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    GLT1D1 glycosyltransferase 1 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 144423, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GLT1D1provided by HGNC
    Official Full Name
    glycosyltransferase 1 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26483
    See related
    Ensembl:ENSG00000151948 AllianceGenome:HGNC:26483
    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
    Summary
    Predicted to enable glycosyltransferase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 6.9), bone marrow (RPKM 6.4) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q24.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (128853478..128984968)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (128885134..129016644)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (129338023..129469513)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903089 Neighboring gene uncharacterized LOC100128276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:129338353-129339004 Neighboring gene uncharacterized LOC124903084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7342 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:129441173-129442372 Neighboring gene AK3 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129456267-129456768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129456769-129457268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129461102-129461606 Neighboring gene uncharacterized LOC105370073 Neighboring gene NLR family pyrin domain containing 9 pseudogene 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. Overexpression of GLT1D1 induces immunosuppression through glycosylation of PD-L1 and predicts poor prognosis in B-cell lymphoma. Liu X, et al. Mol Oncol, 2020 May. PMID 32157792, Free PMC Article
    2. Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort. Joo YB, et al. Sci Rep, 2018 Jul 2. PMID 29967481, Free PMC Article
    3. Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. Foster MC, et al. BMC Med Genet, 2011 Nov 1. PMID 22044751, Free PMC Article
    4. Diversity of oligosaccharide structures on the envelope glycoprotein gp 120 of human immunodeficiency virus 1 from the lymphoblastoid cell line H9. Presence of complex-type oligosaccharides with bisecting N-acetylglucosamine residues. Mizuochi T, et al. J Biol Chem, 1990 May 25. PMID 2341393
    5. Effect of N-(3-phenyl-2-propenyl)-1-deoxynojirimycin on the lectin binding to HIV-1 glycoproteins. Shimizu H, et al. Jpn J Med Sci Biol, 1990 Jun. PMID 2283726

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of GLT1D1 induces immunosuppression through glycosylation of PD-L1 and predicts poor prognosis in B-cell lymphoma.
      Title: Overexpression of GLT1D1 induces immunosuppression through glycosylation of PD-L1 and predicts poor prognosis in B-cell lymphoma.
    2. GLT1D1 single nucleotide polymorphism rs7300146 is associated with childhood-onset systemic lupus erythematosus.
      Title: Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort.
    3. 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.
    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
    Heritability and genome-wide association analysis of renal sinus fat accumulation 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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31978

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glycosyltransferase 1 domain-containing protein 1
    NP_001353815.1
    NP_001353816.1
    NP_001353817.1
    NP_001353818.1
    NP_653270.1
    XP_011536259.1
    XP_047284327.1
    XP_047284328.1
    XP_047284329.1
    XP_054227150.1
    XP_054227151.1
    XP_054227152.1
    XP_054227153.1

    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_001366886.1 → NP_001353815.1  glycosyltransferase 1 domain-containing protein 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC069262
      Consensus CDS
      CCDS91773.1
      UniProtKB/Swiss-Prot
      Q86XG8, Q96MS3
      UniProtKB/TrEMBL
      F5H088
      Related
      ENSP00000394692.2, ENST00000442111.7
      Conserved Domains (1) summary
      cl10013
      Location:67 → 328
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    2. NM_001366887.1 → NP_001353816.1  glycosyltransferase 1 domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC069262
      UniProtKB/TrEMBL
      B4DI76
      Conserved Domains (1) summary
      cl10013
      Location:60 → 286
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    3. NM_001366888.1 → NP_001353817.1  glycosyltransferase 1 domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC069262
      UniProtKB/TrEMBL
      B4DI76

    4. NM_001366889.1 → NP_001353818.1  glycosyltransferase 1 domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC069262
      UniProtKB/TrEMBL
      F5H088
      Related
      ENSP00000438158.1, ENST00000537468.1

    5. NM_144669.3 → NP_653270.1  glycosyltransferase 1 domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_653270.1

      Status: VALIDATED

      Source sequence(s)
      AC069262, AK056540, BC043528
      Consensus CDS
      CCDS9265.1
      UniProtKB/Swiss-Prot
      Q96MS3
      Related
      ENSP00000281703.6, ENST00000281703.11
      Conserved Domains (2) summary
      COG0438
      Location:132 → 260
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cl10013
      Location:144 → 248
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    RNA

    1. NR_133646.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon and contains several alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC069262, AK056540, BC043528
      Related
      ENST00000441390.6

    2. NR_159493.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC069262

    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
      128853478..128984968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428372.1 → XP_047284328.1  glycosyltransferase 1 domain-containing protein 1 isoform X3

    2. XM_011537957.3 → XP_011536259.1  glycosyltransferase 1 domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DHZ5
      Conserved Domains (2) summary
      COG0438
      Location:126 → 314
      RfaB; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cl10013
      Location:141 → 302
      Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...

    3. XM_047428371.1 → XP_047284327.1  glycosyltransferase 1 domain-containing protein 1 isoform X1

    4. XM_047428373.1 → XP_047284329.1  glycosyltransferase 1 domain-containing protein 1 isoform X4

    RNA

    1. XR_001748588.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      128885134..129016644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371177.1 → XP_054227152.1  glycosyltransferase 1 domain-containing protein 1 isoform X3

    2. XM_054371176.1 → XP_054227151.1  glycosyltransferase 1 domain-containing protein 1 isoform X2

    3. XM_054371175.1 → XP_054227150.1  glycosyltransferase 1 domain-containing protein 1 isoform X1

    4. XM_054371178.1 → XP_054227153.1  glycosyltransferase 1 domain-containing protein 1 isoform X4

    RNA

    1. XR_008488538.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MS3.2 GenPept UniProtKB/Swiss-Prot:Q96MS3

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