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VSNL1 Gene(Protein Coding)

Visinin Like 1

GCID:
GC02P017539
GIFtS:
59
Genes Participants
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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. 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VSNL1 Gene

Genomics for VSNL1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for VSNL1 Gene

Enhancers for VSNL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G017587 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +52.4 52397 8.0 PKNOX1 FOXA2 ATF1 MLX CREB3L1 ARID4B DMAP1 TCF12 SLC30A9 ZNF766 VSNL1 GEN1 MSGN1 PIR36041 GC02M017549
GH02G017578 1.2 ENCODE dbSUPER 16.8 +40.3 40283 2.6 FOXA2 MLX ARID4B ZNF48 YY1 SLC30A9 SP5 PPARG KAT8 MIER3 VSNL1 GEN1 GC02M017549 PIR36041
GH02G017537 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.4 +2.4 2421 7.3 HNRNPUL1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 SP5 RAD51AP2 VSNL1 GEN1 MSGN1 GC02M017549
GH02G017619 0.9 ENCODE dbSUPER 15.3 +81.8 81825 2.6 FEZF1 TBX21 ZFHX2 JUND ZNF366 ZNF585B GLIS1 ZNF512 ZNF341 FOS VSNL1 GEN1 PIR36041
GH02G017642 1.3 Ensembl ENCODE 10.3 +105.5 105486 4.0 PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 FOS DEK GEN1 VSNL1 SMC6 PIR36041
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VSNL1 on UCSC Golden Path with GeneCards custom track

Promoters for VSNL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000113397 574 3401 HNRNPUL1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 SP5

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

Genomic Location for VSNL1 Gene

Chromosome:
2
Start:
17,539,126 bp from pter
End:
17,657,018 bp from pter
Size:
117,893 bases
Orientation:
Plus strand

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 Structure • Gene Density

RefSeq DNA sequence for VSNL1 Gene

Proteins for VSNL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for VSNL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for VSNL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VSNL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for VSNL1 Gene

Domains & Families for VSNL1 Gene

Gene Families for VSNL1 Gene

HGNC:

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

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

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

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

Animal Model Products

Inhibitory RNA Products

Clone 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 for VSNL1 Gene

Pathways & Interactions for VSNL1 Gene

SuperPathways for VSNL1 Gene

PathCards logo More details on SuperPathways for VSNL1
SuperPathway Contained pathways
1 Neuroscience
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

Products:

  1. Drug

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

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

Transcripts for VSNL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 :

Unigene Clusters for VSNL1 Gene

Visinin-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for VSNL1 Gene
mRNA expression by BioGPS for VSNL1 GenemRNA expression by GTEx 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 35
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia VSNL1 34 35
  • 99.13 (n)
cow
(Bos Taurus)
 Mammalia VSNL1 34 35
  • 94.76 (n)
rat
(Rattus norvegicus)
 Mammalia Vsnl1 34
  • 91.97 (n)
mouse
(Mus musculus)
 Mammalia Vsnl1 34 16 35
  • 91.8 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia VSNL1 35
  • 91 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves VSNL1 34 35
  • 89.18 (n)
lizard
(Anolis carolinensis)
 Reptilia VSNL1 35
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia vsnl1 34
  • 85.17 (n)
zebrafish
(Danio rerio)
 Actinopterygii vsnl1a 35
  • 96 (a)
 OneToMany
vsnl1b 34 35
  • 83.77 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.335 34
fruit fly
(Drosophila melanogaster)
 Insecta Nca 36 35
  • 71 (a)
CG7646 36
  • 45 (a)
worm
(Caenorhabditis elegans)
 Secernentea ncs-2 36
  • 45 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000006256 -- 17,571,149(+) TATGA(C/T)CTAAA intron-variant
rs1000016763 -- 17,603,215(+) ACCAA(A/G)TAGTG intron-variant
rs1000041972 -- 17,581,777(+) TTATC(A/G)CTCAA intron-variant
rs1000050809 -- 17,538,792(+) GAGAT(G/T)TTGAA upstream-variant-2KB
rs1000095763 -- 17,609,196(+) CTAGG(G/T)TGTTG intron-variant

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

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

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)

Relevant External Links 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

Disorder Aliases PubMed IDs
acute encephalopathy with biphasic seizures and late reduced diffusion
  • aesd
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search VSNL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VSNL1

Genetic Association Database (GAD)
VSNL1
Human Genome Epidemiology (HuGE) Navigator
VSNL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VSNL1
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 M.H. … Lennon G.G. (Genomics 1995) 2 3 4 22 64
  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 Seq. 1998) 3 4 22 64
  3. Genome-wide association study of Alzheimer's disease with psychotic symptoms. (PMID: 22005930) Hollingworth P. … Williams J. (Mol. Psychiatry 2012) 3 46 64
  4. Visinin-like protein 1 regulates natriuretic peptide receptor B in the heart. (PMID: 20079378) Buttgereit J. … Bader M. (Regul. Pept. 2010) 3 22 64
  5. MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia. (PMID: 20347265) Xu Y. … Liu P. (Schizophr. Res. 2010) 3 46 64

Products for VSNL1 Gene

Sources for VSNL1 Gene

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