1. Gene
  2. MGAT4C - MGAT4 family member C Gene

MGAT4C - MGAT4 family member C Gene

中文名称:MGAT4 家族成员 C

种属: Homo sapiens

同用名: GNTIVH; HGNT-IV-H

基因 ID: 25834 | 基因类型: protein coding

关于 MGAT4C

Cytogenetic location: 12q21.31-q21.32 Genomic coordinates (GRCh38): 12:85,955,667-86,839,000 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 270 orthologues and 3 paralogues. Biased expression in thyroid (RPKM 3.6), brain (RPKM 1.8) and 3 other tissues.

功能概要

预测可启用乙酰葡糖胺基转移酶活性。预计参与蛋白质 N-连接糖基化。预测位于高尔基体膜。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

MGAT4C 基因产物(10)

mRNA Protein Name
NM_001351282.2 NP_001338211.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform a precursor
NM_001351283.2 NP_001338212.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform b
NM_001351284.2 NP_001338213.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform b
NM_001351285.2 NP_001338214.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c
NM_001351286.2 NP_001338215.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c
NM_001351287.2 NP_001338216.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c
NM_001351288.2 NP_001338217.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c
NM_001351289.2 NP_001338218.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c
NM_001351291.2 NP_001338220.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c
NM_013244.5 NP_037376.2 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

MGAT4C 蛋白结构

Glyco_transf_54

Glyco_transf_54: N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region (64 - 330)

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  • 478 a.a.
蛋白主名 其他名称

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C

N-acetylglucosaminyltransferase IV homolog

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

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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
Rattus norvegicus MGAT4C RGD RGD:1307871
Macaca mulatta MGAT4C VGNC VGNC:74628
Bos taurus MGAT4C VGNC VGNC:31448
Canis familiaris MGAT4C VGNC VGNC:54326
Felis catus MGAT4C VGNC VGNC:63487
Mus musculus MGAT4C MGD MGI:1914819