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  2. XXYLT1 - xyloside xylosyltransferase 1 Gene

XXYLT1 - xyloside xylosyltransferase 1 Gene

中文名称:木糖苷木糖基转移酶 1

种属: Homo sapiens

同用名: C3orf21

基因 ID: 152002 | 基因类型: protein coding

关于 XXYLT1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:195,068,284-195,271,159 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 1.4), esophagus (RPKM 1.2) and 24 other tissues.

功能概要

启用镁离子结合活性;锰离子结合活性;和木糖基α-1,3-木糖基转移酶活性。参与 O-聚糖加工。是内质网膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables magnesium ion binding activity; manganese ion binding activity; and xylosyl alpha-1,3-xylosyltransferase activity. Involved in O-glycan processing. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

XXYLT1 基因产物(3)

mRNA Protein Name
NM_001308069.2 NP_001294998.1 xyloside xylosyltransferase 1 isoform 2
NM_001410854.1 NP_001397783.1 xyloside xylosyltransferase 1 isoform 3
NM_152531.5 NP_689744.3 xyloside xylosyltransferase 1 isoform 1
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 UDP-xylosyltransferase activity IDA
IDA: 通过直接分析推断
8982869 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
8982869 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
8982869 GOA
enables xylosyl alpha-1,3-xylosyltransferase activity IDA
IDA: 通过直接分析推断
22117070 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
8982869 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
22117070 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

XXYLT1 蛋白结构

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (204 - 356)

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

xyloside xylosyltransferase 1

UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 15

Retinitis Pigmentosa 65

CORD15

Dystrophy, Cone-Rod, Type 15

Cone-Rod Dystrophy 12

CORD12

Dystrophy, Cone-Rod, Type 12

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Limb-Girdle Muscular Dystrophy 21

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

Branchiootic Syndrome

Bo Syndrome

Branchiootic Dysplasia

Bor

Bo Syndrome 1

Bos1

Branchiootic Syndrome 1

Craniofacial Microsomia

Goldenhar Syndrome

Hemifacial Microsomia

Oculoauriculovertebral Spectrum

Oavs

Oculo-Auriculo-Vertebral Spectrum

CFM

Oav Dysplasia

Facioauriculovertebral Sequence

Fav Sequence

First And Second Branchial Arch Syndrome

Otomandibular Dysostosis

Hfm

Oculoauriculovertebral Dysplasia

Facio-Auriculo-Vertebral Spectrum

Facioauriculovertebral Dysplasia

Oculo-Auriculo-Vertebral Dysplasia

First Arch Syndrome

Oav Dysplasia

Goldenhar Disease

Expanded Spectrum Hemifacial Microsomia

Expanded Spectrum Of Hemifacial Microsomia

Oculoauriculovertebral Syndrome

Oavd

Asymmetric Hypoplasia Of Facial Structures

Auriculobranchiogenic Dysplasia

Fav

First And Second Pharyngeal Arch Syndromes

Goldenhar-Gorlin Syndrome

Lateral Facial Dysplasia

Oav Complex

Oral-Mandibular-Auricular Syndrome

Unilateral Intrauterine Facial Necrosis

Unilateral Mandibulofacial Dysostosis

Oav Spectrum

Oculoauricular Vertebral Dysplasia

Microsomia, Hemifacial

Goldenhar Syndrome With Ipsilateral Radial Defect

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta XXYLT1 VGNC VGNC:79630
Mus musculus XXYLT1 MGD MGI:2146443
Felis catus XXYLT1 VGNC VGNC:102869
Bos taurus XXYLT1 VGNC VGNC:53613
Rattus norvegicus XXYLT1 RGD RGD:1308154