Gene Gene information from NCBI Gene database.
Entrez ID 10282
Gene name Bet1 golgi vesicular membrane trafficking protein
Gene symbol BET1
Synonyms (NCBI Gene)
HBET1MDRP
Chromosome 7
Chromosome location 7q21.3
Summary This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein recepto
miRNA miRNA information provided by mirtarbase database.
168
miRTarBase ID miRNA Experiments Reference
MIRT001564 hsa-miR-155-5p pSILAC 18668040
MIRT001564 hsa-miR-155-5p Proteomics;Other 18668040
MIRT037591 hsa-miR-744-5p CLASH 23622248
MIRT820976 hsa-miR-1252 CLIP-seq
MIRT820977 hsa-miR-128 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS 8621431
GO:0005484 Function SNAP receptor activity IBA
GO:0005515 Function Protein binding IPI 16189514, 25416956, 29568061, 32296183, 32814053, 33961781, 34779586, 35271311
GO:0005783 Component Endoplasmic reticulum IDA 34779586
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605456 14562 ENSG00000105829
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15155
Protein name BET1 homolog (hBET1) (Golgi vesicular membrane-trafficking protein p18)
Protein function Required for vesicular transport from the ER to the Golgi complex (PubMed:34779586). Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity). {ECO:0000250|UniProtKB:Q62896, ECO:0000
PDB 3EGX
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in muscle. {ECO:0000269|PubMed:34779586}.
Sequence
MRRAGLGEGVPPGNYGNYGYANSGYSACEEENERLTESLRSKVTAIKSLSIEIGHEVKTQ
NKLLAEMDSQFDSTTGFLGKTMGKLKILSRGSQTKLLCYMMLFSLFVFFIIYWIIKLR
Sequence length 118
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport   COPII-mediated vesicle transport
COPI-mediated anterograde transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
BRCAX BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Muscular dystrophy, congenital, with rapid progression Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Progressive muscle weakness Uncertain significance ClinVar
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 28341793, 29170295
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28827292
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30463886
★☆☆☆☆
Found in Text Mining only
Bronchiolitis Bronchiolitis BEFREE 30940682
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 34779586 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 29559542
★☆☆☆☆
Found in Text Mining only
Unverricht-Lundborg Syndrome Myoclonic Epilepsy BEFREE 28982678
★☆☆☆☆
Found in Text Mining only
Uterine Fibroids Uterine Fibroids BEFREE 23892540
★☆☆☆☆
Found in Text Mining only