SLC25A29
Mitochondrial basic amino acids transporter
Also known as: C14orf69, FLJ38975, S2529_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N8R3
- Gene
- SLC25A29
- Ensembl
- ENSG00000197119
- Chromosome
- 14
- Canonical length
- 303 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
303 residues, UniProt reviewed canonical sequence.
>Q8N8R3|SLC25A29
1 MALDFLAGCA GGVAGVLVGH PFDTVKVRLQ VQSVEKPQYR GTLHCFKSII KQESVLGLYK
61 GLGSPLMGLT FINALVFGVQ GNTLRALGHD SPLNQFLAGA AAGAIQCVIC CPMELAKTRL
121 QLQDAGPART YKGSLDCLAQ IYGHEGLRGV NRGMVSTLLR ETPSFGVYFL TYDALTRALG
181 CEPGDRLLVP KLLLAGGTSG IVSWLSTYPV DVVKSRLQAD GLRGAPRYRG ILDCVHQSYR
241 AEGWRVFTRG LASTLLRAFP VNAATFATVT VVLTYARGEE AGPEGEAVPA APAGPALAQP
301 SSLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC25A29 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 407 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 407 nTPM
- spinal cord: 152 nTPM
- kidney: 125 nTPM
- choroid plexus: 113 nTPM
- fallopian tube: 74 nTPM
- midbrain: 67 nTPM
Single-cell type
- renal collecting duct principal cells: 283 nCPM
- renal connecting tubule cells: 235 nCPM
- breast lactating cells: 192 nCPM
- endometrial glandular cells: 146 nCPM
- renal collecting duct intercalated cells: 135 nCPM
- epididymal efferent duct absorptive cells: 130 nCPM
Immune cell
- eosinophil: 2.1 nTPM
- basophil: 1.5 nTPM
- myeloid DC: 1.2 nTPM
- neutrophil: 1.2 nTPM
- classical monocyte: 1.1 nTPM
- gdT-cell: 0.9 nTPM
Brain region
- white matter: 118 nTPM
- medulla oblongata: 115 nTPM
- pons: 88 nTPM
- choroid plexus: 73 nTPM
- cerebellum: 71 nTPM
- spinal cord: 67 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.16
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.77
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- amino acid transport
- L-arginine transmembrane transport
- L-histidine transmembrane transport
- L-lysine transmembrane transport
- mitochondrial L-ornithine transmembrane transport
- ornithine transport
Molecular functions
- basic amino acid transmembrane transporter activity
- high-affinity L-arginine transmembrane transporter activity
- high-affinity lysine transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC25A29 as an antibody target. Whether an autoantibody or antibody against SLC25A29 could matter depends on whether native SLC25A29 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC25A29 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC25A29 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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