1. Gene
  2. CHST11 - carbohydrate sulfotransferase 11 Gene

CHST11 - carbohydrate sulfotransferase 11 Gene

中文名称:碳水化合物磺基转移酶 11

种属: Homo sapiens

同用名: C4ST; C4ST1; OCBMD; C4ST-1; HSA269537

基因 ID: 50515 | 基因类型: protein coding

关于 CHST11

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:104,456,948-104,762,014 (from NCBI)

This gene has 6 transcripts (splice variants), 197 orthologues, 6 paralogues and is associated with 63 phenotypes. Ubiquitous expression in appendix (RPKM 8.6), brain (RPKM 8.5) and 23 other tissues.

功能概要

该基因编码的蛋白质属于磺基转移酶 2 家族。它定位于高尔基体膜,催化硫酸盐转移到软骨素的 N-乙酰半乳糖胺 (GalNAc) 残基的 4 位。硫酸软骨素构成软骨中存在的主要蛋白多糖,分布在许多细胞和细胞外基质的表面。据报道,一名 B 细胞慢性淋巴细胞白血病患者发生了涉及该基因和 IgH、t (12;14) (q23;q32) 的染色体易位。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 8 月]

The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

CHST11 基因产物(2)

mRNA Protein Name
NM_001173982.2 NP_001167453.1 carbohydrate sulfotransferase 11 isoform 2
NM_018413.6 NP_060883.1 carbohydrate sulfotransferase 11 isoform 1
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 N-acetylgalactosamine 4-O-sulfotransferase activity IDA
IDA: 通过直接分析推断
11056388 GOA
enables chondroitin 4-sulfotransferase activity IDA
IDA: 通过直接分析推断
11056388 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
11056388 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

CHST11 蛋白结构

Sulfotransfer_2

Sulfotransfer_2: Sulfotransferase family (109 - 344)

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

carbohydrate sulfotransferase 11

C4S-1

重组 CHST11 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76257 CHST11 Protein, Human (sf9, His) Q9NPF2-2 (M36-E347) ≥95%

关联疾病

疾病名称 别名
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits

OCBMD

Mucinoses
Brachydactyly
Costello Syndrome

Faciocutaneoskeletal Syndrome

Fcs Syndrome

Congenital Myopathy With Excess Of Muscle Spindles

CSTLO

CMEMS

Fcss

Myopathy, Congenital, With Excess Of Muscle Spindles

Progressive Pseudorheumatoid Dysplasia

Progressive Pseudorheumatoid Arthropathy Of Childhood

Arthropathy, Progressive Pseudorheumatoid, Of Childhood

Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

Ppd

Ppac

Sedt-Pa

Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome

PPRD

Progressive Pseudorheumatoid Chondrodysplasia

Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy

Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

Dysplasia, Pseudorheumatoid, Progressive

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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

Scoliosis
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
Rattus norvegicus CHST11 RGD RGD:1308400
Canis familiaris CHST11 VGNC VGNC:39251
Felis catus CHST11 VGNC VGNC:83532
Mus musculus CHST11 MGD MGI:1927166
Bos taurus CHST11 VGNC VGNC:27339
Macaca mulatta CHST11 VGNC VGNC:82123
Others CHST11 NCBI