Aliases for VSNL1 Gene
Aliases for VSNL1 Gene
External Ids for VSNL1 Gene
- HGNC: 12722
- Entrez Gene: 7447
- Ensembl: ENSG00000163032
- OMIM: 600817
- UniProtKB: P62760
Previous GeneCards Identifiers for VSNL1 Gene
- GC02P017607
- GC02P017706
- GC02P017643
- GC02P017496
- GC02P017720
Summaries for VSNL1 Gene
-
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 intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for VSNL1 Gene
VSNL1 (Visinin Like 1) is a Protein Coding gene. Diseases associated with VSNL1 include Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion and Alzheimer Disease. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is HPCAL4.
UniProtKB/Swiss-Prot for VSNL1 Gene
-
Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner.
Additional gene information for VSNL1 Gene
- Monarch Initiative
- Search for VSNL1 at DataMed
- Search for VSNL1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VSNL1 Gene
Genomics for VSNL1 Gene
GeneHancer (GH) Regulatory Elements for VSNL1 Gene
Promoters and enhancers for VSNL1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02I017537 | Promoter/Enhancer | 2.6 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 558.4 | +2.4 | 2420 | 7.3 | MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 SLC30A9 GLIS2 | VSNL1 RAD51AP2 GEN1 MSGN1 GC02M017549 | |
| GH02I017578 | Promoter/Enhancer | 1.6 | EPDnew ENCODE dbSUPER | 566.8 | +40.3 | 40282 | 2.6 | ELF3 FOXA2 MLX ARID4B DNMT3B THRB ZNF48 RARA SLC30A9 CREM | VSNL1 GEN1 GC02M017549 PIR36041 | |
| GH02I017587 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 17.9 | +52.4 | 52397 | 8 | ATF1 PKNOX1 FOXA2 MLX ARID4B DMAP1 ETS1 SLC30A9 TCF12 ZNF766 | VSNL1 GEN1 MSGN1 PIR36041 GC02M017549 | |
| GH02I017642 | Enhancer | 1.2 | Ensembl ENCODE | 10.3 | +105.5 | 105485 | 4 | PKNOX1 SMAD1 FOXA2 ARNT ARID4B ZNF2 IRF4 YY1 ZNF143 ATF7 | GEN1 VSNL1 SMC6 PIR36041 | |
| GH02I017619 | Enhancer | 0.7 | ENCODE dbSUPER | 15.4 | +81.8 | 81825 | 2.6 | ZFHX2 ZNF366 ZNF512 ZNF341 FOS SP7 EGR2 | VSNL1 GEN1 PIR36041 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around VSNL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for VSNL1 Gene
Genomic Locations for VSNL1 Gene
- chr2:17,539,126-17,657,018
- (GRCh38/hg38)
- Size:
- 117,893 bases
- Orientation:
- Plus strand
- chr2:17,720,393-17,838,285
- (GRCh37/hg19)
Genomic View for VSNL1 Gene
Genes around VSNL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p24.2 by Ensembl
- 2p24.2 by Entrez Gene
- 2p24.2 by HGNC
VSNL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for VSNL1 Gene
Proteins for VSNL1 Gene
-
Protein details for VSNL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P62760-VISL1_HUMAN
- Recommended name:
- Visinin-like protein 1
- Protein Accession:
- P62760
- D6W515
- P28677
- P29103
- P42323
- Q9UM20
Protein attributes for VSNL1 Gene
- Size:
- 191 amino acids
- Molecular mass:
- 22142 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- Probably binds three calcium ions.
Protein Expression for VSNL1 Gene
Post-translational modifications for VSNL1 Gene
No Post-translational modifications
Other Protein References for VSNL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for VSNL1 (VSNL1)
-
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- CF801994
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- TA337122
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- TA337119
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- AP54522PU-N
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- UM870035
- UM800035
- UM870034
- UM800034
- CF802260
- TA802260
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- CF802256
- TA802256
- CF802255
- TA802255
- CF802254
- TA802254
- CF802102
- TA802102
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Abcam antibodies for VSNL1
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-
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Protein Products
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Cloud-Clone Corp. Proteins for VSNL1
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ProSci Proteins for VSNL1
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Abcam proteins for VSNL1
Assay Products
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Cloud-Clone Corp. Assay Kits for VSNL1
- antibodies-online: Search results for 15 available VSNL1 Elisa Kits ranked by validation data
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Quality Products:
No data available for DME Specific Peptides for VSNL1 Gene
Domains & Families for VSNL1 Gene
Gene Families for VSNL1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for VSNL1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for VSNL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P62760- Family:
-
- Belongs to the recoverin family.
Function for VSNL1 Gene
Molecular function for VSNL1 Gene
- GENATLAS Biochemistry:
- visinin-like peptide 1,homolog to Rat RNVP1
- UniProtKB/Swiss-Prot Function:
- Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner.
Phenotypes From GWAS Catalog for VSNL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for VSNL1 Gene
- GenomeRNAi human phenotypes for VSNL1:
Animal Model Products
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CRISPR Products
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OriGene CRISPR knockouts for VSNL1
- genomics-online: gRNA clones - Search results for available VSNL1 gene related products
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Vectors and viruses for KO, Activation, Repression, and more
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Santa Cruz Biotechnology (SCBT) CRISPR for VSNL1
- GenScript: Design CRISPR guide RNA sequences for VSNL1
miRNA for VSNL1 Gene
- miRTarBase miRNAs that target VSNL1
-
- hsa-mir-181b-5p (MIRT003036)
- hsa-mir-599 (MIRT449349)
- hsa-mir-3161 (MIRT449350)
- hsa-mir-5585-3p (MIRT449351)
- hsa-mir-8054 (MIRT449352)
- hsa-mir-548k (MIRT449353)
- hsa-mir-548av-5p (MIRT449354)
- hsa-mir-548n (MIRT449356)
- hsa-mir-6818-5p (MIRT552902)
- hsa-mir-574-5p (MIRT552903)
- hsa-mir-6867-5p (MIRT552904)
- hsa-mir-1257 (MIRT552905)
- hsa-mir-22-3p (MIRT552906)
- hsa-mir-5010-3p (MIRT607620)
- hsa-mir-147a (MIRT607621)
- hsa-mir-195-3p (MIRT607622)
- hsa-mir-16-2-3p (MIRT607623)
- hsa-mir-4703-5p (MIRT607624)
- hsa-mir-3942-5p (MIRT607625)
- hsa-mir-587 (MIRT721301)
- hsa-mir-8068 (MIRT721302)
- hsa-mir-5087 (MIRT721303)
- hsa-mir-520g-5p (MIRT721304)
- hsa-mir-6873-5p (MIRT721305)
- hsa-mir-518e-3p (MIRT721306)
- hsa-mir-1273h-3p (MIRT783346)
- hsa-mir-2113 (MIRT784218)
- hsa-mir-3158-5p (MIRT784703)
- hsa-mir-3166 (MIRT784720)
- hsa-mir-3672 (MIRT785170)
- hsa-mir-4461 (MIRT785943)
- hsa-mir-4494 (MIRT786008)
- hsa-mir-4499 (MIRT786018)
- hsa-mir-4771 (MIRT786711)
- hsa-mir-4790-3p (MIRT786776)
- hsa-mir-6864-3p (MIRT789175)
- hsa-mir-873-3p (MIRT789873)
miRNA Products
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Clone Products
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Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for VSNL1
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VSNL1 Gene
Localization for VSNL1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| peroxisome | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for VSNL1 Gene
Pathways & Interactions for VSNL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neuroscience | ||
Pathways by source for VSNL1 Gene
1 Cell Signaling Technology pathway for VSNL1 Gene
Interacting Proteins for VSNL1 Gene
Selected Interacting proteins:
ENSP00000295156
P62760-VISL1_HUMAN
for VSNL1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0035774 | positive regulation of insulin secretion involved in cellular response to glucose stimulus | IEA | -- |
| GO:0045921 | positive regulation of exocytosis | IEA | -- |
| GO:0046676 | negative regulation of insulin secretion | IEA | -- |
No data available for SIGNOR curated interactions for VSNL1 Gene
Drugs & Compounds for VSNL1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
Transcripts for VSNL1 Gene
mRNA/cDNA for VSNL1 Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (187) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for VSNL1
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VSNL1
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miRNA Products
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Inhibitory RNA Products
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Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - | - | |||||||||||||
| SP3: |
Expression for VSNL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Skeletal Muscle (Muscoskeletal System)
- Myoblasts Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Myoblasts Hyoid Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud Tip Cells Ureteric Bud
- Ureteric Bud
-
Lung (Respiratory System)
- Basal Cells Trachea
-
Epithelial Cells
- Basal Cells Trachea
- Neural Tube (Nervous System)
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for VSNL1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x11.7), Brain - Anterior cingulate cortex (BA24) (x9.1), Brain - Cortex (x7.3), and Brain - Cerebellar Hemisphere (x5.5).
This gene is overexpressed in Frontal cortex (35.5) and Brain (19.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VSNL1 Gene
NURSA nuclear receptor signaling pathways regulating expression of VSNL1 Gene:
VSNL1SOURCE GeneReport for Unigene cluster for VSNL1 Gene:
Hs.444212mRNA Expression by UniProt/SwissProt for VSNL1 Gene:
P62760-VISL1_HUMAN
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).
Evidence on tissue expression from TISSUES for VSNL1 Gene
- Nervous system(5)
- Adrenal gland(2.1)
Primer Products
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OriGene qPCR primer pairs for VSNL1
-
OriGene qPCR primer pairs and template standards for VSNL1
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No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for VSNL1 Gene
Orthologs for VSNL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | VSNL1 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | VSNL1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | VSNL1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Vsnl1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Vsnl1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | VSNL1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | VSNL1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | VSNL1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | vsnl1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | vsnl1a 34 |
|
OneToMany | |
| vsnl1b 33 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.335 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Nca 35 34 |
|
||
| CG7646 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | ncs-2 35 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for VSNL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for VSNL1 Gene
Paralogs for VSNL1 Gene
(22) SIMAP similar genes for VSNL1 Gene using alignment to 5 proteins:
Variants for VSNL1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000006256 | -- | 17,571,149(+) | T/C | intron_variant | |
| rs1000016763 | -- | 17,603,215(+) | G/A | intron_variant | |
| rs1000041972 | -- | 17,581,777(+) | G/A | intron_variant | |
| rs1000050809 | -- | 17,538,792(+) | T/G | upstream_transcript_variant | |
| rs1000095763 | -- | 17,609,196(+) | G/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2719748 | CNV | deletion | 23290073 |
| esv3583658 | CNV | loss | 25503493 |
| nsv472212 | CNV | novel sequence insertion | 20440878 |
| nsv997502 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.09;
2.10% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for VSNL1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- VSNL1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VSNL1 Gene
Disorders for VSNL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acute encephalopathy with biphasic seizures and late reduced diffusion |
|
|
| alzheimer disease |
|
Search VSNL1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for VSNL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for VSNL1 Gene
Publications for VSNL1 Gene
- Sequence characterization and genetic mapping of the human VSNL1 gene, a homologue of the rat visinin-like peptide RNVP1. (PMID: 8530085) Polymeropoulos MH … Lennon GG (Genomics 1995) 2 3 4 22 58
- Isolation of two human cDNAs, HLP3 and HLP4, homologous to the neuron-specific calcium-binding protein genes. (PMID: 10520747) Kobayashi M … Takamatsu K (DNA sequence : the journal of DNA sequencing and mapping 1998) 3 4 22 58
- Genome-wide association study of Alzheimer's disease with psychotic symptoms. (PMID: 22005930) Hollingworth P … Williams J (Molecular psychiatry 2012) 3 44 58
- MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia. (PMID: 20347265) Xu Y … Liu P (Schizophrenia research 2010) 3 44 58
- Visinin-like protein 1 regulates natriuretic peptide receptor B in the heart. (PMID: 20079378) Buttgereit J … Bader M (Regulatory peptides 2010) 3 22 58
Products for VSNL1 Gene
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- AP11591PU-N
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- UM800034
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- Browse OriGene ELISA Kits
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Sources for VSNL1 Gene
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