Cys1 cystin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cys1provided by MGI
Official Full Name: cystin 1provided by MGI
Primary source: MGI:MGI:2177632
See related: Ensembl:ENSMUSG00000062563 AllianceGenome:MGI:2177632
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ck; cpk; Ccap; 2900006B19Rik
Summary: Enables chromatin binding activity and transcription corepressor activity. Acts upstream of or within inner ear development; kidney development; and regulation of DNA-templated transcription. Located in several cellular components, including cytoskeleton; cytosol; and nucleus. Is expressed in brain; heart; liver; lung; and metanephros. Used to study autosomal recessive polycystic kidney disease. Orthologous to human CYS1 (cystin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 20.0), bladder adult (RPKM 11.1) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A1.3; 12 8.49 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (24715832..24731794, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (24665833..24681886, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kif12 is a candidate gene within the major polycystic kidney disease modifier 2 locus that modulates renal cystic disease severity in the Cys1cpk mouse.
Title: Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse.
Myc overexpression in the cpk kidney results from the dysregulation of the cystin-necdin regulatory complex and c-Myc, in turn, contributes to cystogenesis in the cpk mouse.
Title: The ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expression.
Analysis of deletion and chimeric constructs identified an AxEGG motif that is necessary to target and retain cystin in the cilium. Derangement of these localization motifs may lead to cystic kidney disease.
Title: Cystin localizes to primary cilia via membrane microdomains and a targeting motif.
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia.
Title: The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AV218859 (e-PCR)
- UniSTS:165813

D12Mit12 (e-PCR), detects polymorphism
- UniSTS:126671

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cystin-1

Names: cilia-associated protein; congenital polycystic kidneys; cystin cilia associated protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.