1. Gene
  2. GBGT1 - globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) Gene

GBGT1 - globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) Gene

中文名称:球糖苷 alpha-1,3-N-乙酰半乳糖氨基转移酶 1 (FORS 血型)

种属: Homo sapiens

同用名: FS; A3GALNT; UNQ2513

基因 ID: 26301 | 基因类型: protein coding

关于 GBGT1

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,152,948-133,163,914 (from NCBI)

This gene has 12 transcripts (splice variants), 323 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 6.0), appendix (RPKM 5.4) and 24 other tissues.

功能概要

该基因编码的糖基转移酶在 Forssman 糖脂 (FG) 的合成中发挥作用,FG 是球糖脂家族的一员。 FG 等糖脂形成病原体与细胞结合的附着位点;这种蛋白质的表达可能决定宿主对微生物的嗜性。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 12 月]

This gene encodes a Glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to Microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GBGT1 基因产物(5)

mRNA Protein Name
NM_001282629.2 NP_001269558.1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 2
NM_001282632.2 NP_001269561.1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 3
NM_001288572.2 NP_001275501.1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 4
NM_001288573.2 NP_001275502.1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 5
NM_021996.6 NP_068836.2 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1

GBGT1 蛋白结构

Glyco_transf_6

Glyco_transf_6: Glycosyltransferase family 6 (17 - 347)

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

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Forssman blood group

关联疾病

疾病名称 别名
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11

Mddga11

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Inflammatory Bowel Disease 19

Inflammatory Bowel Disease 19

IBD19

Bowel Disease, Inflammatory, Type 19

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

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 GBGT1 MGD MGI:2449143
Bos taurus GBGT1 VGNC VGNC:59217
Rattus norvegicus GBGT1 RGD RGD:1591938
Canis familiaris GBGT1 VGNC VGNC:55567