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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
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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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