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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:24665833-24681813 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 8.49 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    265 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2177632
protein coding gene Chr12:24665833-24681819 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019631
protein coding gene Chr12:22347062-22362486 (-)
A/J MGP_AJ_G0019598
protein coding gene Chr12:21737295-21753716 (-)
AKR/J MGP_AKRJ_G0019569
protein coding gene Chr12:22468798-22483801 (-)
BALB/cJ MGP_BALBcJ_G0019575
protein coding gene Chr12:22007357-22022894 (-)
C3H/HeJ MGP_C3HHeJ_G0019379
protein coding gene Chr12:22347366-22363555 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020023
protein coding gene Chr12:23030275-23049095 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017647
protein coding gene Chr12:21222262-21237223 (-)
CAST/EiJ MGP_CASTEiJ_G0018934
protein coding gene Chr12:17299043-17320441 (-)
CBA/J MGP_CBAJ_G0019350
protein coding gene Chr12:23765995-23789853 (-)
DBA/2J MGP_DBA2J_G0019464
protein coding gene Chr12:21590451-21605822 (-)
FVB/NJ MGP_FVBNJ_G0019455
protein coding gene Chr12:21482301-21497189 (-)
LP/J MGP_LPJ_G0019534
protein coding gene Chr12:22415691-22433835 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019490
protein coding gene Chr12:23631025-23647036 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020062
protein coding gene Chr12:22029921-22049078 (-)
PWK/PhJ MGP_PWKPhJ_G0018701
protein coding gene Chr12:16320508-16342588 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018489
protein coding gene Chr12:16534417-16550756 (-)
WSB/EiJ MGP_WSBEiJ_G0018985
protein coding gene Chr12:22182843-22198342 (-)



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
    50 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000062563 Ensembl Gene Model | MGI Sequence Detail 15981 C57BL/6J ±  kb
    transcript ENSMUST00000156453 Ensembl | MGI Sequence Detail 1732 Not Applicable  
    polypeptide ENSMUSP00000134522 Ensembl | MGI Sequence Detail 145 Not Applicable  
    For the selected sequence
    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 50
    • 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:262970 Idowu J, et al., Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease. Sci Rep. 2018 Feb 20;8(1):3340

    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
    02/12/2019
    MGI 6.13
    The Jackson Laboratory