2. Gene
  3. CHSY1 - chondroitin sulfate synthase 1 Gene

CHSY1 - chondroitin sulfate synthase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：硫酸软骨素合酶 1

种属: Homo sapiens

同用名: CHSY; CSS1; TPBS; ChSy-1

基因 ID: 22856 | 基因类型: protein coding

关于 CHSY1

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:101,175,727-101,252,048 (from NCBI)

This gene has 6 transcripts (splice variants), 215 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 23.5), gall bladder (RPKM 17.8) and 24 other tissues.

功能概要

该基因编码软骨素 N-乙酰半乳糖氨基转移酶家族的成员。这些酶具有双重葡萄糖醛酸转移酶和半乳糖氨基转移酶活性，并在硫酸软骨素的生物合成中发挥关键作用，硫酸软骨素是一种糖胺聚糖，参与许多生物过程，包括细胞增殖和形态发生。该基因表达减少可能在结直肠癌中发挥作用，并且该基因的突变是造成四肢轴前短指综合征的原因。[RefSeq 提供，2011 年 12 月]

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]

CHSY1 基因产物(1)

mRNA Protein Name
NM_014918.5 NP_055733.2 chondroitin sulfate synthase 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity IDA
IDA: 通过直接分析推断
11514575 GOA
enables glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IDA
IDA: 通过直接分析推断
11514575 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within chondroitin sulfate biosynthetic process IDA
IDA: 通过直接分析推断
11514575 GOA
involved in negative regulation of ossification IMP
IMP: 通过突变表型推断
21129727 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular region IDA
IDA: 通过直接分析推断
21129727 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CHSY1 蛋白结构

CHGN

CHGN: Chondroitin N-acetylgalactosaminyltransferase (238 - 777)

  • 0
  • 200
  • 400
  • 600
  • 802 a.a.
蛋白主名 其他名称

chondroitin sulfate synthase 1

N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1

关联疾病

疾病名称 别名
Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type
Brachydactyly
Breast Pericanalicular Fibroadenoma

Pericanalicular Fibroadenoma

Pericanalicular Fibroadenoma Of Breast
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita
Astigmatism
Desbuquois Dysplasia

Desbuquois Syndrome

Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

Dysplasia, Desbuquois
Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome
Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

Semdjl

Spondyloepimetaphyseal Dysplasia Joint Laxity

Semd-Jl

Semdjl1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02695 CHSY1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CHSY1 VGNC VGNC:70962
Canis familiaris CHSY1 VGNC VGNC:39259
Bos taurus CHSY1 VGNC VGNC:27350
Rattus norvegicus CHSY1 RGD RGD:1311904
Felis catus CHSY1 VGNC VGNC:81004
Mus musculus CHSY1 MGD MGI:2681120
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