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

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: mouse all
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Genomic context

Location:: 2p24.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (17539972..17657018)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (17571738..17688768)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (17721239..17838285)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Visinin-like 1, a novel target gene of the Wnt/beta-catenin signaling pathway, is involved in apoptosis resistance in colorectal cancer.
Title: Visinin-like 1, a novel target gene of the Wnt/β-catenin signaling pathway, is involved in apoptosis resistance in colorectal cancer.
Visinin-like protein 1 levels in blood and CSF as emerging markers for Alzheimer's and other neurodegenerative diseases.
Title: Visinin-like protein 1 levels in blood and CSF as emerging markers for Alzheimer's and other neurodegenerative diseases.
Predictive value of serum visinin-like protein-1 for early neurologic deterioration and three-month clinical outcome in acute primary basal ganglia hemorrhage: A prospective and observational study.
Title: Predictive value of serum visinin-like protein-1 for early neurologic deterioration and three-month clinical outcome in acute primary basal ganglia hemorrhage: A prospective and observational study.
VSNL1 Promotes Cell Proliferation, Migration, and Invasion in Colorectal Cancer by Binding with COL10A1.
Title: VSNL1 Promotes Cell Proliferation, Migration, and Invasion in Colorectal Cancer by Binding with COL10A1.
Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
Title: Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
The BDNF level showed a significant ability to discriminate stroke and control patients but did not predict mortality. The VILIP-1 level showed insignificant ability to discriminate stroke patients and again did not predict mortality.
Title: Clinical usefulness of brain-derived neurotrophic factor and visinin-like protein-1 in early diagnostic tests for acute stroke.
Underexpression of VSNL1 is associated with glioblastoma multiforme.
Title: Dysregulated miR-671-5p / CDR1-AS / CDR1 / VSNL1 axis is involved in glioblastoma multiforme.
These data indicate that VILIP-1 alone or in combination with other AD CSF biomarkers represent a valuable marker for the early diagnosis of AD, recognition of MCI patients at higher risk to develop dementia, and in differentiating AD from LBD.
Title: Predictive Value of Cerebrospinal Fluid Visinin-Like Protein-1 Levels for Alzheimer's Disease Early Detection and Differential Diagnosis in Patients with Mild Cognitive Impairment.
These findings suggest a unique role for cerebrospinal fluid Vilip-1 as a biomarker of entorhinal cortex neuron loss in Alzheimer disease
Title: Altered Levels of Visinin-Like Protein 1 Correspond to Regional Neuronal Loss in Alzheimer Disease and Frontotemporal Lobar Degeneration.
The results suggest that both serum and cerebrospinal fluid levels of VILIP-1 may be one of predictive markers of acute encephalopathy with biphasic seizures.
Title: Serum and cerebrospinal fluid levels of visinin-like protein-1 in acute encephalopathy with biphasic seizures and late reduced diffusion.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80046 (e-PCR)
- UniSTS:83724

AU048745 (e-PCR)
- UniSTS:145195

BMON121 (e-PCR), detects polymorphism
- UniSTS:251709

D6Arb7 (e-PCR), detects polymorphism
- UniSTS:227972

SHGC-63465 (e-PCR)
- UniSTS:78231

D2S1414 (e-PCR)
- UniSTS:19866

D2S1629E (e-PCR)
- UniSTS:150691

D6Rat38 (e-PCR), detects polymorphism
- UniSTS:228066

SHGC-133056 (e-PCR)
- UniSTS:183293

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of exocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info

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

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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)

NM_001366803.2 → NP_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:15 → 181

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001366804.2 → NP_001353733.1 visinin-like protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC079839, AC097377

Conserved Domains (1) summary

COG5126
Location:15 → 124

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001366805.2 → NP_001353734.1 visinin-like protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC079839, AC097377

Conserved Domains (1) summary

cl08302
Location:40 → 104

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 ...
NM_001366806.2 → NP_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:15 → 181

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_003385.5 → NP_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:15 → 181

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]