2. Gene
  3. SLC25A1 - solute carrier family 25 member 1 Gene

SLC25A1 - solute carrier family 25 member 1 Gene

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

中文名称：溶质载体家族 25 成员 1

种属: Homo sapiens

同用名: CIC; CTP; SEA; CMS23; D2L2AD; SLC20A3

基因 ID: 6576 | 基因类型: protein coding

关于 SLC25A1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,175,581-19,178,736 (from NCBI)

This gene has 5 transcripts (splice variants), 273 orthologues, 49 paralogues and is associated with 5 phenotypes. Ubiquitous expression in fat (RPKM 63.8), kidney (RPKM 36.9) and 25 other tissues.

功能概要

该基因编码溶质载体蛋白的线粒体载体亚家族的成员。该家族的成员包括核编码转运蛋白，可将小代谢物转运穿过线粒体膜。这种蛋白质调节柠檬酸盐穿过线粒体内膜的运动。该基因的突变与合并的 D-2- 和 L-2-羟基戊二酸尿症有关。已在 7、11、16 和 19 号染色体上鉴定出该基因的假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 12 月]

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

SLC25A1 基因产物(3)

mRNA Protein Name
NM_001256534.2 NP_001243463.1 tricarboxylate transport protein, mitochondrial isoform b
NM_001287387.2 NP_001274316.1 tricarboxylate transport protein, mitochondrial isoform c
NM_005984.5 NP_005975.1 tricarboxylate transport protein, mitochondrial isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables citrate secondary active transmembrane transporter activity IDA
IDA: 通过直接分析推断
29031613 GOA
enables tricarboxylic acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
29031613 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial citrate transmembrane transport IDA
IDA: 通过直接分析推断
29031613 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

SLC25A1 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (25 - 114)

Mito_carr

Mito_carr: Mitochondrial carrier protein (122 - 211)

Mito_carr

Mito_carr: Mitochondrial carrier protein (219 - 306)

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

tricarboxylate transport protein, mitochondrial

citrate isocitrate carrier

关联疾病

疾病名称 别名
Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria
Myasthenic Syndrome, Congenital, 23, Presynaptic

CMS23

Myasthenic Syndrome, Congenital, Type 23, Presynaptic
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome
Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25

Dee25

Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta

Early Infantile Epileptic Encephalopathy 25

Encephalopathy, Epileptic, Early Infantile, Type 25
D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Leukorrhea

Discharge - Leukorrhea

Leukorrhea Of Vagina
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-123986 CTPI-2 Inhibitor 99.95% 否
HY-RS13089 SLC25A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC25A1 RGD RGD:3703
Canis familiaris SLC25A1 VGNC VGNC:46290
Mus musculus SLC25A1 MGD MGI:1345283
Macaca mulatta SLC25A1 VGNC VGNC:77428
Bos taurus SLC25A1 VGNC VGNC:34741
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