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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
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:24715832-24731794 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 8.49 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    264 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 Chr12:24715832-24731812 (-)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYS1, cystin 1
  • Links
    NCBI Gene ID: 192668
    neXtProt AC: NX_Q717R9
    UniProt: Q717R9

  • Chr Location
    2p25.1; chr2:10056473-10080944 (-)  GRCh38
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
less
  • Phenotype Summary
    39 phenotypes from 1 allele in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    58 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
less
  • All GO Annotations
    16
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    724
  • Tissues
    13
  • cDNA Data
    19
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12879 NCBI Gene Model | MGI Sequence Detail 15963 C57BL/6J ±  kb
    transcript NM_138686 RefSeq | MGI Sequence Detail 1838 ZRU/MplStud  
    polypeptide Q8R4T1 UniProt | EBI | MGI Sequence Detail 145 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    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 96
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 7
      Phenotypes 58
    • 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:341952 Zhang YJ, et al., Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD. FASEB J. 2023 Jul;37(7):e23008
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory