2. Gene
  3. GXYLT1 - glucoside xylosyltransferase 1 Gene

GXYLT1 - glucoside xylosyltransferase 1 Gene

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

中文名称：糖苷木糖基转移酶 1

种属: Homo sapiens

同用名: GLT8D3

基因 ID: 283464 | 基因类型: protein coding

关于 GXYLT1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:42,081,845-42,144,874 (from NCBI)

This gene has 2 transcripts (splice variants), 282 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 5.6), thyroid (RPKM 5.4) and 25 other tissues.

功能概要

GXYLT1 是一种木糖基转移酶 (EC 2.4.2.-) ，可将第一个木糖添加到表皮生长因子 (EGF；MIM 131530) 蛋白质重复序列中的 O-葡萄糖修饰残基，例如 NOTCH1 (MIM 190198) (Sethi 等人。 , 2010 [PubMed 19940119]) .[OMIM 提供，2010 年 3 月]

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

GXYLT1 基因产物(2)

mRNA Protein Name
NM_001099650.2 NP_001093120.1 glucoside xylosyltransferase 1 isoform 2
NM_173601.2 NP_775872.1 glucoside xylosyltransferase 1 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 UDP-xylosyltransferase activity IDA
IDA: 通过直接分析推断
19940119 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in O-glycan processing IDA
IDA: 通过直接分析推断
19940119 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

GXYLT1 蛋白结构

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (175 - 364)

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

glucoside xylosyltransferase 1

glycosyltransferase 8 domain containing 3

关联疾病

疾病名称 别名
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Limb-Girdle Muscular Dystrophy 21
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes

Cronkhite-Canada Syndrome

Gastric Cronkhite Canada Polyposis

Cronkhite-Canada Disease

Polyposis Skin Pigmentation Alopecia Fingernail Changes

Gastrointestinal Polyposis-Ectodermal Changes Syndrome

Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome

Polyposis, Gastrointestinal, With Ectodermal Changes
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal
Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull
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-RS05928 GXYLT1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus GXYLT1 VGNC VGNC:62742
Rattus norvegicus GXYLT1 RGD RGD:1563062
Bos taurus GXYLT1 VGNC VGNC:29726
Canis familiaris GXYLT1 VGNC VGNC:57426
Mus musculus GXYLT1 MGD MGI:2684933
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