Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27095
Gene name Gene Name - the full gene name approved by the HGNC.
Trafficking protein particle complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRAPPC3
Synonyms (NCBI Gene) Gene synonyms aliases
BET3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. A
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs751375244 G>A Likely-pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002767 hsa-miR-1-3p Microarray 15685193
MIRT002767 hsa-miR-1-3p Microarray;Other 15685193
MIRT030205 hsa-miR-26b-5p Microarray 19088304
MIRT1452045 hsa-miR-1265 CLIP-seq
MIRT1452046 hsa-miR-1299 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 16189514, 16828797, 16908848, 18930054, 21453443, 21525244, 21827752, 25416956, 28514442, 31515488, 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005794 Component Golgi apparatus IDA
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610955 19942 ENSG00000054116
Protein
UniProt ID O43617
Protein name Trafficking protein particle complex subunit 3 (BET3 homolog)
Protein function May play a role in vesicular transport from endoplasmic reticulum to Golgi.
PDB 1SZ7 , 2C0J , 2CFH , 3KXC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04051 TRAPP 19 166 Transport protein particle (TRAPP) component Family
Sequence
Sequence length 180
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bardet-biedl syndrome Bardet-Biedl Syndrome rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059
View all (560 more)
Diastrophic dysplasia Diastrophic dysplasia rs386833498, rs786200881, rs104893915, rs104893919, rs104893920, rs104893916, rs104893921, rs386833492, rs104893924, rs121908078, rs386833493, rs386833494, rs386833495, rs386833496, rs386833497
View all (32 more)
Keratosis follicularis Keratosis Follicularis rs28929478, rs121912731, rs1592839705, rs121912732, rs121912734, rs2137673961, rs1566240208, rs121912738, rs1592864859
Polydactyly Polydactyly rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474
View all (3 more)
Associations from Text Mining
Disease Name Relationship Type References
Ciliopathies Associate 27894351