Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55830
Gene name Gene Name - the full gene name approved by the HGNC.
Glycosyltransferase 8 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLT8D1
Synonyms (NCBI Gene) Gene synonyms aliases
AD-017, MSTP139
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031944 hsa-miR-16-5p Proteomics 18668040
MIRT1021747 hsa-miR-2052 CLIP-seq
MIRT1021748 hsa-miR-4328 CLIP-seq
MIRT1021749 hsa-miR-4452 CLIP-seq
MIRT1021750 hsa-miR-4539 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IBA
GO:0008194 Function UDP-glycosyltransferase activity IEA
GO:0016020 Component Membrane HDA 19946888
GO:0016020 Component Membrane IEA
GO:0016740 Function Transferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618399 24870 ENSG00000016864
Protein
UniProt ID Q68CQ7
Protein name Glycosyltransferase 8 domain-containing protein 1 (EC 2.4.1.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01501 Glyco_transf_8 67 340 Glycosyl transferase family 8 Family
Sequence
Sequence length 371
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis familial amyotrophic lateral sclerosis N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 35525134
Autism Spectrum Disorder Associate 28720891
Disease Models Animal Associate 25939412
Neoplasms Associate 24114764, 33963205, 37277853
Osteoarthritis Hip Associate 25939412
Sarcoma Associate 33963205
Squamous Cell Carcinoma of Head and Neck Associate 24114764
Stomach Neoplasms Associate 37277853