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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.

Additional gene information for CYS1 Gene

No data available for Entrez Gene Summary , CIViC 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
GH02H010089 1.2 FANTOM5 Ensembl ENCODE 56.5 -9.7 -9685 2 SMARCA5 ZNF687 TRIM22 ELF1 DPF2 ZBTB40 IKZF1 NBN ZBTB33 MLLT1 CYS1 LOC101929882 GC02M010090 ENSG00000212558 RRM2
GH02H010078 0.8 ENCODE 52.5 +1.8 1806 1 CTCF RB1 SIN3A ZIC2 EED ZNF600 IKZF2 ZBTB20 EZH2 MAZ CYS1 LOC101929882 ENSG00000271787
GH02H010033 1.4 Ensembl ENCODE dbSUPER 23.9 +45.5 45538 3 HDAC1 HDGF ATF1 PTBP1 ARNT SIN3A NFXL1 RAD21 YY1 ZNF766 CYS1 LOC101929882 PIR54840 ENSG00000260476
GH02H010028 1.5 Ensembl ENCODE dbSUPER 21.5 +51.0 51043 3 HDGF PKNOX1 MLX ARNT ARID4B TCF12 ZNF143 ATF7 NCOA1 REST CYS1 ENSG00000233502 KLF11 ENSG00000260476 PIR54840
GH02H010119 1.8 FANTOM5 ENCODE dbSUPER 11.8 -41.5 -41491 6 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 RCOR2 TAF1B RRM2 LOC101929882 ENSG00000233502 CYS1 ENSG00000239300 SNORA80B HPCAL1 LOC101929691 ODC1
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000112720 944 1201 CTCF RB1 BACH1 SIN3A EBF1 ZIC2 POLR2A EED SMC3 ZNF143

Genomic Location for CYS1 Gene

Chromosome:
2
Start:
10,056,780 bp from pter
End:
10,080,944 bp from pter
Size:
24,165 bases
Orientation:
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:
    Q717R9-CYS1_HUMAN
    Recommended name:
    Cystin-1
    Protein Accession:
    Q717R9

    Protein attributes for CYS1 Gene

    Size:
    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

Gene Families for CYS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYS1 Gene

ProtoNet:

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 UniProtKB/Swiss-Prot for CYS1 Gene

Function for CYS1 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYS1 gene
Compartment Confidence
extracellular 5
cytosol 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 TAS --
genes like me logo Genes that share ontologies with CYS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYS1 Gene

Pathways & Interactions for CYS1 Gene

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

Interacting Proteins for CYS1 Gene

Gene Ontology (GO) - Biological Process for CYS1 Gene

None

No data available for SIGNOR curated interactions for CYS1 Gene

Drugs & Compounds for CYS1 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for CYS1 Gene

GeneLoc Exon Structure for
CYS1
ECgene alternative splicing isoforms for
CYS1

Expression for CYS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for CYS1 Gene



Protein tissue co-expression partners for CYS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYS1 Gene:

CYS1

SOURCE GeneReport for Unigene cluster for CYS1 Gene:

Hs.27092

mRNA Expression by UniProt/SwissProt for CYS1 Gene:

Q717R9-CYS1_HUMAN
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.

Evidence on tissue expression from TISSUES for CYS1 Gene

  • Kidney(2.8)
genes like me logo Genes that share expression patterns with CYS1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYS1 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia CYS1 33 34
  • 97.87 (n)
mouse
(Mus musculus)
Mammalia Cys1 33 16 34
  • 75.26 (n)
rat
(Rattus norvegicus)
Mammalia Cys1 33
  • 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

ENSEMBL:
Gene Tree for CYS1 (if available)
TreeFam:
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
rs1000024767 -- 10,081,770(+) GAACC(C/T)GGGAG upstream-variant-2KB
rs1000035721 -- 10,058,890(+) TCAGC(C/T)CCTCT reference, missense
rs1000073136 -- 10,082,358(+) CCTAG(A/C)TGCTC upstream-variant-2KB
rs1000150545 -- 10,076,021(+) ATCTC(A/T)ACTAA intron-variant
rs1000231666 -- 10,076,252(+) CCAAG(C/G)GTTCC 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
CYS1

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

Disorders for CYS1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
astereognosia
  • somatosensory agnosia
yellow nail syndrome
  • lymphedema with yellow nails
chronic maxillary sinusitis
  • chronic antritis
polycystic kidney disease 4, with or without hepatic disease
  • pkd3
- 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:
CYS1
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 (Pediatric nephrology (Berlin, Germany) 2003) 2 3 4 60
  2. Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. (PMID: 11854326) Hou X … Guay-Woodford LM (The Journal of clinical investigation 2002) 2 3 4 60
  3. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PMID: 22085962) Wright KJ … Jackson PK (Genes & development 2011) 3 4 60
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2016) 3 60
  5. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. (PMID: 25241909) Lee JH … COPDGene and ECLIPSE Investigators (Respiratory research 2014) 3 60

Products for CYS1 Gene

Sources for CYS1 Gene

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