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CAMSAP1 (calmodulin regulated spectrin associated protein 1)

Identity

Alias_namescalmodulin regulated spectrin-associated protein 1
Alias_symbol (synonym)FLJ31228
DKFZp434F195
Other alias-
HGNC (Hugo) CAMSAP1
LocusID (NCBI) 157922
Atlas_Id 54961
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 138700333 and ends at 138799005 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAMSAP1 (9q34.3) / KCNT1 (9q34.3)CAMSAP1 (9q34.3) / SDHAF2 (11q12.2)LOC100507412 (-) / CAMSAP1 (9q34.3)
CAMSAP1 9q34.3 / KCNT1 9q34.3

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)CAMSAP1   19946
Cards
Entrez_Gene (NCBI)CAMSAP1  157922  calmodulin regulated spectrin associated protein 1
Aliases
GeneCards (Weizmann)CAMSAP1
Ensembl hg19 (Hinxton)ENSG00000130559 [Gene_View]  chr9:138700333-138799005 [Contig_View]  CAMSAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130559 [Gene_View]  chr9:138700333-138799005 [Contig_View]  CAMSAP1 [Vega]
ICGC DataPortalENSG00000130559
TCGA cBioPortalCAMSAP1
AceView (NCBI)CAMSAP1
Genatlas (Paris)CAMSAP1
WikiGenes157922
SOURCE (Princeton)CAMSAP1
Genetics Home Reference (NIH)CAMSAP1
Genomic and cartography
GoldenPath hg19 (UCSC)CAMSAP1  -     chr9:138700333-138799005 -  9q34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAMSAP1  -     9q34.3   [Description]    (hg38-Dec_2013)
EnsemblCAMSAP1 - 9q34.3 [CytoView hg19]  CAMSAP1 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBICAMSAP1 [Mapview hg19]  CAMSAP1 [Mapview hg38]
OMIM613774   
Gene and transcription
Genbank (Entrez)AF116701 AJ420438 AJ519841 AK025533 AK055790
RefSeq transcript (Entrez)NM_015447
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929368
Consensus coding sequences : CCDS (NCBI)CAMSAP1
Cluster EST : UnigeneHs.522493 [ NCBI ]
CGAP (NCI)Hs.522493
Alternative Splicing GalleryENSG00000130559
Gene ExpressionCAMSAP1 [ NCBI-GEO ]   CAMSAP1 [ EBI - ARRAY_EXPRESS ]   CAMSAP1 [ SEEK ]   CAMSAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAMSAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)157922
GTEX Portal (Tissue expression)CAMSAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T5Y3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T5Y3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T5Y3
Splice isoforms : SwissVarQ5T5Y3
PhosPhoSitePlusQ5T5Y3
Domaine pattern : Prosite (Expaxy)CKK (PS51508)   
Domains : Interpro (EBI)CAMSAP    CAMSAP_CC1    CAMSAP_CH    CH-domain    CKK_domain    PRC_barrel-like   
Domain families : Pfam (Sanger)CAMSAP_CC1 (PF17095)    CAMSAP_CH (PF11971)    CAMSAP_CKK (PF08683)   
Domain families : Pfam (NCBI)pfam17095    pfam11971    pfam08683   
Domain families : Smart (EMBL)CAMSAP_CKK (SM01051)  
Conserved Domain (NCBI)CAMSAP1
DMDM Disease mutations157922
Blocks (Seattle)CAMSAP1
SuperfamilyQ5T5Y3
Human Protein AtlasENSG00000130559
Peptide AtlasQ5T5Y3
HPRD13001
IPIIPI00395444   IPI00647751   IPI00884928   IPI00032269   
Protein Interaction databases
DIP (DOE-UCLA)Q5T5Y3
IntAct (EBI)Q5T5Y3
FunCoupENSG00000130559
BioGRIDCAMSAP1
STRING (EMBL)CAMSAP1
ZODIACCAMSAP1
Ontologies - Pathways
QuickGOQ5T5Y3
Ontology : AmiGOcalmodulin binding  cytoplasm  microtubule  cytoskeleton organization  microtubule binding  regulation of cell morphogenesis  spectrin binding  neuron projection development  neuron projection development  
Ontology : EGO-EBIcalmodulin binding  cytoplasm  microtubule  cytoskeleton organization  microtubule binding  regulation of cell morphogenesis  spectrin binding  neuron projection development  neuron projection development  
NDEx NetworkCAMSAP1
Atlas of Cancer Signalling NetworkCAMSAP1
Wikipedia pathwaysCAMSAP1
Orthology - Evolution
OrthoDB157922
GeneTree (enSembl)ENSG00000130559
Phylogenetic Trees/Animal Genes : TreeFamCAMSAP1
HOVERGENQ5T5Y3
HOGENOMQ5T5Y3
Homologs : HomoloGeneCAMSAP1
Homology/Alignments : Family Browser (UCSC)CAMSAP1
Gene fusions - Rearrangements
Fusion : MitelmanCAMSAP1/KCNT1 [9q34.3/9q34.3]  
Fusion: TCGACAMSAP1 9q34.3 KCNT1 9q34.3 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAMSAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAMSAP1
dbVarCAMSAP1
ClinVarCAMSAP1
1000_GenomesCAMSAP1 
Exome Variant ServerCAMSAP1
ExAC (Exome Aggregation Consortium)CAMSAP1 (select the gene name)
Genetic variants : HAPMAP157922
Genomic Variants (DGV)CAMSAP1 [DGVbeta]
DECIPHER (Syndromes)9:138700333-138799005  ENSG00000130559
CONAN: Copy Number AnalysisCAMSAP1 
Mutations
ICGC Data PortalCAMSAP1 
TCGA Data PortalCAMSAP1 
Broad Tumor PortalCAMSAP1
OASIS PortalCAMSAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAMSAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAMSAP1
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 CAMSAP1
DgiDB (Drug Gene Interaction Database)CAMSAP1
DoCM (Curated mutations)CAMSAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAMSAP1 (select a term)
intoGenCAMSAP1
Cancer3DCAMSAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613774   
Orphanet
MedgenCAMSAP1
Genetic Testing Registry CAMSAP1
NextProtQ5T5Y3 [Medical]
TSGene157922
GENETestsCAMSAP1
Huge Navigator CAMSAP1 [HugePedia]
snp3D : Map Gene to Disease157922
BioCentury BCIQCAMSAP1
ClinGenCAMSAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD157922
Chemical/Pharm GKB GenePA134866541
Clinical trialCAMSAP1
Miscellaneous
canSAR (ICR)CAMSAP1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAMSAP1
EVEXCAMSAP1
GoPubMedCAMSAP1
iHOPCAMSAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:58:37 CET 2017

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