Gene Gene information from NCBI Gene database.
Entrez ID 7447
Gene name Visinin like 1
Gene symbol VSNL1
Synonyms (NCBI Gene)
HLP3HPCAL3HUVISL1VILIPVILIP-1
Chromosome 2
Chromosome location 2p24.2
Summary This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intra
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT003036 hsa-miR-181b-5p Luciferase assay/RT-PCR 18184693
MIRT003036 hsa-miR-181b-5p Luciferase reporter assay 18184693
MIRT003036 hsa-miR-181b-5p Reporter assay;Other 18184693
MIRT721306 hsa-miR-518e-3p HITS-CLIP 19536157
MIRT721305 hsa-miR-6873-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16189514, 16713569, 25416956, 32296183, 32814053
GO:0005829 Component Cytosol IEA
GO:0009966 Process Regulation of signal transduction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600817 12722 ENSG00000163032
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62760
Protein name Visinin-like protein 1 (VILIP) (VLP-1) (Hippocalcin-like protein 3) (HLP3)
Protein function Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00036 EF-hand_1 64 92 EF hand Domain
PF13499 EF-hand_7 98 176 EF-hand domain pair Domain
PF00036 EF-hand_1 100 128 EF hand Domain
Tissue specificity TISSUE SPECIFICITY: Brain and retina. Neuron-specific in the central and peripheral nervous system. Increased in the cerebrospinal fluid of Alzheimer disease patients (at protein level). {ECO:0000269|PubMed:18703769}.
Sequence
MGKQNSKLAPEVMEDLVKSTEFNEHELKQWYKGFLKDCPSGRLNLEEFQQLYVKFFPYGD
ASKFAQHAFRTFDKNGDGTIDFREFICALSITSRGSFEQKLNWAFNMYDLDGDGKITRVE
MLEIIEAI
YKMVGTVIMMKMNEDGLTPEQRVDKIFSKMDKNKDDQITLDEFKEAAK
SDPS
IVLLLQCDIQK
Sequence length 191
Interactions View interactions
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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
Acute Cerebrovascular Accidents Stroke BEFREE 30826210
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 25806004
★☆☆☆☆
Found in Text Mining only
Acute transient psychotic disorder Transient Psychotic Disorder GWASCAT_DG 22005930
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 22331379
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35185794 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18703769, 36419075 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 26517091, 26769253, 30329219, 30846386 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 25806004
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 25806004
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 30846386
★☆☆☆☆
Found in Text Mining only