1. Gene
  2. GALNT5 - polypeptide N-acetylgalactosaminyltransferase 5 Gene

GALNT5 - polypeptide N-acetylgalactosaminyltransferase 5 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶 5

种属: Homo sapiens

同用名: GALNACT5; GALNAC-T5

基因 ID: 11227 | 基因类型: protein coding

关于 GALNT5

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:157,257,705-157,318,491 (from NCBI)

This gene has 3 transcripts (splice variants), 231 orthologues and 19 paralogues. Biased expression in colon (RPKM 10.1), lung (RPKM 7.0) and 7 other tissues.

功能概要

由该基因编码的蛋白质是在高尔基体中发现的膜结合多肽 N-乙酰半乳糖氨基转移酶。编码的蛋白质催化高尔基体蛋白质粘蛋白型 O-糖基化的第一步,将 N-乙酰-D-半乳糖胺残基转移到蛋白质受体上的丝氨酸或苏氨酸残基。[RefSeq 提供,2016 年 8 月]

The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]

GALNT5 基因产物(2)

mRNA Protein Name
NM_001329868.2 NP_001316797.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform 2
NM_014568.3 NP_055383.1 polypeptide N-acetylgalactosaminyltransferase 5 isoform 1

GALNT5 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (499 - 681)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (811 - 932)

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  • 940 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 5

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5

关联疾病

疾病名称 别名
Atrial Septal Defect 5

ASD5

Atrial Heart Septal Defect 5

Septal Defect, Atrial, Type 5

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 GALNT5 MGD MGI:2179403
Bos taurus GALNT5 VGNC VGNC:29233
Rattus norvegicus GALNT5 RGD RGD:620361
Canis familiaris GALNT5 VGNC VGNC:53096
Felis catus GALNT5 VGNC VGNC:62452
Macaca mulatta GALNT5 VGNC VGNC:72874