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The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
SLC16A1 (Solute Carrier Family 16 Member 1) is a Protein Coding gene. Diseases associated with SLC16A1 include Erythrocyte Lactate Transporter Defect and Hyperinsulinemic Hypoglycemia, Familial, 7. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and monocarboxylic acid transmembrane transporter activity. An important paralog of this gene is SLC16A7.
Monocarboxylate transporters (MCT) catalyze the bidirectional proton-linked transport of short-chain monocarboxylates such as L-lactate, ketone bodies and pyruvate across the plasma membrane of mammalian cells. MCT1-4 are key in the regulation of many cellular processes.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008028 | monocarboxylic acid transmembrane transporter activity | TAS,IBA | 21873635 |
GO:0015129 | lactate transmembrane transporter activity | IEA | -- |
GO:0015130 | mevalonate transmembrane transporter activity | TAS | 1429658 |
GO:0015293 | symporter activity | IEA | -- |
GO:0042802 | identical protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005813 | centrosome | IDA | 23816619 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA,ISS | -- |
GO:0016020 | membrane | TAS,HDA | 19946888 |
GO:0016021 | integral component of membrane | TAS,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006090 | pyruvate metabolic process | TAS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0007098 | centrosome cycle | IMP | 23816619 |
GO:0015718 | monocarboxylic acid transport | IBA | 21873635 |
GO:0015728 | mevalonate transport | TAS | 1429658 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
acetic acid | Approved | Pharma | Agonist, Full agonist, Transporter, substrate | 139 | ||
Nateglinide | Approved, Investigational | Pharma | Transporter, substrate | Insulin secretagog agent | 24 | |
Salicylic acid | Approved, Investigational, Vet_approved | Pharma | Channel blocker, Transporter, substrate | 292 | ||
4-Hydroxybutyric acid | Approved, Illicit, Investigational | Pharma | Transporter, inhibitor | 0 | ||
Foscarnet | Approved | Pharma | Transporter, substrate | 34 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
4-ene-Valproic acid |
|
|||||
SR 13800 |
|
227321-12-2 |
|
|
Compound | Action | Cas Number |
---|---|---|
AR-C155858 | MCT1 and MCT2 inhibitor; inhibits glycolysis in cancer cells | 496791-37-8 |
CHC | MCT inhibitor; decreases glycoloysis | 28166-41-8 |
SR 13800 | Potent MCT1 inhibitor | 227321-12-2 |
UK 5099 | MCT inhibitor; also inhibits of pyruvate transport | 56396-35-1 |
Compound | Action | Cas Number |
---|---|---|
7ACC1 | 50995-74-9 | |
7ACC2 | 1472624-85-3 | |
AR-C155858 | MCT1 and MCT2 inhibitor | 496791-37-8 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC16A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC16A1 30 |
|
||
MCT1 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | SLC16A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc16a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc16a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC16A1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC16A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC16A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC16A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc16a1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | slc16a1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SLC16A1 (1 of 2) 31 |
|
OneToMany | |
slc16a1 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712920 | Benign: not provided | 112,917,433(-) | T/C | MISSENSE_VARIANT | |
713802 | Likely Benign: not provided | 112,922,027(-) | G/A | SYNONYMOUS_VARIANT | |
717692 | Likely Benign: not provided | 112,917,551(-) | A/G | SYNONYMOUS_VARIANT | |
727984 | Likely Benign: not provided | 112,917,425(-) | A/C | SYNONYMOUS_VARIANT | |
733619 | Benign/Likely Benign: Exercise-induced hyperinsulinism; not provided | 112,914,112(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv83e212 | CNV | gain | 25503493 |
esv24626 | CNV | loss | 19812545 |
esv3584026 | CNV | gain | 25503493 |
esv3894045 | CNV | gain | 25118596 |
nsv1004102 | CNV | gain | 25217958 |
nsv946145 | CNV | duplication | 23825009 |
nsv999915 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
erythrocyte lactate transporter defect |
|
|
hyperinsulinemic hypoglycemia, familial, 7 |
|
|
monocarboxylate transporter 1 deficiency |
|
|
hypoglycemia |
|
|
hyperinsulinism |
|
|