SLC13A5
Na(+)/citrate cotransporter
Also known as: INDY, NACT, S13A5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86YT5
- Gene
- SLC13A5
- Ensembl
- ENSG00000141485
- Chromosome
- 17
- Canonical length
- 568 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Plasma membrane
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Canonical amino-acid sequenceUniProt
568 residues, UniProt reviewed canonical sequence.
>Q86YT5|SLC13A5
1 MASALSYVSK FKSFVILFVT PLLLLPLVIL MPAKFVRCAY VIILMAIYWC TEVIPLAVTS
61 LMPVLLFPLF QILDSRQVCV QYMKDTNMLF LGGLIVAVAV ERWNLHKRIA LRTLLWVGAK
121 PARLMLGFMG VTALLSMWIS NTATTAMMVP IVEAILQQME ATSAATEAGL ELVDKGKAKE
181 LPGSQVIFEG PTLGQQEDQE RKRLCKAMTL CICYAASIGG TATLTGTGPN VVLLGQMNEL
241 FPDSKDLVNF ASWFAFAFPN MLVMLLFAWL WLQFVYMRFN FKKSWGCGLE SKKNEKAALK
301 VLQEEYRKLG PLSFAEINVL ICFFLLVILW FSRDPGFMPG WLTVAWVEGE TKYVSDATVA
361 IFVATLLFIV PSQKPKFNFR SQTEEERKTP FYPPPLLDWK VTQEKVPWGI VLLLGGGFAL
421 AKGSEASGLS VWMGKQMEPL HAVPPAAITL ILSLLVAVFT ECTSNVATTT LFLPIFASMS
481 RSIGLNPLYI MLPCTLSASF AFMLPVATPP NAIVFTYGHL KVADMVKTGV IMNIIGVFCV
541 FLAVNTWGRA IFDLDHFPDW ANVTHIETLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC13A5 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 11
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 394 nTPM
Expression across tissuesHPA
Tissue
- liver: 394 nTPM
- salivary gland: 36 nTPM
- basal ganglia: 8.4 nTPM
- cerebral cortex: 7.7 nTPM
- amygdala: 4.3 nTPM
- midbrain: 3.5 nTPM
Single-cell type
- hepatocytes: 440 nCPM
- salivary acinar cells: 242 nCPM
- salivary myoepithelial cells: 98 nCPM
- astrocytes: 43 nCPM
- bergmann glia: 29 nCPM
- neutrophils: 13 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 12 nTPM
- cerebral cortex: 11 nTPM
- medulla oblongata: 9.9 nTPM
- basal ganglia: 9.7 nTPM
- thalamus: 9.7 nTPM
- midbrain: 7.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC13A5.
Disease | AllUniProt
Conditions SLC13A5 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) MIM:615905
Disease | GeneticClinVar
62 pathogenic / likely-pathogenic of 811 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 25
- Inborn genetic diseases
- Epileptic encephalopathy
- Global developmental delay
- Undetermined early-onset epileptic encephalopathy
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)
- 0.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.14
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alpha-ketoglutarate transport
- cellular response to lithium ion
- citrate transport
- fumarate transport
- oxaloacetate transport
- transmembrane transport
- succinate transport
Molecular functions
- citrate transmembrane transporter activity
- identical protein binding
- organic acid:sodium symporter activity
- sodium:dicarboxylate symporter activity
- succinate transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC13A5 as an antibody target. Whether an autoantibody or antibody against SLC13A5 could matter depends on whether native SLC13A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC13A5 is annotated at the cell surface, where native SLC13A5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC13A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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