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    VSNL1 visinin like 1 [ Homo sapiens (human) ]

    Gene ID: 7447, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:12722
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (17539972..17657018)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (17571738..17688768)
    RS_2024_09 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 BRD4-independent group 4 enhancer GRCh37_chr2:17699235-17700434 Neighboring gene RAD51 associated protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15351 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:17724689-17725200 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:17725201-17725712 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:17760843-17761612 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:17771124-17772061 Neighboring gene uncharacterized LOC124908054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:17825464-17826251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15352 Neighboring gene structural maintenance of chromosomes 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:17929152-17929835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11190 Neighboring gene uncharacterized LOC105373449 Neighboring gene Sharpr-MPRA regulatory region 14936 Neighboring gene GEN1 Holliday junction 5' flap endonuclease

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in cytosol  
    located_in membrane  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS1689.1
      UniProtKB/Swiss-Prot
      D6W515, P28677, P29103, P42323, P62760, Q9UM20
      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
      Consensus CDS
      CCDS1689.1
      UniProtKB/Swiss-Prot
      D6W515, P28677, P29103, P42323, P62760, Q9UM20
      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
      D6W515, P28677, P29103, P42323, P62760, Q9UM20
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      17571738..17688768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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