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Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]
SLC13A3 (Solute Carrier Family 13 Member 3) is a Protein Coding gene. Diseases associated with SLC13A3 include Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate and N-Acetylglutamate Synthase Deficiency. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and high-affinity sodium:dicarboxylate symporter activity. An important paralog of this gene is SLC13A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005343 | organic acid:sodium symporter activity | IDA, TAS | 10992006 |
GO:0015137 | citrate transmembrane transporter activity | IBA,ISS | -- |
GO:0015139 | alpha-ketoglutarate transmembrane transporter activity | IDA | 30635937 |
GO:0015141 | succinate transmembrane transporter activity | IDA,TAS | 10992006 |
GO:0015293 | symporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IBA | 21873635 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.37
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0006835 | dicarboxylic acid transport | IEA | -- |
GO:0015742 | alpha-ketoglutarate transport | IEA | -- |
GO:0015746 | citrate transport | IBA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Succinic acid | Approved | Nutra | Agonist, Full agonist, Transporter, substrate | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: |
ExUns: | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20a | · | 20b | · | 20c | · | 20d | · | 20e | · | 20f |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||
SP15: | - | ||||||||||||||||||||||||||||||||
SP16: | - | - | |||||||||||||||||||||||||||||||
SP17: | |||||||||||||||||||||||||||||||||
SP18: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC13A3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC13A3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC13A3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc13a3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc13a3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC13A3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC13A3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC13A3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC13A3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc13a3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc13a3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7309 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nac-2 30 |
|
||
nac-3 31 |
|
ManyToMany | |||
F31F6.6 32 |
|
|
|||
nac-1 31 |
|
ManyToMany | |||
B0285.6 32 |
|
|
|||
R107.1 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PHO87 33 |
|
|
|
Rice (Oryza sativa) |
Liliopsida | Os.15092 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1568904872 | Pathogenic: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE | 46,560,189(-) | C/T | MISSENSE_VARIANT | |
rs1568927501 | Pathogenic: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE | 46,596,190(-) | G/T | MISSENSE_VARIANT | |
rs188700676 | Uncertain Significance: Malignant tumor of prostate | 46,560,194(-) | C/T | MISSENSE_VARIANT | |
rs199961976 | Pathogenic: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE | 46,589,157(-) | T/C | INTRON_VARIANT | |
rs201443231 | Uncertain Significance: not provided | 46,613,545(-) | T/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2258n106 | CNV | deletion | 24896259 |
dgv783e214 | CNV | gain | 21293372 |
esv2722460 | CNV | deletion | 23290073 |
esv2722462 | CNV | deletion | 23290073 |
esv2722463 | CNV | deletion | 23290073 |
esv2722464 | CNV | deletion | 23290073 |
esv2758797 | CNV | gain | 17122850 |
esv32661 | CNV | gain | 17666407 |
esv34663 | CNV | gain | 17911159 |
esv3645955 | CNV | loss | 21293372 |
esv6676 | CNV | gain | 19470904 |
nsv1061899 | CNV | loss | 25217958 |
nsv179106 | CNV | deletion | 16902084 |
nsv179609 | CNV | deletion | 16902084 |
nsv475262 | CNV | novel sequence insertion | 20440878 |
nsv509771 | CNV | insertion | 20534489 |
nsv828733 | CNV | gain | 20364138 |
nsv833994 | CNV | gain | 17160897 |
nsv9812 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate |
|
|
n-acetylglutamate synthase deficiency |
|
|
dental anomalies and short stature |
|
|
nephrolithiasis, uric acid |
|
|
canavan disease |
|
|