1. Gene
  2. VSNL1 - visinin like 1 Gene

VSNL1 - visinin like 1 Gene

中文名称:样 1

种属: Homo sapiens

同用名: HLP3; VILIP; HPCAL3; HUVISL1; VILIP-1

基因 ID: 7447 | 基因类型: protein coding

关于 VSNL1

Cytogenetic location: 2p24.2 Genomic coordinates (GRCh38): 2:17,539,972-17,657,018 (from NCBI)

This gene has 6 transcripts (splice variants), 263 orthologues and 14 paralogues. Biased expression in brain (RPKM 206.9), esophagus (RPKM 16.5) and 2 other tissues.

功能概要

该基因是神经元钙传感器蛋白的 visinin/recoverin 亚家族的成员。编码的蛋白质在小脑的颗粒细胞中强烈表达,在那里它以钙依赖性方式与细胞膜结合,并通过直接或间接调节腺苷酸环化酶的活性来调节中枢神经系统的细胞内信号通路。已观察到可变剪接的转录本变体,但尚未确定其全长性质。[RefSeq 提供,2008 年 7 月]

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]

VSNL1 基因产物(5)

mRNA Protein Name
NM_001366803.2 NP_001353732.1 visinin-like protein 1 isoform 1
NM_001366804.2 NP_001353733.1 visinin-like protein 1 isoform 2
NM_001366805.2 NP_001353734.1 visinin-like protein 1 isoform 3
NM_001366806.2 NP_001353735.1 visinin-like protein 1 isoform 1
NM_003385.5 NP_003376.2 visinin-like protein 1 isoform 1

VSNL1 蛋白结构

EF-hand_1

EF-hand_1: EF hand (66 - 90)

EF-hand_7

EF-hand_7: EF-hand domain pair (101 - 174)

  • 0
  • 100
  • 191 a.a.
蛋白主名 其他名称

visinin-like protein 1

VLP-1

重组 VSNL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71427 VSNL1 Protein, Human (His) P62760 (M1-K191) ≥95%
HY-P76694 VSNL1 Protein, Human P62760 (G2-K191) ≥95%

关联疾病

疾病名称 别名
Abcd Syndrome

ABCDS

Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness

Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus VSNL1 VGNC VGNC:36841
Felis catus VSNL1 VGNC VGNC:66981
Macaca mulatta VSNL1 VGNC VGNC:106244
Mus musculus VSNL1 MGD MGI:1349453
Rattus norvegicus VSNL1 RGD RGD:3966
Others VSNL1 NCBI