Gene Gene information from NCBI Gene database.
Entrez ID 144423
Gene name Glycosyltransferase 1 domain containing 1
Gene symbol GLT1D1
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q24.33
miRNA miRNA information provided by mirtarbase database.
66
miRTarBase ID miRNA Experiments Reference
MIRT1021576 hsa-miR-1266 CLIP-seq
MIRT1021577 hsa-miR-1298 CLIP-seq
MIRT1021578 hsa-miR-151-5p CLIP-seq
MIRT1021579 hsa-miR-151b CLIP-seq
MIRT1021580 hsa-miR-3131 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005829 Component Cytosol IDA
GO:0016740 Function Transferase activity IEA
GO:0016757 Function Glycosyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MS3
Protein name Glycosyltransferase 1 domain-containing protein 1 (EC 2.4.-.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00534 Glycos_transf_1 154 319 Glycosyl transferases group 1 Family
Sequence
MRLLFLAVLRPHTGNAVTAQRVRAHLEAAGHVCVLKDAFDFESRSEIANLILAENCEAAL
ALHLYRGGRLLQGHRIPFGVIFGGTDVNEDANQAEKNTVMGRVLEEARFAVAFTESMKEM
AQAQWPHAKGKVYVQSQGIATTPNAAFNWNTFLQRSEINQSADNLHIFLLICGLRQVKDP
LYLVDAFSAWHQEEPNVHLVIVGPEVDPVFTREVKAKVKRAAGVRLIGEMPQEDLHAVVK
NCFAVVNSSVSEGMSAAILEAMDLEVPVLARNIPGNAAVVKHEVTGLLFSNPQEFVHLAK
RLVSDPALEKEIVVNGREY
VRMYHSWQVERDTYQQLIRKLEGSTED
Sequence length 346
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 26031901
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASDB_DG 23364394
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Intervertebral disc disease Pubtator 24904231 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 29967481 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 29967481, 30065249
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 29967481
★☆☆☆☆
Found in Text Mining only
Oropharyngeal Neoplasms Oropharyngeal neoplasm Pubtator 35459784 Associate
★☆☆☆☆
Found in Text Mining only