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SLC25A29 solute carrier family 25 member 29 [ Homo sapiens (human) ]

Gene ID: 123096, updated on 27-Nov-2024

Summary

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Official Symbol
SLC25A29provided by HGNC
Official Full Name
solute carrier family 25 member 29provided by HGNC
Primary source
HGNC:HGNC:20116
See related
Ensembl:ENSG00000197119 MIM:615064; AllianceGenome:HGNC:20116
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CACL; ORNT3; C14orf69
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]
Expression
Broad expression in thyroid (RPKM 41.5), prostate (RPKM 9.2) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See SLC25A29 in Genome Data Viewer
Location:
14q32.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100278567..100306444, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94512311..94539478, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100757453..100772781, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100680080-100680580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9029 Neighboring gene YY1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100684247-100684748 Neighboring gene Sharpr-MPRA regulatory region 8458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100698662-100699162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100699163-100699663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100704543-100705395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6083 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:100711928-100712136 Neighboring gene YY1 transcription factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100744670-100745650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6084 Neighboring gene microRNA 6764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100771717-100772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100779917-100780815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100784285-100784831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9037 Neighboring gene microRNA 345 Neighboring gene RNA, 7SL, cytoplasmic 523, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Elevated mitochondrial SLC25A29 in cancer modulates metabolic status by increasing mitochondria-derived nitric oxide. Zhang H, et al. Oncogene, 2018 May. PMID 29459713
  2. The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids. Porcelli V, et al. J Biol Chem, 2014 May 9. PMID 24652292, Free PMC Article
  3. A novel mitochondrial carnitine-acylcarnitine translocase induced by partial hepatectomy and fasting. Sekoguchi E, et al. J Biol Chem, 2003 Oct 3. PMID 12882971
  4. The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Camacho JA, et al. Pediatr Res, 2009 Jul. PMID 19287344
  5. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results provide evidence that aberrant elevated SLC25A29 in cancer functioned to transport more arginine into mitochondria, improved mitochondria-derived nitric oxide levels, thus modulated metabolic status to facilitate increased cancer progression.
    Title: Elevated mitochondrial SLC25A29 in cancer modulates metabolic status by increasing mitochondria-derived nitric oxide.
  2. The main physiological role of SLC25A29 is to import basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation.
    Title: The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids.
  3. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. The human and mouse SLC25A29 mitochondrial ornithine transporters (designated as ORNT3) rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
    Title: The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38975, AL157871.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables acyl carnitine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables basic amino acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables basic amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables high-affinity L-arginine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables high-affinity L-arginine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables high-affinity lysine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables high-affinity lysine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-arginine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-histidine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-lysine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in acyl carnitine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amino acid transport TAS
Traceable Author Statement
more info
  
NOT involved_in carnitine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial L-ornithine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial L-ornithine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ornithine transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial basic amino acids transporter
Names
carnitine-acylcarnitine translocase like
mitochondrial carnitine/acylcarnitine carrier protein CACL
mitochondrial ornithine transporter 3
solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039355.3 → NP_001034444.1  mitochondrial basic amino acids transporter isoform 1

    See identical proteins and their annotated locations for NP_001034444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BX247983, CF529947
    Consensus CDS
    CCDS32156.1
    UniProtKB/Swiss-Prot
    A3KMR5, Q541V0, Q8N8R3
    Related
    ENSP00000352167.3, ENST00000359232.8
    Conserved Domains (2) summary
    PTZ00169
    Location:2 → 259
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:185 → 268
    Mito_carr; Mitochondrial carrier protein

  2. NM_001291813.2 → NP_001278742.1  mitochondrial basic amino acids transporter isoform 2

    See identical proteins and their annotated locations for NP_001278742.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional exon that causes a frame-shift and results in the use of an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2-4 encode the same isoform.
    Source sequence(s)
    AK310069, BI828620, BX247983, CF529947
    UniProtKB/Swiss-Prot
    Q8N8R3
    Conserved Domains (1) summary
    pfam00153
    Location:123 → 202
    Mito_carr; Mitochondrial carrier protein

  3. NM_001291814.2 → NP_001278743.1  mitochondrial basic amino acids transporter isoform 2

    See identical proteins and their annotated locations for NP_001278743.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional exon that causes a frame-shift and results in the use of an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2-4 encode the same isoform.
    Source sequence(s)
    BX247983, CF529947, DA201175
    UniProtKB/Swiss-Prot
    Q8N8R3
    Conserved Domains (1) summary
    pfam00153
    Location:123 → 202
    Mito_carr; Mitochondrial carrier protein

  4. NM_001352820.2 → NP_001339749.1  mitochondrial basic amino acids transporter isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157871
    Conserved Domains (1) summary
    pfam00153
    Location:123 → 202
    Mito_carr; Mitochondrial carrier protein

  5. NM_001352821.2 → NP_001339750.1  mitochondrial basic amino acids transporter isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL157871
    Conserved Domains (1) summary
    pfam00153
    Location:238 → 321
    Mito_carr; Mitochondrial carrier protein

  6. NM_001352822.2 → NP_001339751.1  mitochondrial basic amino acids transporter isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157871
    Conserved Domains (1) summary
    pfam00153
    Location:123 → 202
    Mito_carr; Mitochondrial carrier protein

  7. NM_001352823.2 → NP_001339752.1  mitochondrial basic amino acids transporter isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157871
    Conserved Domains (1) summary
    pfam00153
    Location:123 → 202
    Mito_carr; Mitochondrial carrier protein

  8. NM_152333.4 → NP_689546.1  mitochondrial basic amino acids transporter isoform 2

    See identical proteins and their annotated locations for NP_689546.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon that causes a frame-shift and results in the use of an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2-4 encode the same isoform.
    Source sequence(s)
    AK096294, BX247983, CF529947
    UniProtKB/Swiss-Prot
    Q8N8R3
    Related
    ENSP00000450913.1, ENST00000554912.1
    Conserved Domains (1) summary
    pfam00153
    Location:123 → 202
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    100278567..100306444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430952.1 → XP_047286908.1  mitochondrial basic amino acids transporter isoform X5

  2. XM_006720039.5 → XP_006720102.1  mitochondrial basic amino acids transporter isoform X3

    Conserved Domains (1) summary
    pfam00153
    Location:224 → 307
    Mito_carr; Mitochondrial carrier protein

  3. XM_047430946.1 → XP_047286902.1  mitochondrial basic amino acids transporter isoform X1

  4. XM_047430949.1 → XP_047286905.1  mitochondrial basic amino acids transporter isoform X4

  5. XM_047430959.1 → XP_047286915.1  mitochondrial basic amino acids transporter isoform X5

  6. XM_047430948.1 → XP_047286904.1  mitochondrial basic amino acids transporter isoform X2

  7. XM_047430947.1 → XP_047286903.1  mitochondrial basic amino acids transporter isoform X2

  8. XM_047430951.1 → XP_047286907.1  mitochondrial basic amino acids transporter isoform X5

  9. XM_047430962.1 → XP_047286918.1  mitochondrial basic amino acids transporter isoform X5

  10. XM_047430956.1 → XP_047286912.1  mitochondrial basic amino acids transporter isoform X5

  11. XM_047430950.1 → XP_047286906.1  mitochondrial basic amino acids transporter isoform X5

  12. XM_047430961.1 → XP_047286917.1  mitochondrial basic amino acids transporter isoform X5

  13. XM_047430958.1 → XP_047286914.1  mitochondrial basic amino acids transporter isoform X5

    Related
    ENSP00000452446.1, ENST00000556505.5

  14. XM_047430954.1 → XP_047286910.1  mitochondrial basic amino acids transporter isoform X5

  15. XM_047430960.1 → XP_047286916.1  mitochondrial basic amino acids transporter isoform X5

  16. XM_047430957.1 → XP_047286913.1  mitochondrial basic amino acids transporter isoform X5

  17. XM_047430953.1 → XP_047286909.1  mitochondrial basic amino acids transporter isoform X5

RNA

  1. XR_007063984.1 RNA Sequence

  2. XR_007063981.1 RNA Sequence

  3. XR_007063983.1 RNA Sequence

  4. XR_007063982.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    94512311..94539478 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375418.1 → XP_054231393.1  mitochondrial basic amino acids transporter isoform X5

  2. XM_054375413.1 → XP_054231388.1  mitochondrial basic amino acids transporter isoform X3

  3. XM_054375415.1 → XP_054231390.1  mitochondrial basic amino acids transporter isoform X5

  4. XM_054375410.1 → XP_054231385.1  mitochondrial basic amino acids transporter isoform X1

  5. XM_054375414.1 → XP_054231389.1  mitochondrial basic amino acids transporter isoform X4

  6. XM_054375424.1 → XP_054231399.1  mitochondrial basic amino acids transporter isoform X5

  7. XM_054375411.1 → XP_054231386.1  mitochondrial basic amino acids transporter isoform X2

  8. XM_054375417.1 → XP_054231392.1  mitochondrial basic amino acids transporter isoform X5

  9. XM_054375426.1 → XP_054231401.1  mitochondrial basic amino acids transporter isoform X5

  10. XM_054375423.1 → XP_054231398.1  mitochondrial basic amino acids transporter isoform X5

  11. XM_054375425.1 → XP_054231400.1  mitochondrial basic amino acids transporter isoform X5

  12. XM_054375422.1 → XP_054231397.1  mitochondrial basic amino acids transporter isoform X5

  13. XM_054375420.1 → XP_054231395.1  mitochondrial basic amino acids transporter isoform X5

  14. XM_054375419.1 → XP_054231394.1  mitochondrial basic amino acids transporter isoform X5

  15. XM_054375412.1 → XP_054231387.1  mitochondrial basic amino acids transporter isoform X2

  16. XM_054375427.1 → XP_054231402.1  mitochondrial basic amino acids transporter isoform X5

  17. XM_054375421.1 → XP_054231396.1  mitochondrial basic amino acids transporter isoform X5

  18. XM_054375416.1 → XP_054231391.1  mitochondrial basic amino acids transporter isoform X5

RNA

  1. XR_008488822.1 RNA Sequence

  2. XR_008488819.1 RNA Sequence

  3. XR_008488821.1 RNA Sequence

  4. XR_008488820.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N8R3.2 GenPept UniProtKB/Swiss-Prot:Q8N8R3

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