Gene Gene information from NCBI Gene database.
Entrez ID 22846
Gene name Vasohibin 1
Gene symbol VASH1
Synonyms (NCBI Gene)
KIAA1036TTCP 1
Chromosome 14
Chromosome location 14q24.3
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT017737 hsa-miR-335-5p Microarray 18185580
MIRT650920 hsa-miR-5088-3p HITS-CLIP 23824327
MIRT650919 hsa-miR-877-3p HITS-CLIP 23824327
MIRT650918 hsa-miR-3667-3p HITS-CLIP 23824327
MIRT650917 hsa-miR-152-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IDA 15467828
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 19204325
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 15467828
GO:0003779 Function Actin binding IDA 29146869
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609011 19964 ENSG00000071246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L8A9
Protein name Tubulinyl-Tyr carboxypeptidase 1 (EC 3.4.17.17) (Tubulin carboxypeptidase 1) (Tyrosine carboxypeptidase 1) (TTCP 1) (Vasohibin-1)
Protein function Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869, PubMed:31171830, PubMed:31235910, PubMed:31235911, PubMed:31270470). Critical for spi
PDB 6J4U , 6J7B , 6J8F , 6J8N , 6J8O , 6J91 , 6J9H , 6K81 , 6LPG , 6NVQ , 6OCF , 6OCG , 6OCH , 6WSL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14822 Vasohibin 58 302 Vasohibin Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in endothelial cells (PubMed:15467828, PubMed:16707096). Highly expressed in fetal organs (PubMed:15467828). Expressed in brain and placenta, and at lower level in heart and kidney (PubMed:15467828). Highly det
Sequence
Sequence length 365
Interactions View interactions
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
LIVER CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION Disgenet
★★☆☆☆
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 lung (disorder) Lung adenocarcinoma BEFREE 29552154
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis Pubtator 25843115 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 20035291 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 29042936
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28693142
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Ductal carcinoma Pubtator 20704578 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 20704578 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Intraductal Noninfiltrating Intraductal noninfiltrating carcinoma Pubtator 20704578 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29042936
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29552154, 31823788
★☆☆☆☆
Found in Text Mining only