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Cys1 Gene Detail
Summary
  • Symbol
    Cys1
  • Name
    cystin 1
  • Synonyms
    2900006B19Rik, ck
  • Feature Type
    protein coding gene
  • IDs
    MGI:2177632
    NCBI Gene: 12879
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:24665838-24681813 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15976 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 8.49 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    CYS1, cystin 1
  • Vertebrate Orthologs
    5
  • Human Ortholog
    CYS1, cystin 1
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 192668
    neXtProt AC: NX_Q717R9
    UniProt: Q717R9

  • Chr Location
    2p25.1; chr2:10056799-10080411 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cys1 mouse models

Human Disease Mouse Models
      
IDs
View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 1 allele in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutant mice display kidneys cysts, enlarged kidneys that distend the abdomen, increased blood urea nitrogen, and die shortly before or soon after weaning. On some strain backgrounds pancreatic and hepatic cysts and fibrosis are also seen.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000027562 VEGA Gene Model | MGI Sequence Detail 15976 C57BL/6J ±  kb
    transcript OTTMUST00000095492 VEGA | MGI Sequence Detail 880 Not Applicable  
    polypeptide OTTMUSP00000053281 VEGA | MGI Sequence Detail 145 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      265 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      3 Sequences
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 2
      cDNA 19
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1987, MGD-MRK-2111, MGI:1920108, MGI:2144986, MGI:88482
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 5
      Diseases 6
      Gene Ontology 6
      Phenotypes 49
    • Earliest
      J:31977 Thomas PE, et al., The genetics of aryl hydrocarbon hydroxylase induction in mice: a single gene difference between C57BL-6J and DBA-2J. Biochem Genet. 1972 Apr;6(2):157-68
    • Latest
      J:243034 Mrug M, et al., Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse. PLoS One. 2015;10(8):e0135678

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory