1. Gene
  2. SLC25A12 - solute carrier family 25 member 12 Gene

SLC25A12 - solute carrier family 25 member 12 Gene

中文名称:溶质载体家族 25 成员 12

种属: Homo sapiens

同用名: AGC1; DEE39; ARALAR; EIEE39

基因 ID: 8604 | 基因类型: protein coding

关于 SLC25A12

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,783,405-171,894,244 (from NCBI)

This gene has 10 transcripts (splice variants), 268 orthologues, 49 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 23.7), brain (RPKM 13.5) and 23 other tissues.

功能概要

该基因编码钙结合线粒体载体蛋白。编码的蛋白质定位于线粒体,并参与线粒体内膜天冬氨酸与谷氨酸的交换。该基因的多态性可能与自闭症有关,该基因的突变也可能是全脑髓鞘发育不良的原因。已观察到该基因的可变剪接转录物变体。[RefSeq 提供,2012 年 4 月]

This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

SLC25A12 基因产物(1)

mRNA Protein Name
NM_003705.5 NP_003696.2 electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial
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 3-sulfino-L-alanine: proton, glutamate antiporter activity IDA
IDA: 通过直接分析推断
11566871 GOA
enables aspartate:glutamate, proton antiporter activity IDA
IDA: 通过直接分析推断
11566871 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
9722566 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
25410934 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-glutamate transmembrane transport IDA
IDA: 通过直接分析推断
11566871 GOA
involved in aspartate transmembrane transport IDA
IDA: 通过直接分析推断
11566871 GOA
involved in malate-aspartate shuttle IDA
IDA: 通过直接分析推断
11566871 GOA
involved in response to calcium ion IDA
IDA: 通过直接分析推断
11566871 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
11566871 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
9722566 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

SLC25A12 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (92 - 116)

Mito_carr

Mito_carr: Mitochondrial carrier protein (329 - 419)

Mito_carr

Mito_carr: Mitochondrial carrier protein (424 - 512)

Mito_carr

Mito_carr: Mitochondrial carrier protein (519 - 606)

  • 0
  • 200
  • 400
  • 600
  • 678 a.a.
蛋白主名 其他名称

electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial

calcium-binding mitochondrial carrier protein Aralar1

araceli hiperlarga

SLC25A12 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
SLC25A12 O75746 MAVS Homo sapiens Q7Z434 31767682
种属内
SLC25A12 O75746 MAVS Homo sapiens Q7Z434 31767682
种属间: 跨种属相互作用 种属内: 同种属相互作用

SLC25A12 抗体

目录号 产品名 应用 反应物种
HY-P82240 SLC25A12 Antibody (YA1985) WB, IP Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency

CTLN2

Citrullinemia Type Ii

Adult-Onset Citrullinemia Type 2

Adult-Onset Type Ii Citrullinemia

Citrullinemia, Adult-Onset Type Ii

Adult-Onset Citrin Deficiency

Adult-Onset Citrullinemia Type Ii

Citrullinemia Type 2

Citrullinemia 2

Citrullinemia, Type Ii

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Citrullinemia, Classic

Citrullinemia

Classic Citrullinemia

Argininosuccinate Synthetase Deficiency

Ass Deficiency

Citrullinemia Type I

CTLN1

Citrullinuria

Citrullinemia, Type I

Argininosuccinic Acid Synthetase Deficiency

Ctnl1

Citrullinemia 1

Deficiency Of Citrulline-Aspartate Ligase

Cit

Argininosuccinate Synthase Deficiency

Argininosuccinic Acid Synthase Deficiency

Citrullinemia Type 1

Citrullinemia Classical

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Urea Cycle Disorder

Urea Cycle Disorders

Urea Cycle Disorders, Inborn

Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Disorder Of Urea Cycle Metabolism

Urea Cycle Defect

Ucd

Disorder Of The Urea Cycle Metabolism

Disorder Of Urea Cycle

Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Ammonia Metabolic Disorder

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Foxp1 Syndrome

Mental Retardation With Language Impairment And With Or Without Autistic Features

Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

Intellectual Disability With Language Impairment And With Or Without Autistic Features

Complex Partial Epilepsy

Epilepsy, Complex Partial

Complex Partial Epileptic Seizure

Epilepsy, Psychomotor

Psychomotor Epilepsy

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Felis catus SLC25A12 VGNC VGNC:65254
Macaca mulatta SLC25A12 VGNC VGNC:77430
Canis familiaris SLC25A12 VGNC VGNC:46292
Rattus norvegicus SLC25A12 RGD RGD:1305181
Mus musculus SLC25A12 MGD MGI:1926080
Bos taurus SLC25A12 VGNC VGNC:34743