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This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. SARS-CoV-2 interacts with the angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of SLC6A19. [provided by RefSeq, Jun 2020]
SLC6A19 (Solute Carrier Family 6 Member 19) is a Protein Coding gene. Diseases associated with SLC6A19 include Hartnup Disorder and Iminoglycinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and neutral amino acid transmembrane transporter activity. An important paralog of this gene is SLC6A18.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005328 | neurotransmitter:sodium symporter activity | IEA | -- |
GO:0005515 | protein binding | IPI | 19185582 |
GO:0015171 | amino acid transmembrane transporter activity | TAS | -- |
GO:0015175 | neutral amino acid transmembrane transporter activity | IEA,IDA | 18424768 |
GO:0015293 | symporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016324 | apical plasma membrane | IEA,IDA | 18424768 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003333 | amino acid transmembrane transport | IEA | -- |
GO:0006810 | transport | IBA | 21873635 |
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0006865 | amino acid transport | TAS | -- |
GO:0007584 | response to nutrient | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Chloride ion | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC6A19 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC6A19 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC6A19 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc6a19 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc6a19 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC6A19 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC6A19 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC6A19 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC6A19 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc6a19 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc6a19a 31 |
|
OneToMany | |
slc6a19b 30 31 |
|
OneToMany | |||
CU856173.1 31 |
|
OneToMany | |||
wufd58f10 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG43066 31 |
|
ManyToMany | |
CG10804 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638526 | Uncertain Significance: Neutral 1 amino acid transport defect | 1,221,887(+) | G/A | MISSENSE_VARIANT | |
708817 | Benign: not provided | 1,216,654(+) | C/T | SYNONYMOUS_VARIANT | |
709027 | Likely Benign: not provided | 1,221,736(+) | G/A | SYNONYMOUS_VARIANT | |
709389 | Likely Benign: not provided | 1,213,455(+) | C/T | INTRON_VARIANT | |
710959 | Benign: not provided | 1,208,870(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3196e59 | CNV | duplication | 20981092 |
dgv687n27 | CNV | gain | 19166990 |
esv2729441 | CNV | deletion | 23290073 |
esv2729442 | CNV | deletion | 23290073 |
esv2729443 | CNV | deletion | 23290073 |
esv2729444 | CNV | deletion | 23290073 |
esv2729445 | CNV | deletion | 23290073 |
esv3416495 | CNV | duplication | 20981092 |
esv3575810 | CNV | gain | 25503493 |
esv3603797 | CNV | gain | 21293372 |
esv3894109 | CNV | gain | 25118596 |
nsv1033961 | CNV | gain | 25217958 |
nsv1114639 | CNV | deletion | 24896259 |
nsv1119021 | CNV | deletion | 24896259 |
nsv1126058 | CNV | deletion | 24896259 |
nsv1133013 | OTHER | inversion | 24896259 |
nsv1143305 | CNV | deletion | 24896259 |
nsv1147234 | OTHER | inversion | 26484159 |
nsv4678 | CNV | deletion | 18451855 |
nsv470984 | CNV | loss | 18288195 |
nsv470986 | CNV | gain | 18288195 |
nsv509044 | CNV | insertion | 20534489 |
nsv510895 | OTHER | complex | 20534489 |
nsv527182 | CNV | loss | 19592680 |
nsv596629 | CNV | gain | 21841781 |
nsv596824 | CNV | loss | 21841781 |
nsv596831 | CNV | gain | 21841781 |
nsv950627 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hartnup disorder |
|
|
iminoglycinuria |
|
|
hyperglycinuria |
|
|
aminoaciduria |
|
|
pellagra |
|
|