SLC6A19
Protein name:
N/D
Aliases:
B0AT1, HND
Substrates:
neutral amino acids
Transport type:
N/D
Tissue and cellular expression:
intestine (duodenum, jejunum, ileum), stomach, kidney, liver, prostate
Subcellular expression:
N/D
Disease:
Hartnup disorder, hypertension?, hyperglycinuria
Locus:
5p15.33
Sequence ID:
NP_001003841.1,
NM_001003841.2
Gene ID:
340024
Splice variants:
N/D
S6A19_HUMAN (UniProt)
Gene names:
SLC6A19, B0AT1
Protein names and data:
S6A19_HUMAN, Full=Sodium-dependent neutral amino acid transporter B(0)AT1, Full=Solute carrier family 6 member 19;Full=System B(0) neutral amino acid transporter AT1;
Length: 634 a.a., Mass: 71110 Da,
fasta formatted sequence
Function:
Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium- dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity)
Disease:
(OMIM:
138500 234500 242600 608893)
Defects in SLC6A19 are a cause of Hartnup disorder (HND) [MIM:234500]. HND is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria; Defects in SLC6A19 may be a cause of hyperglycinuria (HG) [MIM:138500]. It is a condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. Note=SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria; Defects in SLC6A19 may be a cause of iminoglycinuria (IG) [MIM:242600]. It is a disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Note=SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families
Cellular location:
Membrane; Multi-pass membrane protein (Probable)
Tissue specificity:
Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung
Database cross-references
UniProt:
Q695T7
NextBio:
97667
OMIM:
138500
234500
242600
608893
Ensembl:
ENST00000304460
GeneCard:
GC05P001201
TCDB:
2.A.22.6.3
PharmGenUCSF:
SLC6A19
Guide to Pharmacology:
SLC6A19 (939)
Neutral amino acid transporter subfamily (939)
HGNC:
HGNC:27960
Genetic variants
See also Ensembl:ENST00000304460
57 - 57
R -> C (in HND; abolishes transport activity). VAR_023314
173 - 173
D -> N (in HND; population allele frequency among Europeans is 0.007; reduces transport activity by 50% but does not completely inactivates the transporter). VAR_023315
240 - 240
R -> Q. VAR_023316
242 - 242
L -> P (in HND; completely abolishes the transport activity). VAR_023317
252 - 252
V -> I (in dbSNP:rs7732589). VAR_023318
7732589
501 - 501
E -> K (in HND; completely abolishes the transport activity). VAR_023319
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