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Aliases for CYS1 Gene

Aliases for CYS1 Gene

  • Cystin 1 2 3 5
  • Cilia-Associated Protein 3 4
  • Cystin-1 3

External Ids for CYS1 Gene

Previous GeneCards Identifiers for CYS1 Gene

  • GC00U991196
  • GC02U900796
  • GC02M010116
  • GC02M010196

Summaries for CYS1 Gene

GeneCards Summary for CYS1 Gene

CYS1 (Cystin 1) is a Protein Coding gene. Diseases associated with CYS1 include Astereognosia and Yellow Nail Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYS1 Gene

Genomics for CYS1 Gene

Regulatory Elements for CYS1 Gene

Enhancers for CYS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F010089 0.8 FANTOM5 Ensembl ENCODE 56.4 -9.8 -9785 2.5 CTCF IRF3 ZBTB40 NFYB MTA2 TRIM22 CEBPB TBX21 NR2F2 SP1 CYS1 LOC101929882 ENSG00000212558 GC02M010090 ENSG00000272524
GH02F010078 0.2 ENCODE 52.5 +1.8 1806 1.1 BCOR SIN3A ZMYM3 ZIC2 ZNF335 ZNF600 ZBTB20 EZH2 PHF8 MAZ CYS1 LOC101929882 ENSG00000271787
GH02F010079 0.2 ENCODE 24.4 +0.4 406 1.7 CTCF TBL1XR1 SIN3A UBTF EBF1 RELA POLR2A NFYB EED FOS CYS1 LOC101929882 ENSG00000271787
GH02F010033 1.1 FANTOM5 Ensembl ENCODE 23.9 +45.1 45144 5.2 HDAC1 CBX3 SIN3A NFXL1 RAD21 ZNF121 ZNF366 SMARCA5 MIER1 CEBPB CYS1 LOC101929882 ADAM17 PIR54840 ENSG00000260476
GH02F010027 1.2 Ensembl ENCODE 21.5 +51.1 51143 4.0 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A ZNF121 FOS REST CYS1 ENSG00000233502 KLF11 PIR54840 ENSG00000260476
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CYS1 on UCSC Golden Path with GeneCards custom track

Promoters for CYS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CYS1 Gene

10,056,780 bp from pter
10,080,944 bp from pter
24,165 bases
Minus strand

Genomic View for CYS1 Gene

Genes around CYS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYS1 Gene

Proteins for CYS1 Gene

  • Protein details for CYS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for CYS1 Gene

    158 amino acids
    Molecular mass:
    16393 Da
    Quaternary structure:
    • Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium.

neXtProt entry for CYS1 Gene

Post-translational modifications for CYS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYS1 Gene

Domains & Families for CYS1 Gene

Protein Domains for CYS1 Gene


Suggested Antigen Peptide Sequences for CYS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CYS1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CYS1 Gene

Function for CYS1 Gene

Gene Ontology (GO) - Molecular Function for CYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22085962
genes like me logo Genes that share ontologies with CYS1: view
genes like me logo Genes that share phenotypes with CYS1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CYS1 Gene

Localization for CYS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYS1 Gene

Cell projection, cilium membrane; Lipid-anchor. Cytoplasm, cytoskeleton, cilium axoneme. Note=Expression is enriched in the ciliary axoneme. Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.

Subcellular locations from

Jensen Localization Image for CYS1 Gene COMPARTMENTS Subcellular localization image for CYS1 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 4
cytoskeleton 3
nucleus 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for CYS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with CYS1: view

Pathways & Interactions for CYS1 Gene

genes like me logo Genes that share pathways with CYS1: view

Interacting Proteins for CYS1 Gene

Selected Interacting proteins: Q717R9-CYS1_HUMAN for CYS1 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for CYS1 Gene


No data available for SIGNOR curated interactions for CYS1 Gene

Transcripts for CYS1 Gene

mRNA/cDNA for CYS1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYS1 Gene

Cystin 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYS1 Gene

No ASD Table

Relevant External Links for CYS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYS1 Gene

mRNA expression in normal human tissues for CYS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYS1 Gene

This gene is overexpressed in Kidney - Cortex (x15.9).

Protein differential expression in normal tissues from HIPED for CYS1 Gene

This gene is overexpressed in Liver (62.6) and Pancreas (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYS1 Gene

Protein tissue co-expression partners for CYS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYS1 Gene:


SOURCE GeneReport for Unigene cluster for CYS1 Gene:


mRNA Expression by UniProt/SwissProt for CYS1 Gene:

Tissue specificity: Expressed at high levels in the kidney and pancreas. Moderate expression seen in the skeletal muscle, liver and heart. A weak expression seen in the brain, lung, uterus, prostate, testis, small intestine and colon.
genes like me logo Genes that share expression patterns with CYS1: view

Primer Products

Orthologs for CYS1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for CYS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYS1 34 35
  • 97.87 (n)
(Mus musculus)
Mammalia Cys1 34 16 35
  • 75.26 (n)
(Rattus norvegicus)
Mammalia Cys1 34
  • 73.44 (n)
Species where no ortholog for CYS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CYS1 Gene

Gene Tree for CYS1 (if available)
Gene Tree for CYS1 (if available)

Paralogs for CYS1 Gene

No data available for Paralogs for CYS1 Gene

Variants for CYS1 Gene

Sequence variations from dbSNP and Humsavar for CYS1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10165255 -- 10,059,474(+) GGCAG(A/G)TCACT intron-variant
rs10165471 -- 10,059,643(+) GAGCC(A/G)AGAAT intron-variant
rs10171807 -- 10,061,256(+) ACCAA(A/C)CAAAC intron-variant
rs10171924 -- 10,061,387(+) AAGAG(A/G)AATGG intron-variant
rs10182505 -- 10,061,271(+) AAAAA(A/G)GCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYS1 Gene

Variant ID Type Subtype PubMed ID
dgv3715n100 CNV gain 25217958
esv996512 CNV deletion 20482838
nsv828297 CNV loss 20364138
nsv828308 CNV gain 20364138

Variation tolerance for CYS1 Gene

Gene Damage Index Score: 7.04; 80.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYS1 Gene

Disorders for CYS1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CYS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
  • somatosensory agnosia
yellow nail syndrome
  • lymphedema with yellow nails
chronic maxillary sinusitis
  • chronic antritis
- elite association - COSMIC cancer census association via MalaCards
Search CYS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CYS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CYS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYS1 Gene

Publications for CYS1 Gene

  1. Identification of the human CYS1 gene and candidate gene analysis in Boichis disease. (PMID: 12733055) Fliegauf M. … Omran H. (Pediatr. Nephrol. 2003) 2 3 4 64
  2. Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. (PMID: 11854326) Hou X. … Guay-Woodford L.M. (J. Clin. Invest. 2002) 2 3 4 64
  3. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PMID: 22085962) Wright K.J. … Jackson P.K. (Genes Dev. 2011) 3 4 64
  4. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. (PMID: 25241909) Lee J. … Silverman E.K. (Respir. Res. 2014) 3 64
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64

Products for CYS1 Gene

Sources for CYS1 Gene

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