2. Gene
  3. VTI1A - vesicle transport through interaction with t-SNAREs 1A Gene

VTI1A - vesicle transport through interaction with t-SNAREs 1A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：通过与 t-SNAREs 1A 的相互作用进行囊泡运输

种属: Homo sapiens

同用名: MMDS3; MVti1; VTI1RP2; Vti1-rp2

基因 ID: 143187 | 基因类型: protein coding

关于 VTI1A

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:112,446,988-112,855,368 (from NCBI)

This gene has 10 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 62 phenotypes. Ubiquitous expression in brain (RPKM 1.6), bone marrow (RPKM 1.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质是可溶性 N-乙基马来酰亚胺敏感融合蛋白-附着蛋白受体 (SNARE) 家族的成员，在细胞内运输中发挥作用。该家族成员参与内体和跨高尔基体网络之间的囊泡运输。它是一种与靶膜 SNARE (t-SNARE) 相互作用的囊泡相关 SNARE (v-SNARE) 。该基因的多态性与双眼功能有关，也与结直肠癌和肺癌的易感性有关。已在结直肠癌中发现该基因与转录因子 7 样 2 (TCF7L2) 基因之间的反复重排。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

VTI1A 基因产物(8)

mRNA Protein Name
NM_001318203.2 NP_001305132.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform a
NM_001318205.2 NP_001305134.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform c
NM_001365710.2 NP_001352639.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform d
NM_001365711.1 NP_001352640.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform e
NM_001365712.1 NP_001352641.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform f
NM_001365713.1 NP_001352642.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform f
NM_001365714.1 NP_001352643.1 vesicle transport through interaction with t-SNAREs homolog 1A isoform g
NM_145206.4 NP_660207.2 vesicle transport through interaction with t-SNAREs homolog 1A isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SNAP receptor activity IDA
IDA: 通过直接分析推断
15215310 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24095276 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagy IMP
IMP: 通过突变表型推断
24095276 GOA
involved in endocytic recycling IMP
IMP: 通过突变表型推断
23677696 GOA
involved in retrograde transport, endosome to Golgi IDA
IDA: 通过直接分析推断
15215310 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
19224922 GOA
involved in voluntary musculoskeletal movement IMP
IMP: 通过突变表型推断
22958904 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
19224922 GOA
located in autophagosome IDA
IDA: 通过直接分析推断
24095276 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

VTI1A 蛋白结构

V-SNARE

V-SNARE: Vesicle transport v-SNARE protein N-terminus (12 - 90)

V-SNARE_C

V-SNARE_C: Snare region anchored in the vesicle membrane C-terminus (123 - 187)

  • 0
  • 100
  • 200
  • 217 a.a.
蛋白主名 其他名称

vesicle transport through interaction with t-SNAREs homolog 1A

SNARE Vti1a-beta protein

重组 VTI1A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76700 VTI1A Protein, Human (HEK293, His) Q96AJ9-2 (M1-R187) ≥95%
HY-P76701 VTI1A Protein, Human (HEK293, Fc) Q96AJ9-2 (M1-R187) ≥95%

关联疾病

疾病名称 别名
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b

PHP1B

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Type Ib

Php Ib

Pseudohypoparathyroidism 1b
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15722 VTI1A Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20519 Vti1a Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27028 Vti1a Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris VTI1A VGNC VGNC:48316
Mus musculus VTI1A MGD MGI:1855699
Bos taurus VTI1A VGNC VGNC:55979
Rattus norvegicus VTI1A RGD RGD:621490
Others VTI1A NCBI
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