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    GLT6D1 glycosyltransferase 6 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 360203, updated on 17-Jun-2024

    Summary

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    Official Symbol
    GLT6D1provided by HGNC
    Official Full Name
    glycosyltransferase 6 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:23671
    See related
    Ensembl:ENSG00000204007 MIM:613699; AllianceGenome:HGNC:23671
    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
    GT6M7; GLTDC1
    Summary
    The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]
    Expression
    Restricted expression toward testis (RPKM 2.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See GLT6D1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135623648..135641216, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147850032..147867609, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138515494..138531386, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138479168-138479918 Neighboring gene progestagen associated endometrial protein pseudogene 1 Neighboring gene lipocalin 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138553165-138553666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138558544-138559044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138559045-138559545 Neighboring gene lipocalin 9 Neighboring gene uncharacterized LOC105376317 Neighboring gene uncharacterized LOC105376318

    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. Replication of the association of GLT6D1 with aggressive periodontitis in a Sudanese population. Hashim NT, et al. J Clin Periodontol, 2015 Apr. PMID 25682733
    2. A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis. Schaefer AS, et al. Hum Mol Genet, 2010 Feb 1. PMID 19897590
    3. Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian patients with advanced periodontitis. Rodrigues RS, et al. Braz Oral Res, 2022. PMID 35703703
    4. Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function. Casals F, et al. Glycobiology, 2009 Jun. PMID 19218399
    5. Long-term evolution of the CAZY glycosyltransferase 6 (ABO) gene family from fishes to mammals--a birth-and-death evolution model. Turcot-Dubois AL, et al. Glycobiology, 2007 May. PMID 17298992

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian patients with advanced periodontitis.
      Title: Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian patients with advanced periodontitis.
    2. study independently replicated finding that rs1537415, variant in glycosyl transferase gene GLT6D1, is associated with AgP and provided 1st report of genetic associations with AgP Sudanese population.
      Title: Replication of the association of GLT6D1 with aggressive periodontitis in a Sudanese population.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    4. GLT6D1 is a susceptibility locus for periodontitis.
      Title: A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
    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
    A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hexosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative glycosyltransferase 6 domain-containing protein 1
    Names
    galactosyltransferase family 6 domain containing 1
    glycosyltransferase 6 domain-containing protein 1
    NP_892019.2
    XP_011516937.1
    XP_011516939.1
    XP_011516940.1
    XP_024303302.1
    XP_047279305.1
    XP_054218897.1
    XP_054218898.1
    XP_054218899.1
    XP_054218900.1

    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_182974.3 → NP_892019.2  putative glycosyltransferase 6 domain-containing protein 1

      See identical proteins and their annotated locations for NP_892019.2

      Status: VALIDATED

      Source sequence(s)
      AL354761, AY336054
      Consensus CDS
      CCDS43900.1
      UniProtKB/Swiss-Prot
      Q7Z4J2
      Related
      ENSP00000360829.1, ENST00000371763.6
      Conserved Domains (1) summary
      cl11394
      Location:42 → 276
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      135623648..135641216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518637.3 → XP_011516939.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011516939.1

      UniProtKB/Swiss-Prot
      Q7Z4J2
      Conserved Domains (1) summary
      cl11394
      Location:42 → 276
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. XM_024447534.2 → XP_024303302.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q7Z4J2
      Conserved Domains (1) summary
      cl11394
      Location:42 → 276
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    3. XM_011518635.3 → XP_011516937.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516937.1

      Conserved Domains (1) summary
      cl11394
      Location:42 → 312
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    4. XM_047423349.1 → XP_047279305.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    5. XM_011518638.3 → XP_011516940.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      cl11394
      Location:58 → 244
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      147850032..147867609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362924.1 → XP_054218899.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q7Z4J2

    2. XM_054362923.1 → XP_054218898.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    3. XM_054362922.1 → XP_054218897.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

    4. XM_054362925.1 → XP_054218900.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4J2.2 GenPept UniProtKB/Swiss-Prot:Q7Z4J2

    Gene LinkOut

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

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