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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 Show/Hide all (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 Reference Evidence Score
SYSTEMIC LUPUS ERYTHEMATOSUS — GWAS catalog 29967481
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
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