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CYS1 cystin 1 [ Homo sapiens (human) ]

Gene ID: 192668, updated on 2-Nov-2024

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, Nov 2024]
Expression
Biased expression in kidney (RPKM 77.2), ovary (RPKM 7.7) and 4 other tissues See more
Orthologs
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Genomic context

See CYS1 in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene KLF11 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10185594-10186333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10188595-10189095 Neighboring gene KLF11 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:10197717-10198660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:10198661-10199603 Neighboring gene KLF transcription factor 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10200462-10201324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10201325-10202185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10203342-10203940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10203941-10204538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10204790-10205668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10205669-10206546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10211417-10211918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15296 Neighboring gene uncharacterized LOC124900536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:10231300-10231817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15297 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:10259653-10260596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:10260597-10261539 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:10261588-10262143 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10262327-10262827 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr2:10273128-10273791 Neighboring gene ribonucleotide reductase regulatory subunit M2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10282796-10283457 Neighboring gene small nucleolar RNA SNORA2/SNORA34 family

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ33980

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

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.

mRNA and Protein(s)

  1. NM_001037160.3NP_001032237.1  cystin-1

    See identical proteins and their annotated locations for NP_001032237.1

    Status: VALIDATED

    Source sequence(s)
    AC104794
    Consensus CDS
    CCDS33145.1
    UniProtKB/Swiss-Prot
    Q717R9
    Related
    ENSP00000371234.4, ENST00000381813.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    10056473..10080411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    10085216..10109145 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)