UniProt:Q695T7 SLC6A19

chain
  • chain:1-634
checksum B85EFB02F9D53BB9
comment
  • FUNCTION Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:15286787, PubMed:15286788, PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:15286787, PubMed:15286788, PubMed:19185582). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:18424768, PubMed:19185582).CATALYTIC ACTIVITY L-alanine(in) + Na(+)(in) = L-alanine(out) + Na(+)(out)CATALYTIC ACTIVITY L-cysteine(in) + Na(+)(in) = L-cysteine(out) + Na(+)(out)CATALYTIC ACTIVITY L-glutamine(in) + Na(+)(in) = L-glutamine(out) + Na(+)(out)CATALYTIC ACTIVITY glycine(in) + Na(+)(in) = glycine(out) + Na(+)(out)CATALYTIC ACTIVITY L-isoleucine(in) + Na(+)(in) = L-isoleucine(out) + Na(+)(out)CATALYTIC ACTIVITY L-leucine(in) + Na(+)(in) = L-leucine(out) + Na(+)(out)CATALYTIC ACTIVITY L-methionine(in) + Na(+)(in) = L-methionine(out) + Na(+)(out)CATALYTIC ACTIVITY L-phenylalanine(in) + Na(+)(in) = L-phenylalanine(out) + Na(+)(out)CATALYTIC ACTIVITY L-serine(in) + Na(+)(in) = L-serine(out) + Na(+)(out)CATALYTIC ACTIVITY L-tryptophan(in) + Na(+)(in) = L-tryptophan(out) + Na(+)(out)CATALYTIC ACTIVITY L-tyrosine(in) + Na(+)(in) = L-tyrosine(out) + Na(+)(out)CATALYTIC ACTIVITY L-valine(in) + Na(+)(in) = L-valine(out) + Na(+)(out)SUBUNIT Interacts in a tissue-specific manner with ACE2 in small intestine and with CLTRN in the kidney (By similarity). Interacts with CLTRN; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in kidneys (By similarity). Interacts with ACE2; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in intestine (PubMed:32132184). Interacts with ANPEP; the interaction positively regulates its amino acid transporter activity (By similarity).INTERACTION Colocalizes with ACE2 on the apical membrane of cells lining villi of the jejunum, ileum and on kidney proximal tubules.TISSUE SPECIFICITY Robust expression in kidney and small intestine, with minimal expression in pancreas (PubMed:15286787, PubMed:18424768). 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.DISEASE The disease may be caused by variants affecting the gene represented in this entry. 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.SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
created [InstanceEdit:217385] Schmidt, EE, 2008年03月27日 06:23:53
crossReference
databaseName UniProt
dbId 247322
description
  • recommendedName: Sodium-dependent neutral amino acid transporter B(0)AT1 alternativeName: Solute carrier family 6 member 19 alternativeName: System B(0) neutral amino acid transporter AT1
displayName UniProt:Q695T7 SLC6A19
geneName
  • SLC6A19
  • B0AT1
identifier Q695T7
isSequenceChanged false
keyword
  • 3D-structure
  • Amino-acid transport
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Membrane
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Symport
  • Transmembrane
  • Transmembrane helix
  • Transport
modified [InstanceEdit:9926675] Weiser, Joel, 2024年11月03日
moleculeType Protein
name
  • SLC6A19
otherIdentifier
  • 11722779_a_at
  • 11722780_at
  • 11722781_at
  • 16982699
  • 231021_PM_at
  • 231021_at
  • 231480_PM_at
  • 231480_at
  • 238177_PM_at
  • 238177_at
  • 2799031
  • 2799032
  • 2799033
  • 2799034
  • 2799036
  • 2799037
  • 2799038
  • 2799039
  • 2799041
  • 2799043
  • 2799044
  • 2799045
  • 2799047
  • 2799048
  • 2799049
  • 2799050
  • 2799051
  • 2799052
  • 2799053
  • 2799054
  • 2799055
  • 2799057
  • 2799058
  • 2799059
  • 2799060
  • 2799061
  • 340024
  • 8104268
  • 82143_at
  • 83047_at
  • 90109_at
  • A_14_P202457
  • A_23_P62070
  • A_33_P3220545
  • GE88804
  • GO:0003333
  • GO:0005515
  • GO:0005886
  • GO:0006865
  • GO:0007584
  • GO:0015171
  • GO:0015175
  • GO:0015293
  • GO:0015804
  • GO:0016020
  • GO:0016324
  • GO:0019058
  • GO:0022857
  • GO:0031526
  • GO:0035725
  • GO:0046872
  • GO:0055085
  • GO:0070062
  • HMNXSV003015250
  • Hs.127748.0.A1_3p_at
  • Hs.127748.0.A1_3p_x_at
  • Hs.148367.0.A1_3p_at
  • Hs.163323.0.A1_3p_at
  • ILMN_1724021
  • PH_hs_0038461
  • TC05000016.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • S6A19_HUMAN
  • A8K446
sequenceLength 634
species [Species:48887] Homo sapiens
stId uniprot:Q695T7
url http://purl.uniprot.org/uniprot/Q695T7
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