U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from dbVar

    • Showing Current items.

    MGAT4C MGAT4 family member C [ Homo sapiens (human) ]

    Gene ID: 25834, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MGAT4Cprovided by HGNC
    Official Full Name
    MGAT4 family member Cprovided by HGNC
    Primary source
    HGNC:HGNC:30871
    See related
    Ensembl:ENSG00000182050 MIM:607385; AllianceGenome:HGNC:30871
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GNTIVH; HGNT-IV-H
    Summary
    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, Dec 2024]
    Expression
    Biased expression in thyroid (RPKM 3.6), brain (RPKM 1.8) and 3 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MGAT4C in Genome Data Viewer
    Location:
    12q21.31-q21.32
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (85955667..86839000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (85936518..86820003, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (86349446..87232777, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:86236994-86237738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:86237739-86238483 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:86257241-86257374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4690 Neighboring gene Ras association domain family member 9 Neighboring gene neurotensin Neighboring gene uncharacterized LOC105369877 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:86658073-86658756 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:86692822-86692976 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:86878577-86879202 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:87157635-87158136 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:87158137-87158636 Neighboring gene microRNA 3059 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:87332316-87332892 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:87332893-87333469 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:87337946-87338648 Neighboring gene uncharacterized LOC105369878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6697 Neighboring gene ribosomal protein L23a pseudogene 68 Neighboring gene uncharacterized LOC105369879

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Association of MGAT4C with major neurocognitive disorder in the Mexican population. Bliskunova T, et al. Gene, 2021 Apr 30. PMID 33581268
    2. Cicatricial pemphigoid with upper respiratory tract involvement. Thomas BA. Br J Dermatol, 1968 Jun. PMID 5701727
    3. Cloning and characterization of the human UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homologue (hGnT-IV-H) gene. Furukawa T, et al. J Hum Genet, 1999. PMID 10570912
    4. Influence of N-linked glycans in V4-V5 region of human immunodeficiency virus type 1 glycoprotein gp160 on induction of a virus-neutralizing humoral response. Bolmstedt A, et al. J Acquir Immune Defic Syndr Hum Retrovirol, 1996 Jul. PMID 8673525
    5. Effect of various glycosidase treatments on the resistance of the HIV-1 envelope to degradation. Papandreou MJ, et al. FEBS Lett, 1997 Apr 7. PMID 9109416

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of MGAT4C with major neurocognitive disorder in the Mexican population.
      Title: Association of MGAT4C with major neurocognitive disorder in the Mexican population.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral protein processing TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C
    Names
    N-acetylglucosaminyltransferase IV homolog
    N-acetylglucosaminyltransferase IVc
    N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc
    UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc
    UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV
    UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog
    glcNAc-T IVc
    gnT-IVc
    mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)
    NP_001338211.1
    NP_001338212.1
    NP_001338213.1
    NP_001338214.1
    NP_001338215.1
    NP_001338216.1
    NP_001338217.1
    NP_001338218.1
    NP_001338220.1
    NP_037376.2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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.

    mRNA and Protein(s)

    1. NM_001351282.2 → NP_001338211.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC016993, AC079865, AC139663, AC139697, KF511187
      UniProtKB/TrEMBL
      B3KXP8
      Conserved Domains (2) summary
      pfam04666
      Location:102 → 368
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:67 → 79
      PGAP4-like; putative TM1 helix [structural motif]

    2. NM_001351283.2 → NP_001338212.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
      Source sequence(s)
      AC016993, AC079865, AC139663, AC139697, KF511187
      UniProtKB/TrEMBL
      B3KXP8
      Conserved Domains (2) summary
      pfam04666
      Location:93 → 359
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:58 → 70
      PGAP4-like; putative TM1 helix [structural motif]

    3. NM_001351284.2 → NP_001338213.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AC016993, AC139697, DA149452, DA710239, DC371656, KF511187
      UniProtKB/TrEMBL
      B3KXP8
      Conserved Domains (2) summary
      pfam04666
      Location:93 → 359
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:58 → 70
      PGAP4-like; putative TM1 helix [structural motif]

    4. NM_001351285.2 → NP_001338214.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 4 and 6-10, encodes isoform c.
      Source sequence(s)
      AC010196, AC016993, AC079596, AC079865, AC087887, AC139663, AC139697, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    5. NM_001351286.2 → NP_001338215.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 4, 5, and 7-10, encodes isoform c.
      Source sequence(s)
      AC010196, AC016993, AC079596, AC079865, AC087887, AC139663, AC139697, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Related
      ENSP00000447253.1, ENST00000548651.6
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    6. NM_001351287.2 → NP_001338216.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 4-6 and 8-10, encodes isoform c.
      Source sequence(s)
      AC016993, AC079865, AC139663, AC139697, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    7. NM_001351288.2 → NP_001338217.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 4-7, 9, and 10, encodes isoform c.
      Source sequence(s)
      AC016993, AC079865, AC139663, AC139697, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Related
      ENSP00000481096.1, ENST00000611864.5
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    8. NM_001351289.2 → NP_001338218.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 4-8 and 10, encodes isoform c.
      Source sequence(s)
      AC016993, AC139697, BC026068, DA149452, DA710239, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Related
      ENSP00000449172.1, ENST00000547225.5
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    9. NM_001351291.2 → NP_001338220.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 4-9, encodes isoform c.
      Source sequence(s)
      AC016993, AC139697, AK127727, DA149452, DA710239, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Related
      ENSP00000477650.1, ENST00000620241.5
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    10. NM_013244.5 → NP_037376.2  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C isoform c

      See identical proteins and their annotated locations for NP_037376.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 5-10, encodes isoform c.
      Source sequence(s)
      AC016993, AC139697, BC035851, BX954189, DA489647, KF511187
      Consensus CDS
      CCDS9030.1
      UniProtKB/Swiss-Prot
      B4DRH2, Q4G199, Q9UBM8, Q9UIU5
      UniProtKB/TrEMBL
      B3KXP8
      Conserved Domains (2) summary
      pfam04666
      Location:64 → 330
      Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region
      cd21105
      Location:29 → 41
      PGAP4-like; putative TM1 helix [structural motif]

    RNA

    1. NR_147093.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC016993, AC079865, AC139663, AC139697, KF511187

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      85955667..86839000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      85936518..86820003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBM8.2 GenPept UniProtKB/Swiss-Prot:Q9UBM8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous