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  2. SVIP - small VCP interacting protein Gene

SVIP - small VCP interacting protein Gene

中文名称:小 VCP 相互作用蛋白

种属: Homo sapiens

基因 ID: 258010 | 基因类型: protein coding

关于 SVIP

This gene has 5 transcripts (splice variants) and 90 orthologues. Ubiquitous expression in thyroid (RPKM 21.5), stomach (RPKM 10.9) and 25 other tissues.

功能概要

内质网相关降解 (ERAD) 是内质网中错误折叠的蛋白质靶向蛋白酶体进行降解的途径。多种特殊蛋白质在 ERAD 期间相互作用以完成这一过程。由该基因编码的蛋白质是 ERAD 的抑制剂,其功能是破坏这些蛋白质成分的相互作用。可能需要这种 ERAD 的下调来保护细胞免受过度活跃的蛋白质降解。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2016 年 2 月]

Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the Proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

SVIP 基因产物(4)

mRNA Protein Name
NM_001320340.1 NP_001307269.1 small VCP/p97-interacting protein isoform 1
NM_001320341.3 NP_001307270.1 small VCP/p97-interacting protein isoform 2
NM_001320342.3 NP_001307271.1 small VCP/p97-interacting protein isoform 4
NM_148893.3 NP_683691.1 small VCP/p97-interacting protein isoform 3
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 ATPase binding IPI
IPI: 通过物理相互作用推断
17872946 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17872946 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of ERAD pathway IMP
IMP: 通过突变表型推断
17872946 GOA
involved in negative regulation of protein-containing complex assembly IMP
IMP: 通过突变表型推断
17872946 GOA
involved in negative regulation of retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
25660456 GOA
involved in positive regulation of autophagy IMP
IMP: 通过突变表型推断
21909394 GOA
involved in positive regulation of protein lipidation IMP
IMP: 通过突变表型推断
21909394 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
17872946 GOA
located in membrane IDA
IDA: 通过直接分析推断
17872946 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
蛋白主名 其他名称

small VCP/p97-interacting protein

SVIP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SVIP Q8NHG7 UBXN6 Homo sapiens Q9BZV1 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Ibmpfd1

Msp1

Multisystem Proteinopathy 1

Developmental Coordination Disorder

Motor Skills Disorders

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

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
Mus musculus SVIP MGD MGI:1922994
Canis familiaris SVIP VGNC VGNC:52292
Rattus norvegicus SVIP RGD RGD:1565432
Macaca mulatta SVIP VGNC VGNC:78206