Seroatlas · Human Serome Atlas

SLC7A9

b(0,+)-type amino acid transporter 1

Also known as: BAT1_HUMAN, CSNU3

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

Protein identityUniProt · HPA

UniProt accession: P82251
Gene: SLC7A9
Ensembl: ENSG00000021488
Chromosome: 19
Canonical length: 487 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

Canonical amino-acid sequenceUniProt

487 residues, UniProt reviewed canonical sequence.

>P82251|SLC7A9
     1  MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV SPKSVLSNTE
    61  AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL MEAYGPIPAY LFSWASLIVI
   121  KPTSFAIICL SFSEYVCAPF YVGCKPPQIV VKCLAAAAIL FISTVNSLSV RLGSYVQNIF
   181  TAAKLVIVAI IIISGLVLLA QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY
   241  ITEELRNPYR NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP
   301  ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT PAPAIIFYGI
   361  IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR KELERPIKVP VVIPVLMTLI
   421  SVFLVLAPII SKPTWEYLYC VLFILSGLLF YFLFVHYKFG WAQKISKPIT MHLQMLMEVV
   481  PPEEDPE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC7A9 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: 10
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 122 nTPM

Expression across tissuesHPA

Tissue

small intestine: 122 nTPM
duodenum: 74 nTPM
kidney: 64 nTPM
liver: 16 nTPM
epididymis: 1.4 nTPM
retina: 1 nTPM

Single-cell type

enterocytes: 879 nCPM
oocytes: 97 nCPM
proximal tubule cells: 74 nCPM
enteric transient amplifying cells: 23 nCPM
epididymal efferent duct absorptive cells: 20 nCPM
hepatocytes: 17 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 0.7 nTPM
medulla oblongata: 0.7 nTPM
basal ganglia: 0.6 nTPM
cerebellum: 0.6 nTPM
hippocampal formation: 0.6 nTPM
hypothalamus: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC7A9.

Disease | AllUniProt

Conditions SLC7A9 is implicated in, by any mechanism.

Cystinuria (CSNU) MIM:220100

Disease | GeneticClinVar

88 pathogenic / likely-pathogenic of 471 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cystinuria
SLC7A9-related disorder
Cystine urolithiasis

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): 1.12
gnomAD pLI: 0
gnomAD missense Z: 0.81
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

antiporter activity
L-cystine transmembrane transporter activity
neutral L-amino acid transmembrane transporter activity
peptide antigen binding
protein heterodimerization activity
broad specificity neutral L-amino acid:basic L-amino acid antiporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC7A9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CAV1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC7A9 as an antibody target. Whether an autoantibody or antibody against SLC7A9 could matter depends on whether native SLC7A9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC7A9 is annotated at the cell surface, where native SLC7A9 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 SLC7A9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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