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The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
SLC32A1 (Solute Carrier Family 32 Member 1) is a Protein Coding gene. Diseases associated with SLC32A1 include Generalized Epilepsy With Febrile Seizures Plus and Amelogenesis Imperfecta, Type Iiia. Among its related pathways are Nicotine addiction 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 amino acid transmembrane transporter activity and gamma-aminobutyric acid:proton symporter activity. An important paralog of this gene is SLC38A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015171 | amino acid transmembrane transporter activity | TAS | -- |
GO:0015187 | glycine transmembrane transporter activity | IEA | -- |
GO:0015495 | gamma-aminobutyric acid:proton symporter activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0008021 | synaptic vesicle | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030285 | integral component of synaptic vesicle membrane | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003333 | amino acid transmembrane transport | IEA | -- |
GO:0006811 | ion transport | TAS | -- |
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0007269 | neurotransmitter secretion | TAS | -- |
GO:0007568 | aging | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC32A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC32A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC32A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC32A1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc32a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc32a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC32A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC32A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC32A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc32a1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68938 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc32a1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011116 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | VGAT 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-47 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AVT1 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G41190 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
918042 | Likely Pathogenic: Generalized epilepsy with febrile seizures plus | 38,728,464(+) |
T/C NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) |
MISSENSE | |
918043 | Likely Pathogenic: Generalized epilepsy with febrile seizures plus | 38,728,050(+) |
T/C NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) |
MISSENSE | |
918044 | Likely Pathogenic: Generalized epilepsy with febrile seizures plus | 38,728,452(+) |
C/G NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) |
MISSENSE | |
918045 | Uncertain Significance: Generalized epilepsy with febrile seizures plus | 38,727,849(+) |
T/C NM_080552.3(SLC32A1):c.788T>C (p.Val263Ala) |
MISSENSE | |
918046 | Likely Pathogenic: Generalized epilepsy with febrile seizures plus | 38,728,443(+) |
G/A NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1058457 | CNV | loss | 25217958 |
nsv954035 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
generalized epilepsy with febrile seizures plus |
|
|
amelogenesis imperfecta, type iiia |
|
|
kaufman oculocerebrofacial syndrome |
|
|
progressive myoclonus epilepsy 1a |
|
|
arthrogryposis, distal, type 2a |
|
|