CYS1 cystin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYS1provided by HGNC
Official Full Name: cystin 1provided by HGNC
Primary source: HGNC:HGNC:18525
See related: Ensembl:ENSG00000205795 MIM:618713; AllianceGenome:HGNC:18525
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable chromatin binding activity and transcription corepressor activity. Predicted to act upstream of or within inner ear development; kidney development; and regulation of DNA-templated transcription. Predicted to be located in cytoskeleton; membrane; and nucleus. Biomarker of stomach cancer. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney (RPKM 77.2), ovary (RPKM 7.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (10056473..10080411, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (10085216..10109145, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (10196600..10220538, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
Title: Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
genomic region comprises three coding exons, which span 22 kb and the transcript harbors an open reading frame of 477 nucleotides encoding a protein with 158 amino acid residues, which is called cystin
Title: Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19152 (e-PCR)
- UniSTS:27956

RH48834 (e-PCR)
- UniSTS:42296

SHGC-24187 (e-PCR)
- UniSTS:69695

RH47577 (e-PCR)
- UniSTS:29787

SHGC-149902 (e-PCR)
- UniSTS:177293

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in cilium	TAS Traceable Author Statement more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cystin-1

Names: 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.