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KDELC1 (KDEL motif containing 1)

Identity

Alias_namesKDEL (Lys-Asp-Glu-Leu) containing 1
Alias_symbol (synonym)MGC5302
EP58
Other aliasERp58
KDEL1
HGNC (Hugo) KDELC1
LocusID (NCBI) 79070
Atlas_Id 64831
Location 13q33.1  [Link to chromosome band 13q33]
Location_base_pair Starts at 102784281 and ends at 102799054 bp from pter ( according to hg38-Dec_2013)

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)KDELC1   19350
Cards
Entrez_Gene (NCBI)KDELC1  79070  KDEL motif containing 1
AliasesEP58; ERp58; KDEL1
GeneCards (Weizmann)KDELC1
Ensembl hg19 (Hinxton)ENSG00000134901 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134901 [Gene_View]  chr13:102784281-102799054 [Contig_View]  KDELC1 [Vega]
ICGC DataPortalENSG00000134901
TCGA cBioPortalKDELC1
AceView (NCBI)KDELC1
Genatlas (Paris)KDELC1
WikiGenes79070
SOURCE (Princeton)KDELC1
Genetics Home Reference (NIH)KDELC1
Genomic and cartography
GoldenPath hg38 (UCSC)KDELC1  -     chr13:102784281-102799054 -  13q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KDELC1  -     13q33.1   [Description]    (hg19-Feb_2009)
EnsemblKDELC1 - 13q33.1 [CytoView hg19]  KDELC1 - 13q33.1 [CytoView hg38]
Mapping of homologs : NCBIKDELC1 [Mapview hg19]  KDELC1 [Mapview hg38]
OMIM611613   
Gene and transcription
Genbank (Entrez)AK074974 AK222567 AK225103 AK309238 AY358959
RefSeq transcript (Entrez)NM_001318732 NM_024089
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KDELC1
Cluster EST : UnigeneHs.408629 [ NCBI ]
CGAP (NCI)Hs.408629
Alternative Splicing GalleryENSG00000134901
Gene ExpressionKDELC1 [ NCBI-GEO ]   KDELC1 [ EBI - ARRAY_EXPRESS ]   KDELC1 [ SEEK ]   KDELC1 [ MEM ]
Gene Expression Viewer (FireBrowse)KDELC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79070
GTEX Portal (Tissue expression)KDELC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UW63   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UW63  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UW63
Splice isoforms : SwissVarQ6UW63
PhosPhoSitePlusQ6UW63
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    FILAMIN_REPEAT (PS50194)   
Domains : Interpro (EBI)Filamin/ABP280_repeat-like    Filamin/ABP280_rpt    Ig-like_fold    Ig_E-set    LipoPS_modifying   
Domain families : Pfam (Sanger)Filamin (PF00630)    Glyco_transf_90 (PF05686)   
Domain families : Pfam (NCBI)pfam00630    pfam05686   
Domain families : Smart (EMBL)CAP10 (SM00672)  IG_FLMN (SM00557)  
Conserved Domain (NCBI)KDELC1
DMDM Disease mutations79070
Blocks (Seattle)KDELC1
PDB (SRS)2DI7   
PDB (PDBSum)2DI7   
PDB (IMB)2DI7   
PDB (RSDB)2DI7   
Structural Biology KnowledgeBase2DI7   
SCOP (Structural Classification of Proteins)2DI7   
CATH (Classification of proteins structures)2DI7   
SuperfamilyQ6UW63
Human Protein AtlasENSG00000134901
Peptide AtlasQ6UW63
HPRD11061
IPIIPI00005270   
Protein Interaction databases
DIP (DOE-UCLA)Q6UW63
IntAct (EBI)Q6UW63
FunCoupENSG00000134901
BioGRIDKDELC1
STRING (EMBL)KDELC1
ZODIACKDELC1
Ontologies - Pathways
QuickGOQ6UW63
Ontology : AmiGOendoplasmic reticulum lumen  endoplasmic reticulum lumen  glycolipid metabolic process  glucosyltransferase activity  
Ontology : EGO-EBIendoplasmic reticulum lumen  endoplasmic reticulum lumen  glycolipid metabolic process  glucosyltransferase activity  
NDEx NetworkKDELC1
Atlas of Cancer Signalling NetworkKDELC1
Wikipedia pathwaysKDELC1
Orthology - Evolution
OrthoDB79070
GeneTree (enSembl)ENSG00000134901
Phylogenetic Trees/Animal Genes : TreeFamKDELC1
HOVERGENQ6UW63
HOGENOMQ6UW63
Homologs : HomoloGeneKDELC1
Homology/Alignments : Family Browser (UCSC)KDELC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDELC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDELC1
dbVarKDELC1
ClinVarKDELC1
1000_GenomesKDELC1 
Exome Variant ServerKDELC1
ExAC (Exome Aggregation Consortium)KDELC1 (select the gene name)
Genetic variants : HAPMAP79070
Genomic Variants (DGV)KDELC1 [DGVbeta]
DECIPHERKDELC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKDELC1 
Mutations
ICGC Data PortalKDELC1 
TCGA Data PortalKDELC1 
Broad Tumor PortalKDELC1
OASIS PortalKDELC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKDELC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKDELC1
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 KDELC1
DgiDB (Drug Gene Interaction Database)KDELC1
DoCM (Curated mutations)KDELC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDELC1 (select a term)
intoGenKDELC1
Cancer3DKDELC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611613   
Orphanet
MedgenKDELC1
Genetic Testing Registry KDELC1
NextProtQ6UW63 [Medical]
TSGene79070
GENETestsKDELC1
Target ValidationKDELC1
Huge Navigator KDELC1 [HugePedia]
snp3D : Map Gene to Disease79070
BioCentury BCIQKDELC1
ClinGenKDELC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79070
Chemical/Pharm GKB GenePA134974174
Clinical trialKDELC1
Miscellaneous
canSAR (ICR)KDELC1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDELC1
EVEXKDELC1
GoPubMedKDELC1
iHOPKDELC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:54:18 CEST 2017

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