1. Gene
  2. CHST3 - carbohydrate sulfotransferase 3 Gene

CHST3 - carbohydrate sulfotransferase 3 Gene

中文名称:碳水化合物磺基转移酶 3

种属: Homo sapiens

同用名: HSD; C6ST; C6ST1

基因 ID: 9469 | 基因类型: protein coding

关于 CHST3

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,964,395-72,013,558 (from NCBI)

This gene has 1 transcript (splice variant), 247 orthologues, 6 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 10.9), ovary (RPKM 8.0) and 21 other tissues.

功能概要

该基因编码一种催化软骨素硫酸化的酶,软骨素是一种在细胞外基质和大多数细胞中发现的蛋白多糖,参与细胞迁移和分化。该基因的突变与脊椎骨骺发育不良和肱脊柱发育不良有关。[RefSeq 提供,2009 年 3 月]

This gene encodes an Enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

CHST3 基因产物(1)

mRNA Protein Name
NM_004273.5 NP_004264.2 carbohydrate sulfotransferase 3
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chondroitin 6-sulfotransferase activity IDA
IDA: 通过直接分析推断
9883891 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chondroitin sulfate biosynthetic process IDA
IDA: 通过直接分析推断
9883891 GOA
involved in chondroitin sulfate biosynthetic process IMP
IMP: 通过突变表型推断
15215498 GOA
involved in sulfur compound metabolic process IDA
IDA: 通过直接分析推断
9883891 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

CHST3 蛋白结构

Sulfotransfer_1

Sulfotransfer_1: Sulfotransferase domain (133 - 452)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 479 a.a.
蛋白主名 其他名称

carbohydrate sulfotransferase 3

C6ST-1

关联疾病

疾病名称 别名
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

Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Congenital Joint Dislocations
Dysostosis

Dysostoses

Desbuquois Dysplasia

Desbuquois Syndrome

Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

Dysplasia, Desbuquois

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Ehlers-Danlos Syndrome, Musculocontractural Type 1

EDSMC1

Edsmc

Adducted Thumb-Clubfoot Syndrome

Atcs

Dundar Syndrome

Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis

Ehlers-Danlos Syndrome Musculocontractural Type 1

Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Adducted Thumbs-Arthrogryposis Dundar Type

Arthrogryposis Distal With Peculiar Facies And Hydronephrosis

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos, Musculocontractural Syndrome, Type 1

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

Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia

Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

SWILS

Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

Macular Dystrophy, Corneal

Macular Corneal Dystrophy

MCD

Corneal Dystrophy, Macular Type

Groenouw Type Ii Corneal Dystrophy

Fehr Corneal Dystrophy

Macular Dystrophy, Corneal Type 1

Mcdc1

Macular Corneal Dystrophy Type Ii

Macular Corneal Dystrophy, Type Ii

Macular Corneal Dystrophy, Type I

Mcdc1, Formerly

Macular Dystrophy, Corneal, 1

Macular Corneal Dystrophy Type 1

Corneal Dystrophy Groenouw Type Ii

Corneal Dystrophy Macular Type

Macular Corneal Dystrophy Type I

Dystrophy, Macular, Corneal

Brachyolmia

Brachyrachia

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CHST3 MGD MGI:1858224
Felis catus CHST3 VGNC VGNC:60890
Rattus norvegicus CHST3 RGD RGD:620355
Macaca mulatta CHST3 VGNC VGNC:106024
Canis familiaris CHST3 VGNC VGNC:39255
Bos taurus CHST3 VGNC VGNC:27345
Others CHST3 NCBI