2. Gene
  3. SLC25A29 - solute carrier family 25 member 29 Gene

SLC25A29 - solute carrier family 25 member 29 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 29

种属: Homo sapiens

同用名: CACL; ORNT3; C14orf69

基因 ID: 123096 | 基因类型: protein coding

关于 SLC25A29

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,278,567-100,306,444 (from NCBI)

This gene has 20 transcripts (splice variants), 269 orthologues and 49 paralogues. Broad expression in thyroid (RPKM 41.5), prostate (RPKM 9.2) and 23 other tissues.

功能概要

该基因编码一种核编码的线粒体蛋白，该蛋白是溶质载体家族 25 (SLC25) 线粒体转运蛋白大家族的成员。这个超家族的成员参与了许多代谢途径和细胞功能。该基因产物先前被报道为线粒体肉碱-酰基肉碱样 (CACL) 转位酶 (PMID:128829710) 或鸟氨酸转运蛋白 (命名为 ORNT3，PMID:19287344) ，然而，最近的一项研究将这种蛋白质的主要作用描述为一种碱性氨基酸的线粒体转运体，偏爱精氨酸和赖氨酸 (PMID:24652292) 。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2014 年 4 月]

This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic Amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

SLC25A29 基因产物(8)

mRNA Protein Name
NM_001039355.3 NP_001034444.1 mitochondrial basic amino acids transporter isoform 1
NM_001291813.2 NP_001278742.1 mitochondrial basic amino acids transporter isoform 2
NM_001291814.2 NP_001278743.1 mitochondrial basic amino acids transporter isoform 2
NM_001352820.2 NP_001339749.1 mitochondrial basic amino acids transporter isoform 2
NM_001352821.2 NP_001339750.1 mitochondrial basic amino acids transporter isoform 3
NM_001352822.2 NP_001339751.1 mitochondrial basic amino acids transporter isoform 2
NM_001352823.2 NP_001339752.1 mitochondrial basic amino acids transporter isoform 2
NM_152333.4 NP_689546.1 mitochondrial basic amino acids transporter isoform 2

SLC25A29 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (4 - 87)

Mito_carr

Mito_carr: Mitochondrial carrier protein (90 - 179)

Mito_carr

Mito_carr: Mitochondrial carrier protein (190 - 273)

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

mitochondrial basic amino acids transporter

carnitine-acylcarnitine translocase like

关联疾病

疾病名称 别名
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hhh Syndrome

Ornithine Translocase Deficiency

Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome

HHHS

Hhh

Triple H Syndrome

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Ornithine Translocase Deficiency Syndrome

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

Ornt1 Deficiency

Ornithine Carrier Deficiency

Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13110 SLC25A29 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SLC25A29 MGD MGI:2444911
Rattus norvegicus SLC25A29 RGD RGD:1308104
Bos taurus SLC25A29 VGNC VGNC:34755
Macaca mulatta SLC25A29 VGNC VGNC:77521
Felis catus SLC25A29 VGNC VGNC:80843
Canis familiaris SLC25A29 VGNC VGNC:51687
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