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Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
SLC22A5 (Solute Carrier Family 22 Member 5) is a Protein Coding gene. Diseases associated with SLC22A5 include Carnitine Deficiency, Systemic Primary and Visceral Steatosis. Among its related pathways are Phospholipase D signaling pathway and 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 PDZ domain binding and symporter activity. An important paralog of this gene is SLC22A4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 15523054 |
GO:0005524 | ATP binding | IEA | -- |
GO:0015226 | carnitine transmembrane transporter activity | IMP | 9916797 |
GO:0015293 | symporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IC,TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016324 | apical plasma membrane | IDA | 17274673 |
GO:0031526 | brush border membrane | ISS | 15523054 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
2 | Phospholipase D signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0009609 | response to symbiotic bacterium | IMP | 18005709 |
GO:0015697 | quaternary ammonium group transport | IDA | 9618255 |
GO:0015879 | carnitine transport | IMP | 9916797 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Desipramine | Approved, Investigational | Pharma | Transporter, inhibitor | 42 | ||
Verapamil | Approved | Pharma | Channel blocker, Pore Blocker, Inhibitor, Inhibition, Transporter, inhibitor | 134 | ||
Amphetamine | Approved, Illicit, Investigational | Pharma | Transporter, substrate | 154 | ||
Ampicillin | Approved, Vet_approved | Pharma | Transporter, inhibitor | 73 | ||
Cefadroxil | Approved, Vet_approved, Withdrawn | Pharma | Transporter, inhibitor | 12 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
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7440-23-5 | ||||
4-ene-Valproic acid |
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O-Desmethylverapamil (D-702) |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC22A5 30 |
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Cow (Bos Taurus) |
Mammalia | SLC22A5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC22A5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc22a5 30 17 31 |
|
OneToMany | |
Slc22a21 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Slc22a5 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | SLC22A5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC22A5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | SLC22A5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101731319 30 |
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MGC76054 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | slc22a5-prov 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | slc22a21 31 |
|
ManyToMany | |
slc22a4 30 31 |
|
ManyToMany | |||
slc22a5 31 |
|
ManyToMany | |||
zgc66036 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Orct 32 |
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CG8654 32 |
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CG4630 32 |
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CG9317 32 |
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CG13610 32 |
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CG3790 32 |
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CG8925 32 |
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CG6126 32 |
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CG6600 32 |
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CG7084 32 |
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CG6356 32 |
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CG7458 32 |
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CG16727 32 |
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CG17752 32 |
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CG5592 32 |
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CG7442 32 |
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CG17751 32 |
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CG14857 32 |
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CG6231 32 |
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CG7333 32 |
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CG14855 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | oct-1 32 |
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F52F12.1a 32 |
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ZK455.8a 32 |
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ZK455.8b 32 |
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K05F1.6 32 |
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Y82E9BR.16 32 |
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B0252.3 32 |
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oat-1 32 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | 2-Oct 30 |
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Rice (Oryza sativa) |
Liliopsida | Os07g0562300 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639592 | Uncertain Significance: Renal carnitine transport defect | 132,390,909(+) | G/A | INTRON_VARIANT | |
641983 | Uncertain Significance: Renal carnitine transport defect | 132,385,379(+) | T/C | MISSENSE_VARIANT | |
642526 | Uncertain Significance: Renal carnitine transport defect | 132,390,836(+) | G/A | MISSENSE_VARIANT | |
645158 | Pathogenic: Renal carnitine transport defect | 132,390,794(+) | CA/C | FRAMESHIFT_VARIANT | |
645726 | Uncertain Significance: Renal carnitine transport defect | 132,385,445(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
carnitine deficiency, systemic primary |
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visceral steatosis |
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crohn's disease |
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multiple acyl-coa dehydrogenase deficiency |
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inflammatory bowel disease 5 |
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