1. Gene
  2. VPS13A - vacuolar protein sorting 13 homolog A Gene

VPS13A - vacuolar protein sorting 13 homolog A Gene

中文名称:液泡蛋白分选 13 同系物 A

种属: Homo sapiens

同用名: CHAC; BLTP5A; CHOREIN

基因 ID: 23230 | 基因类型: protein coding

关于 VPS13A

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:77,177,534-77,421,537 (from NCBI)

This gene has 13 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 7.5), skin (RPKM 6.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质可以控制蛋白质通过反式高尔基体网络到核内体、溶酶体和质膜的循环步骤。该基因的突变会导致常染色体隐性遗传病、舞蹈病-棘红细胞增多症。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

VPS13A 基因产物(4)

mRNA Protein Name
NM_001018037.2 NP_001018047.1 intermembrane lipid transfer protein VPS13A isoform C
NM_001018038.3 NP_001018048.1 intermembrane lipid transfer protein VPS13A isoform D
NM_015186.4 NP_056001.1 intermembrane lipid transfer protein VPS13A isoform B
NM_033305.3 NP_150648.2 intermembrane lipid transfer protein VPS13A isoform A
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 protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within autophagy IMP
IMP: 通过突变表型推断
25996471 GOA
involved in lysosomal protein catabolic process IMP
IMP: 通过突变表型推断
30709847 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
30093493 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
30709847 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
30093493 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
30709847 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
30093493 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
30093493 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
30741634 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

VPS13A 蛋白结构

Chorein_N

Chorein_N: N-terminal region of Chorein or VPS13 (3 - 118)

SHR-BD

SHR-BD: SHR-binding domain of vacuolar-sorting associated protein 13 (2209 - 2455)

ATG_C

ATG_C: Autophagy-related protein C terminal domain (2946 - 3028)

  • 0
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  • 1000
  • 1500
  • 2000
  • 2500
  • 3000
  • 3174 a.a.
蛋白主名 其他名称

intermembrane lipid transfer protein VPS13A

bridge-like lipid transfer protein family member 5A

VPS13A 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
VPS13A Q96RL7 NCK1 Homo sapiens P16333 17474147
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
Choreoacanthocytosis

Chorea-Acanthocytosis

CHAC

Acanthocytosis With Neurologic Disorder

Levine-Critchley Syndrome

Choreaacanthocytosis

Chorea Acanthocytosis

Neuroacanthocytosis

Levine-Critchley Syndrome, Formerly

Neuroacanthocytosis, Formerly

Choreo-Acanthocytosis

Acanthocytosis Chorea

Chorea Acanthocytosis Syndrome

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Curly Hair-Acral Keratoderma-Caries Syndrome

Chacs

Chac Syndrome

Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome

MLS

X-Linked Mcleod Syndrome

Mcleod Phenotype

Neuroacanthocytosis, Mcleod Type

Mcleod Syndrome With Or Without Chronic Granulomatous Disease

MCLDS

Mcleod Type Neuroacanthocytosis

Mcleod Syndrome With Chronic Granulomatous Disease

Neuroacanthocytosis Mcleod Type

Blood Group Deletion Syndrome

Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia

Oro-Facial Dyskinesia

Dyskinesias

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma

Huntington Disease-Like 1

HDL1

Huntington-Like Neurodegenerative Disorder 1

Hln1

Huntington'S Disease-Like 1

Early-Onset Prion Disease With Prominent Psychiatric Features

Huntington-Like Neurodegenerative Disorder, Autosomal Dominant

Prion Disease, Early-Onset, With Prominent Psychiatric Features

Autosomal Dominant Huntington-Like Neurodegenerative Disorder

Huntington Disease-Like, Type 1

Choreatic Disease

Chorea

Hereditary Chorea

Oromandibular Dystonia
Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration

Pkan

NBIA1

Hallervorden-Spatz Disease

Hallervorden-Spatz Syndrome

Pigmentary Pallidal Degeneration

Neuroaxonal Dystrophy, Late Infantile

Neurodegeneration With Brain Iron Accumulation Type 1

Classic Pantothenate Kinase-Associated Neurodegeneration

Pkan Neuroaxonal Dystrophy, Juvenile-Onset

Brain Iron Accumulation Type I Syndrome

Nbia

Neurodegeneration With Brain Iron Accumulation

Nbia1, Classic Form

Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form

Pkan, Classic Form

Atypical Pantothenate Kinase-Associated Neurodegeneration

Nbia1, Atypical Form

Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form

Pkan, Atypical Form

Hss

Pkan Neuroaxonal Dystrophy Juvenile-Onset

Neurodegeneration, With Brain Iron Accumulation, Type 1

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Bruxism

Sleep Bruxism

Sleep-Related Bruxism

Bruxism - Teeth Grinding

Grinding Teeth

Sleep Related Bruxism

Teeth Grinding

Sleep Related Teeth Grinding

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

Movement Disease

Movement Disorders

Movement Disorder

Spastic Ataxia

Spax

Ataxia, Spastic

Myopathy

Muscular Diseases

Myopathies

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Canis familiaris VPS13A VGNC VGNC:48274
Felis catus VPS13A VGNC VGNC:66954
Rattus norvegicus VPS13A RGD RGD:1311340
Mus musculus VPS13A MGD MGI:2444304
Macaca mulatta VPS13A VGNC VGNC:79180