UniProt:Q07837 SLC3A1

chain
  • chain:1-685
checksum F9D6DFD548283899
comment
  • FUNCTION Acts as a chaperone that facilitates biogenesis and trafficking of functional transporter heteromers to the plasma membrane (By similarity) (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:7686906, PubMed:8486766, PubMed:8663184, PubMed:8663357). Associates with SLC7A9 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1. SLC7A9-SLC3A1 transporter has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids. Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine. SLC7A9-SLC3A1 acts as a major transporter for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in early proximal tubules (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:7686906, PubMed:8486766, PubMed:8663184, PubMed:8663357). Associates with SLC7A13 to form a functional complex that transports anionic and neutral amino acids via exchange or facilitated diffusion. SLC7A13-SLC3A1 may act as a major transporter for L-cystine in late proximal tubules, ensuring its reabsorption from the luminal fluid in exchange for cytosolic L-glutamate or L-aspartate (By similarity).SUBUNIT Disulfide-linked heterodimer composed of the catalytic light subunit SLC7A9 and the heavy subunit SLC3A1. The heterodimer is the minimal functional unit. Assembles in non-covalently linked heterotetramers (dimers of heterodimers) and higher order oligomers; the oligomerization is mediated by SLC3A1 likely to prevent degradation in the endoplasmic reticulum and facilitate heteromer trafficking to the plasma membrane (PubMed:10588648, PubMed:12167606, PubMed:16825196, PubMed:32494597, PubMed:32817565). Disulfide-linked heterodimer composed of the catalytic light subunit SLC7A13 and the heavy subunit SLC3A1 (By similarity).INTERACTION Expressed in the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry. Hypotonia-cystinuria syndrome is a contiguous gene syndrome caused by a homozygous deletion on chromosome 2p21 that disrupts the gene represented in this entry and PREPL (PubMed:16385448, PubMed:21686663). A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, PREPL, and CAMKMT, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate intellectual disability and respiratory chain complex IV deficiency (PubMed:21686663).
crossReference
databaseName UniProt
dbId 64172
description
  • recommendedName: Amino acid transporter heavy chain SLC3A1 alternativeName: fullName evidence="32"D2h alternativeName: fullName evidence="33"Neutral and basic amino acid transport protein shortName evidence="33"NBAT alternativeName: Solute carrier family 3 member 1 alternativeName: b(0,+)-type amino acid transporter-related heavy chain shortName evidence="32"rBAT
displayName UniProt:Q07837 SLC3A1
geneName
  • SLC3A1
  • NBAT
identifier Q07837
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Amino-acid transport
  • Cell membrane
  • Cystinuria
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Membrane
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Signal-anchor
  • Transmembrane
  • Transmembrane helix
  • Transport
modified [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType Protein
name
  • SLC3A1
otherIdentifier
  • 11723948_s_at
  • 11745310_s_at
  • 11759940_at
  • 11759998_x_at
  • 11760058_at
  • 16879601
  • 205799_PM_s_at
  • 205799_s_at
  • 239667_PM_at
  • 239667_at
  • 2479699
  • 2479700
  • 2479701
  • 2479702
  • 2479703
  • 2479704
  • 2479705
  • 2479706
  • 2479707
  • 2479708
  • 2479710
  • 2479712
  • 2479713
  • 2479714
  • 2479715
  • 2479716
  • 2479718
  • 2479719
  • 2479720
  • 2479721
  • 2479722
  • 2479726
  • 2479727
  • 2479728
  • 2479729
  • 2479732
  • 2479733
  • 2479734
  • 2479735
  • 6519
  • 77704_at
  • 8041727
  • A_14_P129997
  • A_14_P133213
  • A_24_P217234
  • A_33_P3418417
  • A_33_P3418421
  • A_33_P3418426
  • GE61512
  • GO:0005515
  • GO:0005774
  • GO:0005886
  • GO:0005975
  • GO:0006865
  • GO:0010467
  • GO:0015171
  • GO:0015174
  • GO:0015184
  • GO:0015802
  • GO:0015810
  • GO:0015811
  • GO:0015813
  • GO:0016020
  • GO:0016324
  • GO:0031526
  • GO:0044877
  • GO:0046982
  • GO:0055085
  • GO:0070062
  • GO:1990822
  • HMNXSV003005696
  • HMNXSV003013357
  • HMNXSV003042768
  • ILMN_1754247
  • PH_hs_0012888
  • TC02000275.hg
  • g306441_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • SLC31_HUMAN
  • A8K0S1
  • O00658
  • Q15295
  • Q4J6B4
  • Q4J6B5
  • Q4J6B6
  • Q4J6B7
  • Q4J6B8
  • Q4J6B9
  • Q52M92
  • Q52M94
sequenceLength 685
species [Species:48887] Homo sapiens
stId uniprot:Q07837
url http://purl.uniprot.org/uniprot/Q07837
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