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

Gene ID: 360203, updated on 2-Nov-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 (13) 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_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_011518637.3 → 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

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