgalactosaminyltransferase 1
- RS12593811 (CHSY1) ??
- RS752092 (CHSY1) ??
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Top Gene-Substance Interactions
Substances That Increase CHSY1
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Substances That Decrease CHSY1
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Advanced Summary
From NCBI Gene: Temtamy preaxial brachydactyly syndromeFrom UniProt: Temtamy preaxial brachydactyly syndrome (TPBS): 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. [MIM:605282]
From NCBI Gene: This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011] From UniProt: 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.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
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.
Gene Pathways:
Cofactor:
Divalent metal cations. Highest activities are measured with Co(2+), Mn(2+) and Cd(2+).
Molecular Function:
- Metal Ion Binding
- Glucuronosyl-N-Acetylgalactosaminyl-Proteoglycan 4-Beta-N-Acetylgalactosaminyltransferase Activity
- N-Acetylgalactosaminyl-Proteoglycan 3-Beta-Glucuronosyltransferase Activity
Biological Processes:
- Chondrocyte Development
- Proximal/Distal Pattern Formation
- Chondroitin Sulfate Biosynthetic Process
- Negative Regulation Of Ossification
- Response To Nutrient Levels
- Positive Regulation Of Smoothened Signaling Pathway
- Sulfation
- Bone Morphogenesis