Seroatlas · Human Serome Atlas

CTNS

Cystinosin

Also known as: CTNS_HUMAN, CTNS-LSB, PQLC4, SLC66A4

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

Protein identityUniProt · HPA

UniProt accession
O60931
Gene
CTNS
Ensembl
ENSG00000040531
Chromosome
17
Canonical length
367 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles

OverviewNCBI Gene

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>O60931|CTNS
     1  MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI
    61  TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS
   121  SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DFVALNLTGF VAYSVFNIGL
   181  LWVPYIKEQF LLKYPNGVNP VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF
   241  LVLAWLFAFV TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG
   301  NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF IQHFCLYRKR
   361  PGYDQLN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CTNS 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
7
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 27 nTPM
  • testis: 25 nTPM
  • adrenal gland: 21 nTPM
  • cervix: 19 nTPM
  • skin: 18 nTPM
  • liver: 17 nTPM

Single-cell type

  • platelets: 134 nCPM
  • epicardial cells: 105 nCPM
  • cardiomyocytes: 101 nCPM
  • early spermatids: 58 nCPM
  • pdcs: 55 nCPM
  • hofbauer cells: 52 nCPM

Immune cell

  • plasmacytoid DC: 34 nTPM
  • basophil: 28 nTPM
  • eosinophil: 22 nTPM
  • classical monocyte: 11 nTPM
  • myeloid DC: 9.7 nTPM
  • total PBMC: 7.3 nTPM

Brain region

  • white matter: 66 nTPM
  • medulla oblongata: 48 nTPM
  • midbrain: 47 nTPM
  • basal ganglia: 46 nTPM
  • pons: 42 nTPM
  • cerebral cortex: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CTNS.

Disease | AllUniProt

Conditions CTNS is implicated in, by any mechanism.

  • Cystinosis, nephropathic type (CTNS) MIM:219800
  • Cystinosis, adult, non-nephropathic type (CTNSANN) MIM:219750
  • Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) MIM:219900

Disease | GeneticClinVar

203 pathogenic / likely-pathogenic of 915 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.8
gnomAD pLI
0
gnomAD missense Z
-0.92
DepMap mean gene effect
0.02
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/CTNS. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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