GLT6D1 (glycosyltransferase 6 domain containing 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 360203
Gene name Glycosyltransferase 6 domain containing 1
Gene symbol GLT6D1
Synonyms (NCBI Gene)
GLTDC1GT6M7
Chromosome 9
Chromosome location 9q34.3
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IBA
GO:0005975 Process Carbohydrate metabolic process IEA
GO:0016020 Component Membrane IEA
GO:0016740 Function Transferase activity IEA
GO:0016757 Function Glycosyltransferase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613699 23671 ENSG00000204007
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z4J2
Protein name Putative glycosyltransferase 6 domain-containing protein 1 (EC 2.4.1.-) (Galactosyltransferase family 6 domain-containing 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03414 Glyco_transf_6 11 → 276 Glycosyltransferase family 6 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in both healthy and inflamed gingival tissue samples at similar levels, with higher expression in the gingival connective tissue compared to gingival epithelium. Strongest expression in testis, followed by leukocytes. {ECO:00
Sequence
Sequence length 276
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PERIODONTITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aggressive Periodontitis Aggressive Periodontitis BEFREE 19897590, 24528298, 25682733, 30030838, 30303256
★★★★★
★☆☆☆☆
Found in Text Mining only
Periodontal Diseases Periodontal disease Pubtator 34222791, 35703703 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Periodontitis Periodontitis BEFREE 19897590, 24528298
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Periodontitis Periodontitis GWASDB_DG 19897590
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Periodontitis Periodontitis GWASCAT_DG 19897590
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Periodontitis Periodontitis Pubtator 34515563, 35703703 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Periodontosis Periodontosis GWASCAT_DG 19897590
★★★★★
★☆☆☆☆
Found in Text Mining only