Seroatlas · Human Serome Atlas

CYS1

Cystin-1

Also known as: CYS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q717R9
Gene: CYS1
Ensembl: ENSG00000205795
Chromosome: 2
Canonical length: 158 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

Predicted to enable chromatin binding activity and transcription corepressor activity. Predicted to act upstream of or within inner ear development; kidney development; and regulation of DNA-templated transcription. Predicted to be located in cytoskeleton; membrane; and nucleus. Biomarker of stomach cancer. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

158 residues, UniProt reviewed canonical sequence.

>Q717R9|CYS1
     1  MGSGSSRSSR TLRRRRSPES LPAGPGAAAL EGGTRRRVPV AAAEVPGAAA EEAPGRDPSP
    61  VAPPDGRDET LRLLDELLAE SAAWGPPEPA PRRPARLRPT AVAGSAVCAE QSTEGHPGSG
   121  NVSEAPGSGR KKPERPAAIS YDHSEEGLMA SIEREYCR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYS1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.69
Highest tissue expression: 117 nTPM

Expression across tissuesHPA

Tissue

kidney: 117 nTPM
pancreas: 29 nTPM
choroid plexus: 16 nTPM
blood vessel: 13 nTPM
ovary: 12 nTPM
colon: 10 nTPM

Single-cell type

distal convoluted tubule cells: 274 nCPM
renal connecting tubule cells: 186 nCPM
loop of henle epithelial cells: 178 nCPM
pancreatic duct cells: 116 nCPM
renal collecting duct principal cells: 98 nCPM
proximal tubule cells: 79 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

choroid plexus: 25 nTPM
medulla oblongata: 8.5 nTPM
spinal cord: 7.2 nTPM
amygdala: 6.4 nTPM
midbrain: 6.3 nTPM
white matter: 6.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYS1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 55 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive polycystic kidney disease

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): 1.85
gnomAD pLI: 0.11
gnomAD missense Z: 0.29
DepMap mean gene effect: -0.04
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

Cystin-1
Cystin-1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CYS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYS1 as an antibody target. Whether an autoantibody or antibody against CYS1 could matter depends on whether native CYS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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