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MGAT4D MGAT4 family member D [ Homo sapiens (human) ]

Gene ID: 152586, updated on 22-Sep-2022

Summary

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Official Symbol
MGAT4Dprovided by HGNC
Official Full Name
MGAT4 family member Dprovided by HGNC
Primary source
HGNC:HGNC:43619
See related
Ensembl:ENSG00000205301 MIM:610310; AllianceGenome:HGNC:43619
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
GnT1IP
Summary
Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in membrane. Predicted to be active in Golgi stack; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 7.0) See more
Orthologs
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Genomic context

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See MGAT4D in Genome Data Viewer
Location:
4q31.1
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (140442262..140498293, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (143762026..143818003, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (141363416..141419447, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene short coiled-coil protein Neighboring gene SCOC antisense RNA 1 Neighboring gene ribosomal protein L14 pseudogene 3 Neighboring gene calmegin Neighboring gene ELMO domain containing 2 Neighboring gene uncoupling protein 1

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. GnT1IP-L specifically inhibits MGAT1 in the Golgi via its luminal domain. Huang HH, et al. Elife, 2015 Sep 15. PMID 26371870, Free PMC Article
  2. ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Hodgson U, et al. Am J Hum Genet, 2006 Jul. PMID 16773575, Free PMC Article
  3. A testis-specific regulator of complex and hybrid N-glycan synthesis. Huang HH, et al. J Cell Biol, 2010 Sep 6. PMID 20805325, Free PMC Article
  4. Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex N-glycan synthesis. Akintayo A, et al. J Biol Chem, 2020 Oct 9. PMID 32763972, Free PMC Article
  5. Genome-wide association with select biomarker traits in the Framingham Heart Study. Benjamin EJ, et al. BMC Med Genet, 2007 Sep 19. PMID 17903293, Free PMC Article

See all (9) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex N-glycan synthesis.
    Title: Point mutations that inactivate MGAT4D-L, an inhibitor of MGAT1 and complex <i>N</i>-glycan synthesis.
  2. The authors show here that the luminal domain of GnT1IP-L contains its MGAT1 inhibitory activity.
    Title: GnT1IP-L specifically inhibits MGAT1 in the Golgi via its luminal domain.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with select biomarker traits in the Framingham Heart Study.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC43429

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in Golgi stack IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum-Golgi intermediate compartment IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D
Names
GlcNAcT-I Inhibitory Protein
N-acetylglucosaminyltransferase MGAT1 inhibitory protein
glycosyltransferase 54 domain containing 1
glycosyltransferase 54 domain-containing protein
mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase family, member D
NP_001264282.1
XP_011529952.1
XP_011529953.1
XP_011529954.1
XP_011529955.1
XP_011529956.1
XP_011529958.1
XP_011529959.1
XP_011529960.1
XP_011529961.1
XP_011529963.1
XP_011529964.1
XP_011529966.1
XP_011529967.1
XP_047305604.1

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.

mRNA and Protein(s)

  1. NM_001277353.2 → NP_001264282.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D

    See identical proteins and their annotated locations for NP_001264282.1

    Status: VALIDATED

    Source sequence(s)
    AC093671, BI826002, BI828214, DB444046, DB462368
    Consensus CDS
    CCDS64066.1
    UniProtKB/Swiss-Prot
    A6NG13
    Related
    ENSP00000421185.1, ENST00000511113.6
    Conserved Domains (1) summary
    pfam04666
    Location:96 → 372
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    140442262..140498293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531665.4 → XP_011529967.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

    See identical proteins and their annotated locations for XP_011529967.1

    Conserved Domains (1) summary
    pfam04666
    Location:1 → 186
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  2. XM_011531658.4 → XP_011529960.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X6

    Conserved Domains (1) summary
    pfam04666
    Location:30 → 273
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  3. XM_011531656.4 → XP_011529958.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X4

    Conserved Domains (1) summary
    pfam04666
    Location:85 → 326
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  4. XM_011531654.4 → XP_011529956.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X3

    Conserved Domains (1) summary
    pfam04666
    Location:96 → 353
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  5. XM_011531650.4 → XP_011529952.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X1

    Conserved Domains (1) summary
    pfam04666
    Location:96 → 362
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  6. XM_011531653.4 → XP_011529955.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

    See identical proteins and their annotated locations for XP_011529955.1

    Conserved Domains (1) summary
    pfam04666
    Location:80 → 356
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  7. XM_011531652.3 → XP_011529954.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

    See identical proteins and their annotated locations for XP_011529954.1

    Conserved Domains (1) summary
    pfam04666
    Location:80 → 356
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  8. XM_011531651.3 → XP_011529953.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2

    See identical proteins and their annotated locations for XP_011529953.1

    Conserved Domains (1) summary
    pfam04666
    Location:80 → 356
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  9. XM_011531664.3 → XP_011529966.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

    See identical proteins and their annotated locations for XP_011529966.1

    Conserved Domains (1) summary
    pfam04666
    Location:1 → 186
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  10. XM_011531657.4 → XP_011529959.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X5

    Conserved Domains (1) summary
    pfam04666
    Location:48 → 324
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  11. XM_047449648.1 → XP_047305604.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X10

  12. XM_011531659.3 → XP_011529961.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X7

    Conserved Domains (1) summary
    pfam04666
    Location:96 → 254
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  13. XM_011531661.3 → XP_011529963.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X8

    Conserved Domains (1) summary
    pfam04666
    Location:96 → 218
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

  14. XM_011531662.3 → XP_011529964.1  alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X9

    Conserved Domains (1) summary
    pfam04666
    Location:96 → 191
    Glyco_transf_54; N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region

RNA

  1. XR_938697.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    143762026..143818003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001034840.1: Suppressed sequence

    Description
    NM_001034840.1: This RefSeq was permanently suppressed because it is a partial sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NG13.3 GenPept UniProtKB/Swiss-Prot:A6NG13

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