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CYS1 cystin 1 [ Homo sapiens (human) ]

Gene ID: 192668, updated on 13-Mar-2020

Summary

Official Symbol
CYS1provided by HGNC
Official Full Name
cystin 1provided by HGNC
Primary source
HGNC:HGNC:18525
See related
Ensembl:ENSG00000205795 MIM:618713
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
Expression
Biased expression in kidney (RPKM 77.2), ovary (RPKM 7.7) and 4 other tissues See more
Orthologs

Genomic context

See CYS1 in Genome Data Viewer
Location:
2p25.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (10056799..10080411, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (10196926..10220538, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929882 Neighboring gene Kruppel like factor 11 Neighboring gene ribonucleotide reductase regulatory subunit M2 Neighboring gene uncharacterized LOC105373424 Neighboring gene microRNA 4261

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33980

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
cilium TAS
Traceable Author Statement
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cystin-1
Names
cilia-associated protein

NCBI Reference Sequences (RefSeq)

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_001037160.2NP_001032237.1  cystin-1

    See identical proteins and their annotated locations for NP_001032237.1

    Status: VALIDATED

    Source sequence(s)
    AC104794, AF544983, AK091299, AW298291, BE907159, DB559824
    Consensus CDS
    CCDS33145.1
    UniProtKB/Swiss-Prot
    Q717R9
    Related
    ENSP00000371234.4, ENST00000381813.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    10056799..10080411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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