1. Gene
  2. SLC13A3 - solute carrier family 13 member 3 Gene

SLC13A3 - solute carrier family 13 member 3 Gene

中文名称:溶质载体家族 13 成员 3

种属: Homo sapiens

同用名: NaC3; NADC3; SDCT2; ARLIAK

基因 ID: 64849 | 基因类型: protein coding

关于 SLC13A3

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,557,828-46,684,485 (from NCBI)

This gene has 11 transcripts (splice variants), 216 orthologues, 5 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 195.8) and placenta (RPKM 14.9).

功能概要

哺乳动物二羧酸钠协同转运蛋白转运琥珀酸盐和其他克雷布斯循环中间体。它们根据底物亲和力分为两类:低亲和力和高亲和力。低亲和力和高亲和力转运蛋白在肾脏处理柠檬酸盐中都起着重要作用。该基因编码的蛋白质代表高亲和力形式。已经为该基因发现了编码不同亚型的可变剪接转录物变体,尽管其中一些的全长性质尚未被表征。[RefSeq 提供,2008 年 7 月]

Mammalian sodium-dicarboxylate cotransporters transport succinate and Other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]

SLC13A3 基因产物(5)

mRNA Protein Name
NM_001011554.3 NP_001011554.1 Na(+)/dicarboxylate cotransporter 3 isoform b
NM_001193339.2 NP_001180268.1 Na(+)/dicarboxylate cotransporter 3 isoform c precursor
NM_001193340.2 NP_001180269.1 Na(+)/dicarboxylate cotransporter 3 isoform d
NM_001193342.2 NP_001180271.1 Na(+)/dicarboxylate cotransporter 3 isoform e
NM_022829.6 NP_073740.2 Na(+)/dicarboxylate cotransporter 3 isoform a precursor

SLC13A3 蛋白结构

Na_sulph_symp

Na_sulph_symp: Sodium:sulfate symporter transmembrane region (10 - 572)

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  • 500
  • 602 a.a.
蛋白主名 其他名称

Na(+)/dicarboxylate cotransporter 3

Na(+)-coupled carboxylate transporter 3

SLC13A3 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
SLC13A3 Q8WWT9 CISD2 Homo sapiens Q8N5K1 32296183
种属内
SLC13A3 Q8WWT9 CISD2 Homo sapiens Q8N5K1 32296183
种属内
SLC13A3 Q8WWT9 CYB5R3 Homo sapiens P00387 32296183
种属内
SLC13A3 Q8WWT9 CYB5R3 Homo sapiens P00387 32296183
种属内
SLC13A3 Q8WWT9 RMDN3 Homo sapiens Q96TC7 32296183
种属内
SLC13A3 Q8WWT9 RMDN3 Homo sapiens Q96TC7 32296183
种属内
SLC13A3 Q8WWT9 RMDN3 Homo sapiens Q96TC7 32296183
种属内
SLC13A3 Q8WWT9 ARL13B Homo sapiens Q3SXY8 32296183
种属内
SLC13A3 Q8WWT9 ARL13B Homo sapiens Q3SXY8 32296183
种属内
SLC13A3 Q8WWT9 GPX8 Homo sapiens Q8TED1 32296183
种属内
SLC13A3 Q8WWT9 GPX8 Homo sapiens Q8TED1 32296183
种属内
SLC13A3 Q8WWT9 LEUTX Homo sapiens A8MZ59 32296183
种属内
SLC13A3 Q8WWT9 LEUTX Homo sapiens A8MZ59 32296183
种属内
SLC13A3 Q8WWT9 FAM209A Homo sapiens Q5JX71 32296183
种属内
SLC13A3 Q8WWT9 FAM209A Homo sapiens Q5JX71 32296183
种属内
SLC13A3 Q8WWT9 CREB3L1 Homo sapiens Q96BA8 32296183
种属内
SLC13A3 Q8WWT9 CREB3L1 Homo sapiens Q96BA8 32296183
种属内
SLC13A3 Q8WWT9 CREB3L1 Homo sapiens Q96BA8 32296183
种属内
SLC13A3 Q8WWT9 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
SLC13A3 Q8WWT9 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
SLC13A3 Q8WWT9 ERGIC3 Homo sapiens Q9Y282 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
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate

ARLIAK

Acute Reversible Leukoencephalopathy With Increased Urinary Alpha-Ketoglutarate

Acute Reversible Leukoencephalopathy Due To Slc13a3 Deficiency

Acute Reversible Leukoencephalopathy Due To Sodium-Dependent Dicarboxylate Transporter Deficiency

Axenfeld-Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome Type 1

RIEG1

Rieg

Rgs

Rieger Syndrome Type 1

Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome 1

Iridogoniodysgenesis With Somatic Anomalies

Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal

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

N-Acetylglutamate Synthase Deficiency

Nags Deficiency

N-Acetylglutamate Synthetase Deficiency

Hyperammonemia, Type Iii

Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency

NAGSD

Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency

N-Acetyl Glutamate Synthetase Deficiency

Nag Synthetase Deficiency

Deficiency, N-Acetylglutamate Synthase

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

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

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

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

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
Canis familiaris SLC13A3 VGNC VGNC:46229
Macaca mulatta SLC13A3 VGNC VGNC:77476
Bos taurus SLC13A3 VGNC VGNC:34675
Felis catus SLC13A3 VGNC VGNC:65198
Rattus norvegicus SLC13A3 RGD RGD:628786
Mus musculus SLC13A3 MGD MGI:2149635