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

    Gene ID: 4249, updated on 3-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2q21.2-q21.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (134119935..134454621)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 16542 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:134742538-134743737 Neighboring gene uncharacterized LOC105373628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16543 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:134821977-134822608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16544 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:134864951-134865484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:134866541-134867202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:134867203-134867862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11975 Neighboring gene NANOG hESC enhancer GRCh37_chr2:134891163-134891785 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:134891786-134892407 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_52669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:134915432-134916037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:134916038-134916642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16546 Neighboring gene microRNA 3679 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_52692 Neighboring gene NANOG hESC enhancer GRCh37_chr2:134960700-134961201 Neighboring gene Sharpr-MPRA regulatory region 5769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135002234-135002734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135002735-135003235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16553 Neighboring gene RNA, 5S ribosomal pseudogene 104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16561 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:135129934-135130438 Neighboring gene epididymal protein 3C, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16562 Neighboring gene Sharpr-MPRA regulatory region 6492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135201292-135201792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135217811-135218312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135218313-135218812 Neighboring gene Sharpr-MPRA regulatory region 15464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135240067-135240597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135240598-135241127 Neighboring gene uncharacterized LOC124906076 Neighboring gene transmembrane protein 163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:135293574-135294074 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:135318760-135318939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16563 Neighboring gene MPRA-validated peak3868 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11977 Neighboring gene uncharacterized LOC105373629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11978 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:135478596-135479795

    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

    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
     
    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
    XP_054198083.1
    XP_054198084.1
    XP_054198085.1
    XP_054198086.1
    XP_054198087.1
    XP_054198088.1
    XP_054198089.1
    XP_054198090.1
    XP_054198091.1
    XP_054198092.1
    XP_054198093.1
    XP_054198094.1
    XP_054198095.1
    XP_054198096.1
    XP_054198097.1
    XP_054198098.1
    XP_054198099.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q09328
      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: GCF_000001405.40-RS_2023_10

    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, Q09328
    3. XM_047444400.1XP_047300356.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    4. XM_047444395.1XP_047300351.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    5. XM_047444401.1XP_047300357.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    6. XM_047444399.1XP_047300355.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    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, Q09328
    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

      UniProtKB/TrEMBL
      Q53SM9
      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, Q09328
    13. XM_047444404.1XP_047300360.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    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, Q09328
    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, Q09328
    19. XM_047444398.1XP_047300354.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    20. XM_047444405.1XP_047300361.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    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)

    mRNA and Protein(s)

    1. XM_054342117.1XP_054198092.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    2. XM_054342113.1XP_054198088.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    3. XM_054342116.1XP_054198091.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    4. XM_054342110.1XP_054198085.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    5. XM_054342118.1XP_054198093.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    6. XM_054342115.1XP_054198090.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    7. XM_054342108.1XP_054198083.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    8. XM_054342111.1XP_054198086.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    9. XM_054342112.1XP_054198087.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    10. XM_054342123.1XP_054198098.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X2

    11. XM_054342124.1XP_054198099.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X2

    12. XM_054342121.1XP_054198096.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    13. XM_054342120.1XP_054198095.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    14. XM_054342119.1XP_054198094.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    15. XM_054342109.1XP_054198084.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    16. XM_054342114.1XP_054198089.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328
    17. XM_054342122.1XP_054198097.1  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A isoform X1

      UniProtKB/Swiss-Prot
      D3DP70, Q09328