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SLC7A5 (Solute Carrier Family 7 Member 5) is a Protein Coding gene. Diseases associated with SLC7A5 include Phenylketonuria and Lysinuric Protein Intolerance. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and antiporter activity. An important paralog of this gene is SLC7A8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25998567 |
GO:0015171 | amino acid transmembrane transporter activity | ISS | -- |
GO:0015179 | L-amino acid transmembrane transporter activity | IEA,IBA | 21873635 |
GO:0015190 | L-leucine transmembrane transporter activity | IDA | 30867591 |
GO:0015196 | L-tryptophan transmembrane transporter activity | IDA | 30867591 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009925 | basal plasma membrane | IEA,ISS | 18619525 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003333 | amino acid transmembrane transport | IBA | 21873635 |
GO:0006865 | amino acid transport | IEA | -- |
GO:0015803 | branched-chain amino acid transport | IEA | -- |
GO:0015804 | neutral amino acid transport | ISS | -- |
GO:0015807 | L-amino acid transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Melphalan | Approved | Pharma | Transporter | 830 | ||
Dextrothyroxine | Approved, Investigational | Pharma | Transporter | 0 | ||
Gabapentin | Approved, Investigational | Pharma | Transporter, substrate | GABA enhancer | 407 | |
Levodopa | Approved | Pharma | Agonist, Transporter | 470 | ||
Levothyroxine | Approved | Pharma | Transporter | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC7A5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LAT 31 |
|
OneToOne | |
SLC7A5 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | SLC7A5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC7A5 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc7a5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc7a5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC7A5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC7A5 30 31 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc7a5 30 |
|
||
Str.17935 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68975 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SLC7A5 31 |
|
OneToOne | |
LOC797250 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | JhI-21 30 31 32 |
|
ManyToMany | |
mnd 31 32 |
|
ManyToMany | |||
CG1607 31 |
|
ManyToMany | |||
CG6070 32 |
|
|
|||
gb 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012643 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F27C8.1 32 |
|
|
|
aat-2 31 |
|
OneToMany | |||
F52H2.2 32 |
|
|
|||
F07C3.7 32 |
|
|
|||
T11F9.4 32 |
|
|
|||
T13A10.10 32 |
|
|
|||
Y53H1C.1 32 |
|
|
|||
C55C2.5a 32 |
|
|
|||
C55C2.5b 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8408 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5005 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
730064 | Benign: not provided | 87,851,791(-) | G/A | SYNONYMOUS_VARIANT | |
731128 | Benign: not provided | 87,869,036(-) | G/A | SYNONYMOUS_VARIANT | |
777064 | Benign: not provided | 87,841,152(-) | T/A | MISSENSE_VARIANT | |
780313 | Benign: not provided | 87,838,749(-) | G/A | SYNONYMOUS_VARIANT | |
780314 | Benign: not provided | 87,841,130(-) | G/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3062n100 | CNV | loss | 25217958 |
dgv36n68 | CNV | loss | 17160897 |
esv1188587 | CNV | insertion | 17803354 |
esv24582 | CNV | gain | 19812545 |
esv2668850 | CNV | deletion | 23128226 |
esv3553854 | CNV | deletion | 23714750 |
esv3582432 | CNV | loss | 25503493 |
esv3639534 | CNV | loss | 21293372 |
esv3892935 | CNV | loss | 25118596 |
nsv1059786 | CNV | gain | 25217958 |
nsv1062946 | CNV | gain | 25217958 |
nsv1160441 | CNV | deletion | 26073780 |
nsv457616 | CNV | gain | 19166990 |
nsv573536 | CNV | gain | 21841781 |
nsv573557 | CNV | loss | 21841781 |
nsv833322 | CNV | loss | 17160897 |
nsv984361 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
phenylketonuria |
|
|
lysinuric protein intolerance |
|
|
maple syrup urine disease |
|
|
extrahepatic bile duct adenocarcinoma |
|
|
thymic carcinoma |
|
|