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VSNL1 visinin like 1 [ Homo sapiens (human) ]

Gene ID: 7447, updated on 6-May-2021

Summary

Official Symbol
VSNL1provided by HGNC
Official Full Name
visinin like 1provided by HGNC
Primary source
HGNC:HGNC:12722
See related
Ensembl:ENSG00000163032 MIM:600817
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLP3; VILIP; HPCAL3; HUVISL1; VILIP-1
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 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]
Expression
Biased expression in brain (RPKM 206.9), esophagus (RPKM 16.5) and 2 other tissues See more
Orthologs
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Genomic context

See VSNL1 in Genome Data Viewer
Location:
2p24.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (17539972..17657018)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (17721239..17838285)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373448 Neighboring gene nascent polypeptide associated complex subunit alpha pseudogene Neighboring gene RAD51 associated protein 2 Neighboring gene structural maintenance of chromosomes 6 Neighboring gene uncharacterized LOC105373449 Neighboring gene GEN1 Holliday junction 5' flap endonuclease

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
visinin-like protein 1
Names
VLP-1
hippocalcin-like protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001366803.2NP_001353732.1  visinin-like protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC079839, AC097377
    Related
    ENSP00000384719.1, ENST00000406397.1
    Conserved Domains (1) summary
    COG5126
    Location:15181
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001366804.2NP_001353733.1  visinin-like protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC079839, AC097377
    Conserved Domains (1) summary
    COG5126
    Location:15124
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. NM_001366805.2NP_001353734.1  visinin-like protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC079839, AC097377
    Conserved Domains (1) summary
    cl08302
    Location:40104
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  4. NM_001366806.2NP_001353735.1  visinin-like protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC079839, AC097377
    Conserved Domains (1) summary
    COG5126
    Location:15181
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  5. NM_003385.5NP_003376.2  visinin-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_003376.2

    Status: REVIEWED

    Source sequence(s)
    AC097377, BC022012, BF055598, BI544338
    Consensus CDS
    CCDS1689.1
    UniProtKB/Swiss-Prot
    P62760
    Related
    ENSP00000295156.4, ENST00000295156.9
    Conserved Domains (1) summary
    COG5126
    Location:15181
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    17539972..17657018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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