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PEF1 (penta-EF-hand domain containing 1)

Identity

Alias_symbol (synonym)PEF1A
Other aliasABP32
HGNC (Hugo) PEF1
LocusID (NCBI) 553115
Atlas_Id 71824
Location 1p35.2  [Link to chromosome band 1p35]
Location_base_pair Starts at 31629862 and ends at 31645237 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NUDC (1p36.11) / PEF1 (1p35.2)

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)PEF1   30009
Cards
Entrez_Gene (NCBI)PEF1  553115  penta-EF-hand domain containing 1
AliasesABP32; PEF1A
GeneCards (Weizmann)PEF1
Ensembl hg19 (Hinxton)ENSG00000162517 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162517 [Gene_View]  chr1:31629862-31645237 [Contig_View]  PEF1 [Vega]
ICGC DataPortalENSG00000162517
TCGA cBioPortalPEF1
AceView (NCBI)PEF1
Genatlas (Paris)PEF1
WikiGenes553115
SOURCE (Princeton)PEF1
Genetics Home Reference (NIH)PEF1
Genomic and cartography
GoldenPath hg38 (UCSC)PEF1  -     chr1:31629862-31645237 -  1p35.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEF1  -     1p35.2   [Description]    (hg19-Feb_2009)
EnsemblPEF1 - 1p35.2 [CytoView hg19]  PEF1 - 1p35.2 [CytoView hg38]
Mapping of homologs : NCBIPEF1 [Mapview hg19]  PEF1 [Mapview hg38]
OMIM610033   
Gene and transcription
Genbank (Entrez)AB018357 AB026628 AK001420 AK092483 AK301226
RefSeq transcript (Entrez)NM_012392
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEF1
Cluster EST : UnigeneHs.470417 [ NCBI ]
CGAP (NCI)Hs.470417
Alternative Splicing GalleryENSG00000162517
Gene ExpressionPEF1 [ NCBI-GEO ]   PEF1 [ EBI - ARRAY_EXPRESS ]   PEF1 [ SEEK ]   PEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)PEF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)553115
GTEX Portal (Tissue expression)PEF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBV8
Splice isoforms : SwissVarQ9UBV8
PhosPhoSitePlusQ9UBV8
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_6 (PF13405)    EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13405    pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)PEF1
DMDM Disease mutations553115
Blocks (Seattle)PEF1
SuperfamilyQ9UBV8
Human Protein AtlasENSG00000162517
Peptide AtlasQ9UBV8
HPRD10143
IPIIPI00018235   IPI00909457   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBV8
IntAct (EBI)Q9UBV8
FunCoupENSG00000162517
BioGRIDPEF1
STRING (EMBL)PEF1
ZODIACPEF1
Ontologies - Pathways
QuickGOQ9UBV8
Ontology : AmiGOGolgi membrane  RNA binding  calcium-dependent cysteine-type endopeptidase activity  calcium ion binding  protein binding  cytoplasm  endoplasmic reticulum  proteolysis  ER to Golgi vesicle-mediated transport  neural crest formation  neural crest cell development  COPII vesicle coat  Cul3-RING ubiquitin ligase complex  protein heterodimerization activity  protein dimerization activity  COPII vesicle coating  calcium-dependent protein binding  response to calcium ion  binding, bridging  extracellular exosome  positive regulation of protein monoubiquitination  
Ontology : EGO-EBIGolgi membrane  RNA binding  calcium-dependent cysteine-type endopeptidase activity  calcium ion binding  protein binding  cytoplasm  endoplasmic reticulum  proteolysis  ER to Golgi vesicle-mediated transport  neural crest formation  neural crest cell development  COPII vesicle coat  Cul3-RING ubiquitin ligase complex  protein heterodimerization activity  protein dimerization activity  COPII vesicle coating  calcium-dependent protein binding  response to calcium ion  binding, bridging  extracellular exosome  positive regulation of protein monoubiquitination  
NDEx NetworkPEF1
Atlas of Cancer Signalling NetworkPEF1
Wikipedia pathwaysPEF1
Orthology - Evolution
OrthoDB553115
GeneTree (enSembl)ENSG00000162517
Phylogenetic Trees/Animal Genes : TreeFamPEF1
HOVERGENQ9UBV8
HOGENOMQ9UBV8
Homologs : HomoloGenePEF1
Homology/Alignments : Family Browser (UCSC)PEF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEF1
dbVarPEF1
ClinVarPEF1
1000_GenomesPEF1 
Exome Variant ServerPEF1
ExAC (Exome Aggregation Consortium)PEF1 (select the gene name)
Genetic variants : HAPMAP553115
Genomic Variants (DGV)PEF1 [DGVbeta]
DECIPHERPEF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEF1 
Mutations
ICGC Data PortalPEF1 
TCGA Data PortalPEF1 
Broad Tumor PortalPEF1
OASIS PortalPEF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PEF1
DgiDB (Drug Gene Interaction Database)PEF1
DoCM (Curated mutations)PEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEF1 (select a term)
intoGenPEF1
Cancer3DPEF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610033   
Orphanet
MedgenPEF1
Genetic Testing Registry PEF1
NextProtQ9UBV8 [Medical]
TSGene553115
GENETestsPEF1
Target ValidationPEF1
Huge Navigator PEF1 [HugePedia]
snp3D : Map Gene to Disease553115
BioCentury BCIQPEF1
ClinGenPEF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD553115
Chemical/Pharm GKB GenePA142671184
Clinical trialPEF1
Miscellaneous
canSAR (ICR)PEF1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEF1
EVEXPEF1
GoPubMedPEF1
iHOPPEF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:19 CEST 2017

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