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CATSPER1 (cation channel sperm associated 1)

Identity

Alias_namescation channel
Alias_symbol (synonym)CATSPER
Other aliasSPGF7
HGNC (Hugo) CATSPER1
LocusID (NCBI) 117144
Atlas_Id 56291
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65784223 and ends at 65793988 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KMT5B (11q13.2) / CATSPER1 (11q13.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CATSPER1   17116
Cards
Entrez_Gene (NCBI)CATSPER1  117144  cation channel sperm associated 1
AliasesCATSPER; SPGF7
GeneCards (Weizmann)CATSPER1
Ensembl hg19 (Hinxton)ENSG00000175294 [Gene_View]  chr11:65784223-65793988 [Contig_View]  CATSPER1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000175294 [Gene_View]  chr11:65784223-65793988 [Contig_View]  CATSPER1 [Vega]
ICGC DataPortalENSG00000175294
TCGA cBioPortalCATSPER1
AceView (NCBI)CATSPER1
Genatlas (Paris)CATSPER1
WikiGenes117144
SOURCE (Princeton)CATSPER1
Genetics Home Reference (NIH)CATSPER1
Genomic and cartography
GoldenPath hg19 (UCSC)CATSPER1  -     chr11:65784223-65793988 -  11q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CATSPER1  -     11q13.1   [Description]    (hg38-Dec_2013)
EnsemblCATSPER1 - 11q13.1 [CytoView hg19]  CATSPER1 - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBICATSPER1 [Mapview hg19]  CATSPER1 [Mapview hg38]
OMIM606389   612997   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_053054
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CATSPER1
Cluster EST : UnigeneHs.189105 [ NCBI ]
CGAP (NCI)Hs.189105
Alternative Splicing GalleryENSG00000175294
Gene ExpressionCATSPER1 [ NCBI-GEO ]   CATSPER1 [ EBI - ARRAY_EXPRESS ]   CATSPER1 [ SEEK ]   CATSPER1 [ MEM ]
Gene Expression Viewer (FireBrowse)CATSPER1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117144
GTEX Portal (Tissue expression)CATSPER1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEC5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEC5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEC5
Splice isoforms : SwissVarQ8NEC5
PhosPhoSitePlusQ8NEC5
Domains : Interpro (EBI)CatSper1    Channel_four-helix_dom    Ion_trans_dom   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)CATSPER1
DMDM Disease mutations117144
Blocks (Seattle)CATSPER1
SuperfamilyQ8NEC5
Human Protein AtlasENSG00000175294
Peptide AtlasQ8NEC5
HPRD09396
IPIIPI00302313   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEC5
IntAct (EBI)Q8NEC5
FunCoupENSG00000175294
BioGRIDCATSPER1
STRING (EMBL)CATSPER1
ZODIACCATSPER1
Ontologies - Pathways
QuickGOQ8NEC5
Ontology : AmiGOcalcium activated cation channel activity  voltage-gated calcium channel activity  protein binding  plasma membrane  plasma membrane  multicellular organism development  spermatogenesis  fusion of sperm to egg plasma membrane  cell differentiation  flagellated sperm motility  motile cilium  response to progesterone  regulation of ion transmembrane transport  sperm-egg recognition  CatSper complex  regulation of calcium ion transport  regulation of cilium beat frequency involved in ciliary motility  calcium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIcalcium activated cation channel activity  voltage-gated calcium channel activity  protein binding  plasma membrane  plasma membrane  multicellular organism development  spermatogenesis  fusion of sperm to egg plasma membrane  cell differentiation  flagellated sperm motility  motile cilium  response to progesterone  regulation of ion transmembrane transport  sperm-egg recognition  CatSper complex  regulation of calcium ion transport  regulation of cilium beat frequency involved in ciliary motility  calcium ion transmembrane transport  membrane depolarization during action potential  
NDEx NetworkCATSPER1
Atlas of Cancer Signalling NetworkCATSPER1
Wikipedia pathwaysCATSPER1
Orthology - Evolution
OrthoDB117144
GeneTree (enSembl)ENSG00000175294
Phylogenetic Trees/Animal Genes : TreeFamCATSPER1
HOVERGENQ8NEC5
HOGENOMQ8NEC5
Homologs : HomoloGeneCATSPER1
Homology/Alignments : Family Browser (UCSC)CATSPER1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCATSPER1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CATSPER1
dbVarCATSPER1
ClinVarCATSPER1
1000_GenomesCATSPER1 
Exome Variant ServerCATSPER1
ExAC (Exome Aggregation Consortium)CATSPER1 (select the gene name)
Genetic variants : HAPMAP117144
Genomic Variants (DGV)CATSPER1 [DGVbeta]
DECIPHER (Syndromes)11:65784223-65793988  ENSG00000175294
CONAN: Copy Number AnalysisCATSPER1 
Mutations
ICGC Data PortalCATSPER1 
TCGA Data PortalCATSPER1 
Broad Tumor PortalCATSPER1
OASIS PortalCATSPER1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCATSPER1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCATSPER1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CATSPER1
DgiDB (Drug Gene Interaction Database)CATSPER1
DoCM (Curated mutations)CATSPER1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CATSPER1 (select a term)
intoGenCATSPER1
Cancer3DCATSPER1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606389    612997   
Orphanet20358   
MedgenCATSPER1
Genetic Testing Registry CATSPER1
NextProtQ8NEC5 [Medical]
TSGene117144
GENETestsCATSPER1
Huge Navigator CATSPER1 [HugePedia]
snp3D : Map Gene to Disease117144
BioCentury BCIQCATSPER1
ClinGenCATSPER1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117144
Chemical/Pharm GKB GenePA38438
Clinical trialCATSPER1
Miscellaneous
canSAR (ICR)CATSPER1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCATSPER1
EVEXCATSPER1
GoPubMedCATSPER1
iHOPCATSPER1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:55:08 CEST 2017

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