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Cys1
Gene Detail
Symbol

Name
ID
Cys1
cystin 1
MGI:2177632
Synonyms
2900006B19Rik, ck
Feature Type
protein coding gene
Genetic Map
Chromosome 12
8.49 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr12:24665838-24681813 bp, - strand
From VEGA annotation of GRCm38

  15976 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:84604  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque

HCOP human homology predictions: CYS1
Gene Tree: Cys1

Human
homologs
CYS1, cystin 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 192668
neXtProt AC: NX_Q717R9

Human Chr (Location): 2p25.1; chr2:10056799-10080411 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Spontaneous(1) Targeted(1)
Incidental mutations (data from CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Cys1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Cys1 interacts with 75 markers (Mir15b, Mir23b, Mir26b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process inner ear development, kidney development, ...
Component axoneme, cell projection, ...
Function chromatin binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (18)    Tissues (13)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 16
RT-PCR 2
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(21) Genomic(2) cDNA(18) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000027562 (Evidence)
Ensembl Gene Model ENSMUSG00000062563 (Evidence)
Entrez Gene 12879 (Evidence)
UniGene 52265
DFCI TC1629233, TC1582301, TC1667481
DoTS DT.97363747, DT.101366139, DT.489750
NIA Mouse Gene Index U033844
Consensus CDS Project CCDS36422.1
International Mouse Phenotyping Consortium Status Cys1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027562 VEGA Gene Model | MGI Sequence Detail 15976 C57BL/6J ±  kb
transcript OTTMUST00000068253 VEGA | MGI Sequence Detail 1856 Not Applicable 
polypeptide OTTMUSP00000034461 VEGA | MGI Sequence Detail 145 Not Applicable 

For the selected sequences
All sequences(68) RefSeq(12) UniProt(2)
Polymorphisms
SNPs within 2kb(271 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000006152 cystin-1
References
(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:220324 De Vas MG, et al., Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors. Development. 2015 Mar 1;142(5):871-82
All references(84)
Disease annotation references (7)
Other
accession IDs
MGD-MRK-1987, MGD-MRK-2111, MGI:1920108, MGI:2144986, MGI:88482

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory