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  2. GALNT14 - polypeptide N-acetylgalactosaminyltransferase 14 Gene

GALNT14 - polypeptide N-acetylgalactosaminyltransferase 14 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶 14

种属: Homo sapiens

同用名: GALNT15; GalNac-T10; GalNac-T14

基因 ID: 79623 | 基因类型: protein coding

关于 GALNT14

Cytogenetic location: 2p23.1 Genomic coordinates (GRCh38): 2:30,886,782-31,138,440 (from NCBI)

This gene has 15 transcripts (splice variants), 215 orthologues and 19 paralogues. Biased expression in kidney (RPKM 5.0), esophagus (RPKM 0.7) and 7 other tissues.

功能概要

该基因编码高尔基体蛋白,该蛋白是多肽 N-乙酰半乳糖氨基转移酶 (ppGalNAc-Ts) 蛋白家族的成员。这些酶催化 N-乙酰-D-半乳糖胺 (GalNAc) 转移到目标肽中丝氨酸和苏氨酸上的羟基。编码的蛋白质已被证明可以将 GalNAc 转移到粘蛋白等大蛋白质上。该基因的改变可能在癌症进展和对化疗的反应中发挥作用。[RefSeq 提供,2016 年 6 月]

This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These Enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in Cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]

GALNT14 基因产物(6)

mRNA Protein Name
NM_001253826.2 NP_001240755.1 polypeptide N-acetylgalactosaminyltransferase 14 isoform 2
NM_001253827.2 NP_001240756.1 polypeptide N-acetylgalactosaminyltransferase 14 isoform 3
NM_001329095.2 NP_001316024.1 polypeptide N-acetylgalactosaminyltransferase 14 isoform 4
NM_001329096.2 NP_001316025.1 polypeptide N-acetylgalactosaminyltransferase 14 isoform 3
NM_001329097.2 NP_001316026.1 polypeptide N-acetylgalactosaminyltransferase 14 isoform 6
NM_024572.4 NP_078848.2 polypeptide N-acetylgalactosaminyltransferase 14 isoform 1

GALNT14 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (114 - 268)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (278 - 336)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (424 - 547)

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  • 552 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 14

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14

关联疾病

疾病名称 别名
Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

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 GALNT14 MGD MGI:1918935
Canis familiaris GALNT14 VGNC VGNC:41089
Bos taurus GALNT14 VGNC VGNC:29227
Rattus norvegicus GALNT14 RGD RGD:1310068
Felis catus GALNT14 VGNC VGNC:62446
Macaca mulatta GALNT14 VGNC VGNC:72764