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Aliases for SLC25A29 Gene

Aliases for SLC25A29 Gene

  • Solute Carrier Family 25 Member 29 2 3 4
  • Solute Carrier Family 25 (Mitochondrial Carnitine/Acylcarnitine Carrier), Member 29 2 3 5
  • Mitochondrial Carnitine/Acylcarnitine Carrier Protein CACL 3 4
  • Carnitine/Acylcarnitine Translocase-Like 3 4
  • Mitochondrial Ornithine Transporter 3 3 4
  • Solute Carrier Family 25, Member 29 2 3
  • C14orf69 3 4
  • ORNT3 3 4
  • Carnitine-Acylcarnitine Translocase Like 3
  • Chromosome 14 Open Reading Frame 69 2
  • CACT-Like 4
  • CACL 3

External Ids for SLC25A29 Gene

Previous HGNC Symbols for SLC25A29 Gene

  • C14orf69

Previous GeneCards Identifiers for SLC25A29 Gene

  • GC14M098749
  • GC14M098750
  • GC14M099827
  • GC14M100759
  • GC14M080938

Summaries for SLC25A29 Gene

Entrez Gene Summary for SLC25A29 Gene

  • 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]

GeneCards Summary for SLC25A29 Gene

SLC25A29 (Solute Carrier Family 25 Member 29) is a Protein Coding gene. Diseases associated with SLC25A29 include Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome. GO annotations related to this gene include acyl carnitine transmembrane transporter activity. An important paralog of this gene is SLC25A20.

UniProtKB/Swiss-Prot for SLC25A29 Gene

  • Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A29 Gene

Genomics for SLC25A29 Gene

Regulatory Elements for SLC25A29 Gene

Enhancers for SLC25A29 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC25A29 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A29 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC25A29 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC25A29 Gene

100,279,177 bp from pter
100,306,547 bp from pter
27,371 bases
Minus strand

Genomic View for SLC25A29 Gene

Genes around SLC25A29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A29 Gene

Proteins for SLC25A29 Gene

  • Protein details for SLC25A29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mitochondrial basic amino acids transporter
    Protein Accession:
    Secondary Accessions:
    • A3KMR5
    • Q541V0

    Protein attributes for SLC25A29 Gene

    303 amino acids
    Molecular mass:
    32062 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAD62317.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC25A29 Gene


neXtProt entry for SLC25A29 Gene

Proteomics data for SLC25A29 Gene at MOPED

Post-translational modifications for SLC25A29 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SLC25A29 Gene

Domains & Families for SLC25A29 Gene

Gene Families for SLC25A29 Gene

Protein Domains for SLC25A29 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A29: view

Function for SLC25A29 Gene

Molecular function for SLC25A29 Gene

UniProtKB/Swiss-Prot Function:
Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms.
genes like me logo Genes that share phenotypes with SLC25A29: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A29

CRISPR Products

miRNA for SLC25A29 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A29 Gene

Localization for SLC25A29 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A29 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for SLC25A29 Gene COMPARTMENTS Subcellular localization image for SLC25A29 gene
Compartment Confidence
mitochondrion 4
extracellular 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SLC25A29 Gene

Pathways & Interactions for SLC25A29 Gene

SuperPathways for SLC25A29 Gene

No Data Available

Interacting Proteins for SLC25A29 Gene

Gene Ontology (GO) - Biological Process for SLC25A29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IBA --
genes like me logo Genes that share ontologies with SLC25A29: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A29 Gene

Drugs & Compounds for SLC25A29 Gene

(2) Drugs for SLC25A29 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Carnitine Approved Pharma Target 0
genes like me logo Genes that share compounds with SLC25A29: view

Transcripts for SLC25A29 Gene

Unigene Clusters for SLC25A29 Gene

Solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A29 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e · 11f
SP1: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - -
SP5: -
SP6: - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - -
SP10: -

Relevant External Links for SLC25A29 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC25A29 Gene

mRNA expression in normal human tissues for SLC25A29 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A29 Gene

This gene is overexpressed in Thyroid (x10.0).

Protein differential expression in normal tissues from HIPED for SLC25A29 Gene

This gene is overexpressed in Breast (35.1), Bone (15.0), and Adrenal (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A29 Gene

SOURCE GeneReport for Unigene cluster for SLC25A29 Gene Hs.578109

genes like me logo Genes that share expression patterns with SLC25A29: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SLC25A29 Gene

Orthologs for SLC25A29 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A29 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SLC25A29 35
  • 90.38 (n)
  • 92.62 (a)
SLC25A29 36
  • 92 (a)
(Canis familiaris)
Mammalia SLC25A29 35
  • 89.67 (n)
  • 89.3 (a)
SLC25A29 36
  • 79 (a)
(Mus musculus)
Mammalia Slc25a29 35
  • 83.8 (n)
  • 90.56 (a)
Slc25a29 16
Slc25a29 36
  • 89 (a)
(Pan troglodytes)
Mammalia SLC25A29 35
  • 99.23 (n)
  • 99.34 (a)
SLC25A29 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Slc25a29 35
  • 84.27 (n)
  • 90.56 (a)
(Monodelphis domestica)
Mammalia SLC25A29 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia SLC25A29 36
  • 76 (a)
(Gallus gallus)
Aves SLC25A29 35
  • 70.12 (n)
  • 78.21 (a)
SLC25A29 36
  • 75 (a)
(Anolis carolinensis)
Reptilia SLC25A29 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a29 35
  • 68.08 (n)
  • 78.45 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16277 35
(Danio rerio)
Actinopterygii slc25a29 35
  • 71.6 (n)
  • 75 (a)
slc25a29 36
  • 71 (a)
SLC25A29 (2 of 2) 36
  • 70 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7448 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009128 35
  • 59.7 (n)
  • 54.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4995 35
  • 54.84 (n)
  • 50.57 (a)
CG4995 36
  • 34 (a)
(Caenorhabditis elegans)
Secernentea C54G10.4 35
  • 51.21 (n)
  • 50.19 (a)
C54G10.4 36
  • 36 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17864g 35
  • 45.42 (n)
  • 38.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC1 36
  • 32 (a)
YMC2 36
  • 30 (a)
YMC1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons BAC2 35
  • 47.51 (n)
  • 39.18 (a)
(Oryza sativa)
Liliopsida Os01g0225000 35
  • 55.35 (n)
  • 43.66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
Species with no ortholog for SLC25A29:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A29 Gene

Gene Tree for SLC25A29 (if available)
Gene Tree for SLC25A29 (if available)

Paralogs for SLC25A29 Gene

Paralogs for SLC25A29 Gene

genes like me logo Genes that share paralogs with SLC25A29: view

Variants for SLC25A29 Gene

Sequence variations from dbSNP and Humsavar for SLC25A29 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs9201 -- 100,291,314(-) GCATT(C/T)TCAGT intron-variant, utr-variant-3-prime
rs9291 -- 100,282,507(-) AAACA(G/T)AATTT intron-variant
rs10830 -- 100,282,587(-) CACTT(A/C)AGAAA intron-variant
rs11427 -- 100,282,657(-) TACTA(A/C/T)ATTTC intron-variant
rs14260 -- 100,291,347(+) GAGCA(A/G)AGGGA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC25A29 Gene

Variant ID Type Subtype PubMed ID
nsv902226 CNV Loss 21882294
nsv832875 CNV Loss 17160897
dgv1979n71 CNV Loss 21882294
nsv902229 CNV Loss 21882294
nsv902230 CNV Loss 21882294

Variation tolerance for SLC25A29 Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.53% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SLC25A29 Gene

Disorders for SLC25A29 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC25A29 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
  • ornithine translocase deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC25A29

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC25A29: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A29 Gene

Publications for SLC25A29 Gene

  1. The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids. (PMID: 24652292) Porcelli V. … Palmieri F. (J. Biol. Chem. 2014) 3 4 67
  2. A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting. (PMID: 12882971) Sekoguchi E. … Matsuura A. (J. Biol. Chem. 2003) 3 25 26
  3. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F. (Mol. Aspects Med. 2013) 3
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  5. The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (PMID: 19287344) Camacho J.A. … Rioseco-Camacho N. (Pediatr. Res. 2009) 3

Products for SLC25A29 Gene

Sources for SLC25A29 Gene