Seroatlas · Human Serome Atlas

SLC7A7

Y+L amino acid transporter 1

Also known as: LPI, y+LAT-1, YLAT1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UM01
Gene: SLC7A7
Ensembl: ENSG00000155465
Chromosome: 14
Canonical length: 511 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

Canonical amino-acid sequenceUniProt

511 residues, UniProt reviewed canonical sequence.

>Q9UM01|SLC7A7
     1  MVDSTEYEVA SQPEVETSPL GDGASPGPEQ VKLKKEISLL NGVCLIVGNM IGSGIFVSPK
    61  GVLIYSASFG LSLVIWAVGG LFSVFGALCY AELGTTIKKS GASYAYILEA FGGFLAFIRL
   121  WTSLLIIEPT SQAIIAITFA NYMVQPLFPS CFAPYAASRL LAAACICLLT FINCAYVKWG
   181  TLVQDIFTYA KVLALIAVIV AGIVRLGQGA STHFENSFEG SSFAVGDIAL ALYSALFSYS
   241  GWDTLNYVTE EIKNPERNLP LSIGISMPIV TIIYILTNVA YYTVLDMRDI LASDAVAVTF
   301  ADQIFGIFNW IIPLSVALSC FGGLNASIVA ASRLFFVGSR EGHLPDAICM IHVERFTPVP
   361  SLLFNGIMAL IYLCVEDIFQ LINYYSFSYW FFVGLSIVGQ LYLRWKEPDR PRPLKLSVFF
   421  PIVFCLCTIF LVAVPLYSDT INSLIGIAIA LSGLPFYFLI IRVPEHKRPL YLRRIVGSAT
   481  RYLQVLCMSV AAEMDLEDGG EMPKQRDPKS N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC7A7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 12
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 253 nTPM

Expression across tissuesHPA

Tissue

kidney: 253 nTPM
small intestine: 114 nTPM
duodenum: 92 nTPM
parathyroid gland: 71 nTPM
spleen: 66 nTPM
lung: 49 nTPM

Single-cell type

kupffer cells: 638 nCPM
enterocytes: 428 nCPM
hofbauer cells: 220 nCPM
monocytes: 199 nCPM
proximal tubule cells: 178 nCPM
early spermatids: 134 nCPM

Immune cell

non-classical monocyte: 447 nTPM
intermediate monocyte: 394 nTPM
classical monocyte: 289 nTPM
total PBMC: 148 nTPM
myeloid DC: 94 nTPM
neutrophil: 37 nTPM

Brain region

white matter: 14 nTPM
thalamus: 12 nTPM
medulla oblongata: 11 nTPM
pons: 10 nTPM
spinal cord: 8 nTPM
choroid plexus: 6.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC7A7.

Disease | AllUniProt

Conditions SLC7A7 is implicated in, by any mechanism.

Lysinuric protein intolerance (LPI) MIM:222700

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 903 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lysinuric protein intolerance
SLC7A7-related disorder
Autoinflammatory syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.96
gnomAD pLI: 0
gnomAD missense Z: 0.48
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

amino acid transmembrane transport
L-arginine transmembrane transport
L-leucine transport
regulation of arginine metabolic process
basic amino acid transmembrane transport

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC7A7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

SLC3A2

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC7A7 as an antibody target. Whether an autoantibody or antibody against SLC7A7 could matter depends on whether native SLC7A7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC7A7 is annotated at the cell surface, where native SLC7A7 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC7A7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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