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Aliases for SLC25A29 Gene

Aliases for SLC25A29 Gene

  • Solute Carrier Family 25 Member 29 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carnitine/Acylcarnitine Carrier), Member 29 2 3
  • Mitochondrial Carnitine/Acylcarnitine Carrier Protein CACL 3 4
  • Mitochondrial Ornithine Transporter 3 3 4
  • C14orf69 3 4
  • ORNT3 3 4
  • Mitochondrial Basic Amino Acids Transporter 3
  • Carnitine-Acylcarnitine Translocase Like 3
  • Carnitine/Acylcarnitine Translocase-Like 4
  • Chromosome 14 Open Reading Frame 69 2
  • Solute Carrier Family 25, Member 29 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 SLC25A45.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F100295 1.3 Ensembl ENCODE 18.6 +9.2 9231 3.0 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF121 ZNF766 YY2 ZHX2 REST SLC25A29 EVL ENSG00000259052
GH14F100304 1.1 ENCODE 20.2 +0.4 441 3.6 HDGF PKNOX1 ARNT CREB3L1 SIN3A ZNF766 ZNF143 KLF13 SP3 SP5 SLC25A29 MEG3 ENSG00000259052
GH14F100371 1.2 ENCODE 15.4 -68.4 -68358 6.5 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 WARS WDR25 SLC25A29 MIR6764 GC14P100382
GH14F100302 0.8 ENCODE 18.2 +3.7 3699 0.2 TBP KLF1 PKNOX1 KLF17 RAD21 RFX5 GATA3 CTBP1 RCOR1 TCF7L2 SLC25A29 ENSG00000259052
GH14F100296 0.6 ENCODE 19.2 +11.2 11163 0.2 NFRKB BHLHE40 GABPA POLR2H FOSL1 FOS SP7 NFE2L2 SLC25A29 SLC25A47 WARS WDR25 ENSG00000259052
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000423758 247 3001 HDGF PKNOX1 ARNT CREB3L1 SIN3A ZNF766 ZNF143 KLF13 SP3 SP5

Genomic Location for SLC25A29 Gene

Chromosome:
14
Start:
100,279,177 bp from pter
End:
100,306,547 bp from pter
Size:
27,371 bases
Orientation:
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:
    Q8N8R3-MCATL_HUMAN
    Recommended name:
    Mitochondrial basic amino acids transporter
    Protein Accession:
    Q8N8R3
    Secondary Accessions:
    • A3KMR5
    • Q541V0

    Protein attributes for SLC25A29 Gene

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

    Alternative splice isoforms for SLC25A29 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A29 Gene

Post-translational modifications for SLC25A29 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Q8N8R3

UniProtKB/Swiss-Prot:

MCATL_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • 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.

Gene Ontology (GO) - Molecular Function for SLC25A29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015227 acyl carnitine transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A29: view
genes like me logo Genes that share phenotypes with SLC25A29: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A29

miRNA for SLC25A29 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A29 gene
Compartment Confidence
mitochondrion 4
extracellular 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC25A29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A29: view

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:0006810 transport IEA --
GO:0006844 acyl carnitine transport IEA --
GO:0055085 transmembrane transport IEA --
GO:1902616 acyl carnitine transmembrane transport IEA --
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
PROPIONYL-L-CARNITINE Pharma 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:

Inhibitory RNA Products

Flow Cytometry Products

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: - - - - - - - - - -
SP2:
SP3: - - - - - - - - - - -
SP4: - -
SP5: -
SP6: - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - -
SP9:
SP10: -
SP11:

Relevant External Links for SLC25A29 Gene

GeneLoc Exon Structure for
SLC25A29
ECgene alternative splicing isoforms for
SLC25A29

Expression for SLC25A29 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SLC25A29 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC25A29 Gene:

SLC25A29

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia SLC25A29 34 35
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia SLC25A29 34 35
  • 90.38 (n)
dog
(Canis familiaris)
Mammalia SLC25A29 34 35
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a29 34
  • 84.27 (n)
mouse
(Mus musculus)
Mammalia Slc25a29 34 16 35
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A29 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A29 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A29 34 35
  • 70.12 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A29 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a29 34
  • 68.08 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16277 34
zebrafish
(Danio rerio)
Actinopterygii slc25a29 34 35
  • 71.6 (n)
SLC25A29 (2 of 2) 35
  • 70 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7448 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009128 34
  • 59.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4995 34 35
  • 54.84 (n)
worm
(Caenorhabditis elegans)
Secernentea C54G10.4 34 35
  • 51.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17864g 34
  • 45.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC1 35 37
  • 32 (a)
ManyToMany
YMC2 35
  • 30 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BAC2 34
  • 47.51 (n)
rice
(Oryza sativa)
Liliopsida Os01g0225000 34
  • 55.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
Species where no ortholog for SLC25A29 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for SLC25A29 (if available)
TreeFam:
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
rs10134767 -- 100,297,617(+) GCAGC(G/T)CGTGG intron-variant, utr-variant-5-prime
rs10151514 -- 100,280,865(+) ACGTG(C/T)CCCAG intron-variant
rs1042890 -- 100,281,855(+) CCTCT(A/G)ACCCA intron-variant
rs1042892 -- 100,282,004(+) CGTTA(C/T)CACCC intron-variant
rs1042897 -- 100,282,286(+) AGACA(A/C)CCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3635502 CNV gain 21293372
nsv565781 CNV loss 21841781
nsv832875 CNV loss 17160897

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)

Relevant External Links for SLC25A29 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A29

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC25A29

Genetic Association Database (GAD)
SLC25A29
Human Genome Epidemiology (HuGE) Navigator
SLC25A29
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A29
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 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. 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 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting. (PMID: 12882971) Sekoguchi E. … Matsuura A. (J. Biol. Chem. 2003) 3 25 64

Products for SLC25A29 Gene

Sources for SLC25A29 Gene

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