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MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase [ Homo sapiens (human) ]

Gene ID: 4249, updated on 3-Oct-2018

Summary

Official Symbol
MGAT5provided by HGNC
Official Full Name
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:7049
See related
Ensembl:ENSG00000152127 MIM:601774; Vega:OTTHUMG00000131681
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GNT-V; GNT-VA; MGAT5A
Summary
The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
Expression
Ubiquitous expression in heart (RPKM 14.6), lymph node (RPKM 12.4) and 24 other tissues See more
Orthologs

Genomic context

See MGAT5 in Genome Data Viewer
Location:
2q21.2-q21.3
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (134119922..134454621)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (134877502..135212192)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373627 Neighboring gene uncharacterized LOC105373628 Neighboring gene microRNA 3679 Neighboring gene RNA, 5S ribosomal pseudogene 104 Neighboring gene epididymal protein 3C, pseudogene Neighboring gene transmembrane protein 163 Neighboring gene uncharacterized LOC105373629 Neighboring gene voltage dependent anion channel 2 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
MGAT5 alters the severity of multiple sclerosis.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31899, FLJ43217, DKFZp686B24166

General protein information

Preferred Names
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A
Names
N-acetylglucosaminyl-transferase V
alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase
glcNAc-T V
mannoside acetylglucosaminyltransferase 5
mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
NP_002401.1
XP_005263725.1
XP_005263726.1
XP_005263727.1
XP_006712597.1
XP_011509501.1
XP_011509502.1
XP_011509503.1
XP_011509504.1
XP_011509506.1
XP_016859636.1
XP_016859637.1
XP_016859638.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030324.1 RefSeqGene

    Range
    5001..205363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002410.4NP_002401.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A

    See identical proteins and their annotated locations for NP_002401.1

    Status: REVIEWED

    Source sequence(s)
    AC013718, AC016906, AK056461, BU191961, BX647087, D17716, DB223638, DB237089
    Consensus CDS
    CCDS2171.1
    UniProtKB/Swiss-Prot
    Q09328
    Related
    ENSP00000281923.2, ENST00000281923.3
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    134119922..134454621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004149.1XP_016859638.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X2

    Conserved Domains (2) summary
    pfam15024
    Location:172460
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:3138
    DUF4525; Domain of unknown function (DUF4525)
  2. XM_017004147.2XP_016859636.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  3. XM_005263668.5XP_005263725.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_005263725.1

    UniProtKB/Swiss-Prot
    Q09328
    Related
    ENSP00000386377.1, OTTHUMP00000162459, ENST00000409645.5
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  4. XM_005263669.5XP_005263726.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_005263726.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  5. XM_017004148.1XP_016859637.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  6. XM_005263670.3XP_005263727.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_005263727.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  7. XM_011511201.2XP_011509503.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_011509503.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  8. XM_011511199.2XP_011509501.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_011509501.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  9. XM_006712534.3XP_006712597.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_006712597.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  10. XM_011511204.2XP_011509506.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X2

    Conserved Domains (2) summary
    pfam15024
    Location:172460
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:3138
    DUF4525; Domain of unknown function (DUF4525)
  11. XM_011511200.1XP_011509502.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_011509502.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
  12. XM_011511202.2XP_011509504.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    See identical proteins and their annotated locations for XP_011509504.1

    UniProtKB/Swiss-Prot
    Q09328
    Conserved Domains (2) summary
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
    pfam15027
    Location:7136
    DUF4525; Domain of unknown function (DUF4525)
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