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VSNL1 visinin-like 1 [ Homo sapiens (human) ]

Gene ID: 7447, updated on 19-Jul-2014
Official Symbol
VSNL1provided by HGNC
Official Full Name
visinin-like 1provided by HGNC
Primary source
HGNC:12722
See related
Ensembl:ENSG00000163032; HPRD:02890; MIM:600817; Vega:OTTHUMG00000090645
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]
See VSNL1 in Epigenomics, MapViewer
Location:
2p24.3
Exon count :
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (17540540..17656439)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (17721807..17837706)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 10 Neighboring gene uncharacterized LOC101928149 Neighboring gene RAD51 associated protein 2 Neighboring gene structural maintenance of chromosomes 6 Neighboring gene GEN1 Holliday junction 5' flap endonuclease

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
visinin-like protein 1
Names
visinin-like protein 1
VLP-1
hippocalcin-like protein 3

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_003385.4NP_003376.2  visinin-like protein 1

    See proteins identical to NP_003376.2

    Status: REVIEWED

    Source sequence(s)
    AI143139, BC022012, BF055598, BI544338
    Consensus CDS
    CCDS1689.1
    UniProtKB/Swiss-Prot
    P62760
    Related
    ENSP00000295156, OTTHUMP00000115804, ENST00000295156, OTTHUMT00000207305
    Conserved Domains (3) summary
    COG5126
    Location:15181
    Blast Score: 268
    FRQ1; Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]
    cd00051
    Location:65125
    Blast Score: 166
    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 ...
    pfam13833
    Location:3986
    Blast Score: 77
    EF-hand_8; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    17540540..17656439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    17496887..17612808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    17651208..17767107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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