2. Gene
  3. A4GALT - alpha 1,4-galactosyltransferase (P blood group) Gene

A4GALT - alpha 1,4-galactosyltransferase (P blood group) Gene

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

中文名称：α 1,4-半乳糖基转移酶 (P 血型)

种属: Homo sapiens

同用名: P1; PK; Gb3S; P(k); P1PK; A14GALT; A4GALT1

基因 ID: 53947 | 基因类型: protein coding

关于 A4GALT

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,692,121-42,721,301 (from NCBI)

This gene has 7 transcripts (splice variants), 118 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in kidney (RPKM 6.5), fat (RPKM 5.5) and 22 other tissues.

功能概要

该基因编码的蛋白质催化半乳糖转移到乳糖神经酰胺，形成球三糖神经酰胺，已被鉴定为 P 血型系统的 P (k) 抗原。这种蛋白质是高尔基体中发现的一种 II 型膜蛋白，也是合成细菌志贺毒素受体所必需的。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the Bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

A4GALT 基因产物(2)

mRNA Protein Name
NM_001318038.3 NP_001304967.1 lactosylceramide 4-alpha-galactosyltransferase
NM_017436.7 NP_059132.1 lactosylceramide 4-alpha-galactosyltransferase
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 galactosyltransferase activity IDA
IDA: 通过直接分析推断
10747952 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within plasma membrane organization IDA
IDA: 通过直接分析推断
10747952 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
10748143 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

A4GALT 蛋白结构

Gly_transf_sug

Gly_transf_sug: Glycosyltransferase sugar-binding region containing DXD motif (94 - 213)

Gb3_synth

Gb3_synth: Alpha 1,4-glycosyltransferase conserved region (221 - 352)

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

lactosylceramide 4-alpha-galactosyltransferase

CD77 synthase

关联疾病

疾病名称 别名
Blood Group, P1pk System

Blood Group, P1pk System, P Phenotype

Blood Group, P1pk System, P Phenotype

Nor Polyagglutination Syndrome

Blood Group, P1pk System, P(2) Phenotype

P1pk Blood Group System, P(2) Phenotype

Blood Group System, P1pk
Caffey Disease

Infantile Cortical Hyperostosis

CAFYD

Cortical Congenital Hyperostosis

Caffey-Silverman Syndrome

De Toni-Caffey Disease

Hyperostosis Cortical Infantile

Hyperostosis, Cortical, Congenital
Fabry Disease

Alpha-Galactosidase A Deficiency

Anderson-Fabry Disease

Angiokeratoma Corporis Diffusum

Ceramide Trihexosidase Deficiency

Fabry Disease, Cardiac Variant

Fabry'S Disease

Hereditary Dystopic Lipidosis

Gla Deficiency

FD

Alpha Galactosidase Deficiency

Deficiency Of Melibiase

Angiokeratoma, Diffuse

Angiokeratoma Diffuse

Diffuse Angiokeratoma
Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins

Transient Infantile Liver Failure

LFIT

Acute Infantile Liver Failure

Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins

Liver Failure, Transient Infantile

Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect

Liver Failure, Acute Infantile

Failure, Liver, Transient, Infantile
Blood Group Incompatibility
Angiokeratoma

Angiokeratoma Of Skin

Cutaneous Angiokeratoma

Skin Angiokeratoma
Skin Hemangioma

Angioma Of The Skin

Angiomatous Naevus Of Skin

Hemangioma Of Skin
Sphingolipidosis

Sphingolipidoses
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-E70047 alpha-1,4-Galactosyltransferase (LgtC) / 否
HY-149125 Globotriaosylceramide (porcine RBC) Inhibitor / 否
HY-RS00013 A4GALT Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus A4GALT MGD MGI:3512453
Canis familiaris A4GALT VGNC VGNC:108199
Rattus norvegicus A4GALT RGD RGD:621583
Macaca mulatta A4GALT VGNC VGNC:84538
Felis catus A4GALT VGNC VGNC:83484
Bos taurus A4GALT VGNC VGNC:49133
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