MGAT5B - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Gene

Homo sapiens

Also known as GnT-IX; GnT-VB

Gene ID: 146664 | Gene type: protein coding

About MGAT5B

Cytogenetic location: 17q25.2 Genomic coordinates (GRCh38): 17:76,868,404-76,950,393 (from NCBI)

This gene has 9 transcripts (splice variants), 272 orthologues and 2 paralogues. Biased expression in brain (RPKM 5.4) and testis (RPKM 0.7).

Summary

The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]

MGAT5B Products(3)

mRNA	Protein	Name
NM_001199172.2	NP_001186101.1	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 3
NM_144677.3	NP_653278.2	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 1
NM_198955.1	NP_945193.1	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	19846580	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	19846580	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23088713	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein O-linked glycosylation via serine	IDA IDA: Inferred from direct assay	19846580	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MGAT5B Protein Structure

Glyco_transf_18

0
200
400
600
792 a.a.

Protein Preferred Names

Protein Names

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B

N-acetylglucosaminyl-transferase Vb

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08408	MGAT5B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MGAT5B	VGNC	VGNC:74566
Bos taurus	MGAT5B	VGNC	VGNC:55847
Mus musculus	MGAT5B	MGD	MGI:3606200
Rattus norvegicus	MGAT5B	RGD	RGD:1305188
Canis familiaris	MGAT5B	VGNC	VGNC:55787
Felis catus	MGAT5B	VGNC	VGNC:63488

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