SLC25A29 - solute carrier family 25 member 29 Gene

Also Known as CACL; ORNT3; C14orf69

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 123096

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 References 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 References 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 References 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13110 SLC25A29 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22074 Slc25a29 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28592 Slc25a29 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others SLC25A29 NCBI