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

SLC25A29 - solute carrier family 25 member 29 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CACL; ORNT3; C14orf69

Gene ID: 123096 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
NOT enables acyl carnitine transmembrane transporter activity IDA
IDA: Inferred from direct assay
24652292 GOA
enables basic amino acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
19287344 GOA
enables high-affinity L-arginine transmembrane transporter activity IDA
IDA: Inferred from direct assay
24652292 GOA
enables high-affinity lysine transmembrane transporter activity IDA
IDA: Inferred from direct assay
24652292 GOA
Biological Process GO Annotation Evidence Reference Source
involved in L-arginine transmembrane transport IDA
IDA: Inferred from direct assay
24652292 GOA
involved in L-histidine transmembrane transport IDA
IDA: Inferred from direct assay
24652292 GOA
involved in L-lysine transmembrane transport IDA
IDA: Inferred from direct assay
24652292 GOA
NOT involved in acyl carnitine transmembrane transport IDA
IDA: Inferred from direct assay
24652292 GOA
NOT involved in carnitine transport IDA
IDA: Inferred from direct assay
24652292 GOA
involved in mitochondrial L-ornithine transmembrane transport IMP
IMP: Inferred from mutant phenotype
19287344 GOA
involved in ornithine transport IDA
IDA: Inferred from direct assay
24652292 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
19287344 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A29 Protein Structure

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.
Protein Preferred Names Protein Names

mitochondrial basic amino acids transporter

carnitine-acylcarnitine translocase like

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13110 SLC25A29 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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