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

Gene ID: 4249, updated on 26-Oct-2022

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; AllianceGenome:HGNC:7049
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; glcNAc-T V
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
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Genomic context

See MGAT5 in Genome Data Viewer
Location:
2q21.2-q21.3
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (134119935..134454621)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (134559395..134894193)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (134877506..135212192)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373627 Neighboring gene uncharacterized LOC105373628 Neighboring gene microRNA 3679 Neighboring gene Sharpr-MPRA regulatory region 5769 Neighboring gene RNA, 5S ribosomal pseudogene 104 Neighboring gene epididymal protein 3C, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6492 Neighboring gene Sharpr-MPRA regulatory region 15464 Neighboring gene uncharacterized LOC124906076 Neighboring gene transmembrane protein 163

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31899, FLJ43217, DKFZp686B24166

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

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 V
mannoside acetylglucosaminyltransferase 5
mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
NP_001358386.1
NP_002401.1
XP_005263726.1
XP_006712597.1
XP_011509501.1
XP_011509503.1
XP_011509504.1
XP_016859636.1
XP_016859637.1
XP_016859638.1
XP_047300350.1
XP_047300351.1
XP_047300352.1
XP_047300353.1
XP_047300354.1
XP_047300355.1
XP_047300356.1
XP_047300357.1
XP_047300358.1
XP_047300359.1
XP_047300360.1
XP_047300361.1
XP_047300362.1

NCBI Reference Sequences (RefSeq)

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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_030324.2 RefSeqGene

    Range
    139139..339688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001371457.1NP_001358386.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A

    Status: REVIEWED

    Source sequence(s)
    AC013276, AC013718, AC016906, AC092623
    Consensus CDS
    CCDS2171.1
    UniProtKB/Swiss-Prot
    D3DP70
    Related
    ENSP00000386377.1, ENST00000409645.5
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  2. NM_002410.5NP_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
    D3DP70, Q09328
    Related
    ENSP00000281923.2, ENST00000281923.4
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    134119935..134454621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712534.4XP_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
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  2. XM_047444397.1XP_047300353.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  3. XM_047444400.1XP_047300356.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  4. XM_047444395.1XP_047300351.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  5. XM_047444401.1XP_047300357.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  6. XM_047444399.1XP_047300355.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  7. XM_017004147.3XP_016859636.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  8. XM_047444396.1XP_047300352.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  9. XM_005263669.6XP_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
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  10. XM_047444406.1XP_047300362.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X2

  11. XM_017004149.2XP_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)
  12. XM_047444402.1XP_047300358.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  13. XM_047444404.1XP_047300360.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  14. XM_017004148.2XP_016859637.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  15. XM_047444403.1XP_047300359.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  16. XM_011511201.3XP_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
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  17. XM_011511199.3XP_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
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18
  18. XM_047444394.1XP_047300350.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  19. XM_047444398.1XP_047300354.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  20. XM_047444405.1XP_047300361.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

    UniProtKB/Swiss-Prot
    D3DP70
  21. XM_011511202.3XP_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
    D3DP70, Q09328
    Conserved Domains (2) summary
    pfam15027
    Location:7138
    DUF4525; Domain of unknown function (DUF4525)
    pfam15024
    Location:172726
    Glyco_transf_18; Glycosyltransferase family 18

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    134559395..134894193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)