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

    Gene ID: 360203, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GLT6D1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135623648..135641216, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147850032..147867609, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_182974.3NP_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:42276
      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_2024_08

    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_011518637.3XP_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:42276
      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_024447534.2XP_024303302.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q7Z4J2
      Conserved Domains (1) summary
      cl11394
      Location:42276
      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_011518635.3XP_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:42312
      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_047423349.1XP_047279305.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

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

      Conserved Domains (1) summary
      cl11394
      Location:58244
      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_054362924.1XP_054218899.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q7Z4J2
    2. XM_054362923.1XP_054218898.1  putative glycosyltransferase 6 domain-containing protein 1 isoform X1

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

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