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MCTP1 (multiple C2 domains, transmembrane 1)

Identity

Alias_namesmultiple C2 domains, transmembrane 1
Alias_symbol (synonym)FLJ22344
Other alias-
HGNC (Hugo) MCTP1
LocusID (NCBI) 79772
Atlas_Id 68855
Location 5q15  [Link to chromosome band 5q15]
Location_base_pair Starts at 94041242 and ends at 94417570 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KIAA0825 (5q15) / MCTP1 (5q15)MCTP1 (5q15) / CBLB (3q13.11)MCTP1 (5q15) / MBD5 (2q23.1)
MCTP1 (5q15) / MCTP1 (5q15)MCTP1 (5q15) / TYW3 (1p31.1)PDE4D (5q11.2) / MCTP1 (5q15)
PDE4D MCTP1KIAA0825 MCTP1

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)MCTP1   26183
Cards
Entrez_Gene (NCBI)MCTP1  79772  multiple C2 domains, transmembrane 1
Aliases
GeneCards (Weizmann)MCTP1
Ensembl hg19 (Hinxton)ENSG00000175471 [Gene_View]  chr5:94041242-94417570 [Contig_View]  MCTP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000175471 [Gene_View]  chr5:94041242-94417570 [Contig_View]  MCTP1 [Vega]
ICGC DataPortalENSG00000175471
TCGA cBioPortalMCTP1
AceView (NCBI)MCTP1
Genatlas (Paris)MCTP1
WikiGenes79772
SOURCE (Princeton)MCTP1
Genetics Home Reference (NIH)MCTP1
Genomic and cartography
GoldenPath hg19 (UCSC)MCTP1  -     chr5:94041242-94417570 -  5q15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MCTP1  -     5q15   [Description]    (hg38-Dec_2013)
EnsemblMCTP1 - 5q15 [CytoView hg19]  MCTP1 - 5q15 [CytoView hg38]
Mapping of homologs : NCBIMCTP1 [Mapview hg19]  MCTP1 [Mapview hg38]
OMIM616296   
Gene and transcription
Genbank (Entrez)AK025997 AK057694 AK058012 AK091330 AK097929
RefSeq transcript (Entrez)NM_001002796 NM_001297777 NM_024717
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)MCTP1
Cluster EST : UnigeneHs.655087 [ NCBI ]
CGAP (NCI)Hs.655087
Alternative Splicing GalleryENSG00000175471
Gene ExpressionMCTP1 [ NCBI-GEO ]   MCTP1 [ EBI - ARRAY_EXPRESS ]   MCTP1 [ SEEK ]   MCTP1 [ MEM ]
Gene Expression Viewer (FireBrowse)MCTP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79772
GTEX Portal (Tissue expression)MCTP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6DN14   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6DN14  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6DN14
Splice isoforms : SwissVarQ6DN14
PhosPhoSitePlusQ6DN14
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    PRibTrfase_C   
Domain families : Pfam (Sanger)C2 (PF00168)    PRT_C (PF08372)   
Domain families : Pfam (NCBI)pfam00168    pfam08372   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)MCTP1
DMDM Disease mutations79772
Blocks (Seattle)MCTP1
SuperfamilyQ6DN14
Human Protein AtlasENSG00000175471
Peptide AtlasQ6DN14
HPRD08652
IPIIPI00431791   IPI00436228   IPI00187082   IPI00852937   IPI00853029   IPI00922905   IPI00964155   IPI00967078   IPI00967907   IPI00966803   IPI00968124   IPI00964059   IPI00967224   IPI00979848   
Protein Interaction databases
DIP (DOE-UCLA)Q6DN14
IntAct (EBI)Q6DN14
FunCoupENSG00000175471
BioGRIDMCTP1
STRING (EMBL)MCTP1
ZODIACMCTP1
Ontologies - Pathways
QuickGOQ6DN14
Ontology : AmiGOcalcium ion binding  calcium-dependent phospholipid binding  intracellular  integral component of membrane  calcium-mediated signaling  
Ontology : EGO-EBIcalcium ion binding  calcium-dependent phospholipid binding  intracellular  integral component of membrane  calcium-mediated signaling  
NDEx NetworkMCTP1
Atlas of Cancer Signalling NetworkMCTP1
Wikipedia pathwaysMCTP1
Orthology - Evolution
OrthoDB79772
GeneTree (enSembl)ENSG00000175471
Phylogenetic Trees/Animal Genes : TreeFamMCTP1
HOVERGENQ6DN14
HOGENOMQ6DN14
Homologs : HomoloGeneMCTP1
Homology/Alignments : Family Browser (UCSC)MCTP1
Gene fusions - Rearrangements
Fusion: TCGAPDE4D MCTP1
Fusion: TCGAKIAA0825 MCTP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCTP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCTP1
dbVarMCTP1
ClinVarMCTP1
1000_GenomesMCTP1 
Exome Variant ServerMCTP1
ExAC (Exome Aggregation Consortium)MCTP1 (select the gene name)
Genetic variants : HAPMAP79772
Genomic Variants (DGV)MCTP1 [DGVbeta]
DECIPHER (Syndromes)5:94041242-94417570  ENSG00000175471
CONAN: Copy Number AnalysisMCTP1 
Mutations
ICGC Data PortalMCTP1 
TCGA Data PortalMCTP1 
Broad Tumor PortalMCTP1
OASIS PortalMCTP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCTP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCTP1
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 MCTP1
DgiDB (Drug Gene Interaction Database)MCTP1
DoCM (Curated mutations)MCTP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCTP1 (select a term)
intoGenMCTP1
Cancer3DMCTP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616296   
Orphanet
MedgenMCTP1
Genetic Testing Registry MCTP1
NextProtQ6DN14 [Medical]
TSGene79772
GENETestsMCTP1
Huge Navigator MCTP1 [HugePedia]
snp3D : Map Gene to Disease79772
BioCentury BCIQMCTP1
ClinGenMCTP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79772
Chemical/Pharm GKB GenePA142671472
Clinical trialMCTP1
Miscellaneous
canSAR (ICR)MCTP1 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCTP1
EVEXMCTP1
GoPubMedMCTP1
iHOPMCTP1
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 12:27:53 CET 2017

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