Gene Gene information from NCBI Gene database.
Entrez ID 2681
Gene name Glycoprotein alpha-galactosyltransferase 1 (inactive)
Gene symbol GGTA1
Synonyms (NCBI Gene)
GGTAGGTA1PGLYT2a1/3GTP
Chromosome 9
Chromosome location 9q33.2
Summary Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is thought to encode a truncated, non-enzymatic form of the GGTA1 protein that lacks the C-terminal catalytic domain. Aberrant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IEA
GO:0016020 Component Membrane IEA
GO:0031985 Component Golgi cisterna ISS
GO:0032580 Component Golgi cisterna membrane IEA
GO:1901750 Process Leukotriene D4 biosynthetic process ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
104175 4253 ENSG00000204136
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4G0N0
Protein name Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase (Glycoprotein alpha-galactosyltransferase 1 pseudogene)
Family and domains
Sequence
MNVKGKVILSMLVVSTVIIVFWEFINSTEGSFLWIYHSKNPEVDDSSAQKGWWFLSWFNN
GIHNYQQGEEDIDKEKGREETKGRKMTQQSFGYGTGLIQT
Sequence length 100
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA 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
Multiple Sclerosis Multiple Sclerosis BEFREE 29195140
★☆☆☆☆
Found in Text Mining only
nervous system disorder Nervous System Disorder BEFREE 29446202
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 22272310
★☆☆☆☆
Found in Text Mining only