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Aliases for VSNL1 Gene

Aliases for VSNL1 Gene

  • Visinin Like 1 2 3 5
  • Hippocalcin-Like Protein 3 2 3 4
  • VILIP 3 4
  • VLP-1 3 4
  • HLP3 3 4
  • Visinin-Like Protein 1 3
  • HUVISL1 3
  • VILIP-1 3
  • HPCAL3 3
  • VISL1 4

External Ids for VSNL1 Gene

Previous GeneCards Identifiers for VSNL1 Gene

  • GC02P017607
  • GC02P017706
  • GC02P017643
  • GC02P017496
  • GC02P017720

Summaries for VSNL1 Gene

Entrez Gene Summary 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.

Gene Wiki entry for VSNL1 Gene

Additional gene information for VSNL1 Gene

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

Top Transcription factor binding sites by QIAGEN in the VSNL1 gene promoter:

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:
VSNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VSNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

neXtProt entry for VSNL1 Gene

Post-translational modifications for VSNL1 Gene

No Post-translational modifications

Other Protein References for VSNL1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VSNL1 (VSNL1)
  • Abcam antibodies for VSNL1

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

Suggested Antigen Peptide Sequences for VSNL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62760

UniProtKB/Swiss-Prot:

VISL1_HUMAN :
  • Belongs to the recoverin family.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with VSNL1: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with VSNL1: view

Phenotypes for VSNL1 Gene

genes like me logo Genes that share phenotypes with VSNL1: view

Animal Model Products

Inhibitory RNA Products

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VSNL1 gene
Compartment Confidence
cytosol 4
peroxisome 2
plasma membrane 1
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for VSNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with VSNL1: view

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

SuperPathways for VSNL1 Gene

SuperPathway Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with VSNL1: view

Pathways by source for VSNL1 Gene

1 Cell Signaling Technology pathway for VSNL1 Gene

Gene Ontology (GO) - Biological Process for VSNL1 Gene

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 --
genes like me logo Genes that share ontologies with VSNL1: view

No data available for SIGNOR curated interactions for VSNL1 Gene

Drugs & Compounds for VSNL1 Gene

(1) Drugs for VSNL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with VSNL1: view

Transcripts for VSNL1 Gene

Unigene Clusters for VSNL1 Gene

Visinin-like 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for VSNL1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5
SP1:
SP2: - -
SP3:

Relevant External Links for VSNL1 Gene

GeneLoc Exon Structure for
VSNL1
ECgene alternative splicing isoforms for
VSNL1

Expression for VSNL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VSNL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for VSNL1 Gene

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:

VSNL1

SOURCE GeneReport for Unigene cluster for VSNL1 Gene:

Hs.444212

mRNA 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)
genes like me logo Genes that share expression patterns with VSNL1: view

Primer Products

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.

Orthologs for VSNL1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia VSNL1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VSNL1 33 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia VSNL1 33 34
  • 94.76 (n)
rat
(Rattus norvegicus)
Mammalia Vsnl1 33
  • 91.97 (n)
mouse
(Mus musculus)
Mammalia Vsnl1 33 16 34
  • 91.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VSNL1 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves VSNL1 33 34
  • 89.18 (n)
lizard
(Anolis carolinensis)
Reptilia VSNL1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vsnl1 33
  • 85.17 (n)
zebrafish
(Danio rerio)
Actinopterygii vsnl1a 34
  • 96 (a)
OneToMany
vsnl1b 33 34
  • 83.77 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.335 33
fruit fly
(Drosophila melanogaster)
Insecta Nca 35 34
  • 71 (a)
CG7646 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea ncs-2 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
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)

Evolution for VSNL1 Gene

ENSEMBL:
Gene Tree for VSNL1 (if available)
TreeFam:
Gene Tree for VSNL1 (if available)

Paralogs for VSNL1 Gene

Variants for VSNL1 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for VSNL1 Gene

Variant ID Type Subtype PubMed ID
nsv997502 CNV gain 25217958
nsv472212 CNV novel sequence insertion 20440878
esv3583658 CNV loss 25503493
esv2719748 CNV deletion 23290073

Variation tolerance for VSNL1 Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for VSNL1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with VSNL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VSNL1 Gene

Publications for VSNL1 Gene

  1. 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
  2. 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
  3. Genome-wide association study of Alzheimer's disease with psychotic symptoms. (PMID: 22005930) Hollingworth P … Williams J (Molecular psychiatry 2012) 3 44 58
  4. 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
  5. 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

Sources for VSNL1 Gene

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