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

Gene ID: 25834, updated on 5-Mar-2024

Summary

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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, Apr 2022]
Expression
Biased expression in thyroid (RPKM 3.6), brain (RPKM 1.8) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
12q21.31-q21.32
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (85955667..86839000, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (85936518..86820003, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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. 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
  3. Cicatricial pemphigoid with upper respiratory tract involvement. Thomas BA. Br J Dermatol, 1968 Jun. PMID 5701727
  4. Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum. Land A, et al. Biochimie, 2001 Aug. PMID 11530211
  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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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.

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_2023_10

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

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