Gene Gene information from NCBI Gene database.
Entrez ID 51534
Gene name Vesicle trafficking 1
Gene symbol VTA1
Synonyms (NCBI Gene)
6orf55C6orf55DRG-1DRG1HSPC228LIP5My012SBP1
Chromosome 6
Chromosome location 6q24.1-q24.2
Summary C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
667
miRTarBase ID miRNA Experiments Reference
MIRT717586 hsa-miR-4323 HITS-CLIP 19536157
MIRT717585 hsa-miR-3943 HITS-CLIP 19536157
MIRT717584 hsa-miR-6769a-3p HITS-CLIP 19536157
MIRT717583 hsa-miR-369-3p HITS-CLIP 19536157
MIRT717582 hsa-miR-7108-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15644320, 16189514, 16193069, 16730941, 18385515, 19129479, 19129480, 21543490, 23105106, 28514442, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
GO:0005771 Component Multivesicular body IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610902 20954 ENSG00000009844
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP79
Protein name Vacuolar protein sorting-associated protein VTA1 homolog (Dopamine-responsive gene 1 protein) (DRG-1) (LYST-interacting protein 5) (LIP5) (SKD1-binding protein 1) (SBP1)
Protein function Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling de
PDB 2LXL , 2LXM , 4TXP , 4TXQ , 4TXR , 4U7E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04652 Vta1 16 158 Vta1 like Family
PF18097 Vta1_C 266 303 Vta1 C-terminal domain Domain
Sequence
MAALAPLPPLPAQFKSIQHHLRTAQEHDKRDPVVAYYCRLYAMQTGMKIDSKTPECRKFL
SKLMDQLEALKKQLGDNEAITQEIVGCAHLENYALKMFLYADNEDRAGRFHKNMIKSFYT
ASLLIDVITVFGELTDENVKHRKYARWKATYIHNCLKN
GETPQAGPVGIEEDNDIEENED
AGAASLPTQPTQPSSSSTYDPSNMPSGNYTGIQIPPGAHAPANTPAEVPHSTGVASNTIQ
PTPQTIPAIDPALFNTISQGDVRLTPEDFARAQKYCKYAGSALQYEDVSTAVQNLQKALK
LLT
TGRE
Sequence length 307
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Budding and maturation of HIV virion
Endosomal Sorting Complex Required For Transport (ESCRT)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE 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
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 20332323
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 29228715
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 14991897, 27626498
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 18288642
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15184886, 15520163, 18224398
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27626498 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22481237
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27965399
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 28867194
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 31019652
★☆☆☆☆
Found in Text Mining only