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EMC1 (ER membrane protein complex subunit 1)

Identity

Alias_namesKIAA0090
KIAA0090
Other aliasCAVIPMR
HGNC (Hugo) EMC1
LocusID (NCBI) 23065
Atlas_Id 41057
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 19215664 and ends at 19251559 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EMC1 (1p36.13) / CAPZB (1p36.13)RPS10 (6p21.31) / EMC1 (1p36.13)

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)EMC1   28957
Cards
Entrez_Gene (NCBI)EMC1  23065  ER membrane protein complex subunit 1
AliasesCAVIPMR; KIAA0090
GeneCards (Weizmann)EMC1
Ensembl hg19 (Hinxton)ENSG00000127463 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127463 [Gene_View]  chr1:19215664-19251559 [Contig_View]  EMC1 [Vega]
ICGC DataPortalENSG00000127463
TCGA cBioPortalEMC1
AceView (NCBI)EMC1
Genatlas (Paris)EMC1
WikiGenes23065
SOURCE (Princeton)EMC1
Genetics Home Reference (NIH)EMC1
Genomic and cartography
GoldenPath hg38 (UCSC)EMC1  -     chr1:19215664-19251559 -  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMC1  -     1p36.13   [Description]    (hg19-Feb_2009)
EnsemblEMC1 - 1p36.13 [CytoView hg19]  EMC1 - 1p36.13 [CytoView hg38]
Mapping of homologs : NCBIEMC1 [Mapview hg19]  EMC1 [Mapview hg38]
OMIM616846   616875   
Gene and transcription
Genbank (Entrez)AF086373 AK025853 AK075563 AK124379 AK124740
RefSeq transcript (Entrez)NM_001271427 NM_001271428 NM_001271429 NM_015047
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMC1
Cluster EST : UnigeneHs.439200 [ NCBI ]
CGAP (NCI)Hs.439200
Alternative Splicing GalleryENSG00000127463
Gene ExpressionEMC1 [ NCBI-GEO ]   EMC1 [ EBI - ARRAY_EXPRESS ]   EMC1 [ SEEK ]   EMC1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23065
GTEX Portal (Tissue expression)EMC1
Human Protein AtlasENSG00000127463-EMC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N766   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N766  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N766
Splice isoforms : SwissVarQ8N766
PhosPhoSitePlusQ8N766
Domains : Interpro (EBI)DUF1620    EMC1    PQQ_repeat    Quinoprotein_ADH-like_fam    Quinoprotein_ADH-like_supfam   
Domain families : Pfam (Sanger)DUF1620 (PF07774)    PQQ_2 (PF13360)   
Domain families : Pfam (NCBI)pfam07774    pfam13360   
Conserved Domain (NCBI)EMC1
DMDM Disease mutations23065
Blocks (Seattle)EMC1
SuperfamilyQ8N766
Human Protein Atlas [tissue]ENSG00000127463-EMC1 [tissue]
Peptide AtlasQ8N766
HPRD08306
IPIIPI00642584   IPI00784543   IPI00645487   IPI00642244   IPI01015468   IPI00945353   IPI00945672   
Protein Interaction databases
DIP (DOE-UCLA)Q8N766
IntAct (EBI)Q8N766
FunCoupENSG00000127463
BioGRIDEMC1
STRING (EMBL)EMC1
ZODIACEMC1
Ontologies - Pathways
QuickGOQ8N766
Ontology : AmiGOintegral component of membrane  protein folding in endoplasmic reticulum  ER membrane protein complex  
Ontology : EGO-EBIintegral component of membrane  protein folding in endoplasmic reticulum  ER membrane protein complex  
NDEx NetworkEMC1
Atlas of Cancer Signalling NetworkEMC1
Wikipedia pathwaysEMC1
Orthology - Evolution
OrthoDB23065
GeneTree (enSembl)ENSG00000127463
Phylogenetic Trees/Animal Genes : TreeFamEMC1
HOVERGENQ8N766
HOGENOMQ8N766
Homologs : HomoloGeneEMC1
Homology/Alignments : Family Browser (UCSC)EMC1
Gene fusions - Rearrangements
Fusion: Tumor Portal EMC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMC1
dbVarEMC1
ClinVarEMC1
1000_GenomesEMC1 
Exome Variant ServerEMC1
ExAC (Exome Aggregation Consortium)ENSG00000127463
GNOMAD BrowserENSG00000127463
Genetic variants : HAPMAP23065
Genomic Variants (DGV)EMC1 [DGVbeta]
DECIPHEREMC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMC1 
Mutations
ICGC Data PortalEMC1 
TCGA Data PortalEMC1 
Broad Tumor PortalEMC1
OASIS PortalEMC1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEMC1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch EMC1
DgiDB (Drug Gene Interaction Database)EMC1
DoCM (Curated mutations)EMC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMC1 (select a term)
intoGenEMC1
Cancer3DEMC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616846    616875   
Orphanet
MedgenEMC1
Genetic Testing Registry EMC1
NextProtQ8N766 [Medical]
TSGene23065
GENETestsEMC1
Target ValidationEMC1
Huge Navigator EMC1 [HugePedia]
snp3D : Map Gene to Disease23065
BioCentury BCIQEMC1
ClinGenEMC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23065
Chemical/Pharm GKB GenePA142671634
Clinical trialEMC1
Miscellaneous
canSAR (ICR)EMC1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMC1
EVEXEMC1
GoPubMedEMC1
iHOPEMC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:48:43 CET 2017

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