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PELP1 (proline, glutamate and leucine rich protein 1)

Identity

Alias_namesproline
Alias_symbol (synonym)MNAR
Other aliasP160
HGNC (Hugo) PELP1
LocusID (NCBI) 27043
Atlas_Id 45632
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4574679 and ends at 4607632 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ITIH5 (10p14) / PELP1 (17p13.2)

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)PELP1   30134
Cards
Entrez_Gene (NCBI)PELP1  27043  proline, glutamate and leucine rich protein 1
AliasesMNAR; P160
GeneCards (Weizmann)PELP1
Ensembl hg19 (Hinxton)ENSG00000141456 [Gene_View]  chr17:4574679-4607632 [Contig_View]  PELP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000141456 [Gene_View]  chr17:4574679-4607632 [Contig_View]  PELP1 [Vega]
ICGC DataPortalENSG00000141456
TCGA cBioPortalPELP1
AceView (NCBI)PELP1
Genatlas (Paris)PELP1
WikiGenes27043
SOURCE (Princeton)PELP1
Genetics Home Reference (NIH)PELP1
Genomic and cartography
GoldenPath hg19 (UCSC)PELP1  -     chr17:4574679-4607632 -  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PELP1  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblPELP1 - 17p13.2 [CytoView hg19]  PELP1 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIPELP1 [Mapview hg19]  PELP1 [Mapview hg38]
OMIM609455   
Gene and transcription
Genbank (Entrez)AF547989 AI927300 AK226056 AK291163 AK293838
RefSeq transcript (Entrez)NM_001278241 NM_014389
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)PELP1
Cluster EST : UnigeneHs.744899 [ NCBI ]
CGAP (NCI)Hs.744899
Alternative Splicing GalleryENSG00000141456
Gene ExpressionPELP1 [ NCBI-GEO ]   PELP1 [ EBI - ARRAY_EXPRESS ]   PELP1 [ SEEK ]   PELP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PELP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27043
GTEX Portal (Tissue expression)PELP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZL8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZL8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZL8
Splice isoforms : SwissVarQ8IZL8
PhosPhoSitePlusQ8IZL8
Domains : Interpro (EBI)ARM-type_fold    PELP1    RIX1_N    Uncharacterised_NUC202   
Domain families : Pfam (Sanger)NUC202 (PF08166)    RIX1 (PF08167)   
Domain families : Pfam (NCBI)pfam08166    pfam08167   
Conserved Domain (NCBI)PELP1
DMDM Disease mutations27043
Blocks (Seattle)PELP1
SuperfamilyQ8IZL8
Human Protein AtlasENSG00000141456
Peptide AtlasQ8IZL8
HPRD10144
IPIIPI00787089   IPI00006702   IPI00953543   IPI00178047   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZL8
IntAct (EBI)Q8IZL8
FunCoupENSG00000141456
BioGRIDPELP1
STRING (EMBL)PELP1
ZODIACPELP1
Ontologies - Pathways
QuickGOQ8IZL8
Ontology : AmiGOchromatin binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  transcription, DNA-templated  rRNA processing  transcription factor binding  membrane  transcriptionally active chromatin  poly(A) RNA binding  positive regulation of transcription from RNA polymerase II promoter  MLL1 complex  cellular response to estrogen stimulus  
Ontology : EGO-EBIchromatin binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  transcription, DNA-templated  rRNA processing  transcription factor binding  membrane  transcriptionally active chromatin  poly(A) RNA binding  positive regulation of transcription from RNA polymerase II promoter  MLL1 complex  cellular response to estrogen stimulus  
Pathways : BIOCARTACARM1 and Regulation of the Estrogen Receptor [Genes]    Pelp1 Modulation of Estrogen Receptor Activity [Genes]   
NDEx NetworkPELP1
Atlas of Cancer Signalling NetworkPELP1
Wikipedia pathwaysPELP1
Orthology - Evolution
OrthoDB27043
GeneTree (enSembl)ENSG00000141456
Phylogenetic Trees/Animal Genes : TreeFamPELP1
HOVERGENQ8IZL8
HOGENOMQ8IZL8
Homologs : HomoloGenePELP1
Homology/Alignments : Family Browser (UCSC)PELP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPELP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PELP1
dbVarPELP1
ClinVarPELP1
1000_GenomesPELP1 
Exome Variant ServerPELP1
ExAC (Exome Aggregation Consortium)PELP1 (select the gene name)
Genetic variants : HAPMAP27043
Genomic Variants (DGV)PELP1 [DGVbeta]
DECIPHER (Syndromes)17:4574679-4607632  ENSG00000141456
CONAN: Copy Number AnalysisPELP1 
Mutations
ICGC Data PortalPELP1 
TCGA Data PortalPELP1 
Broad Tumor PortalPELP1
OASIS PortalPELP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPELP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPELP1
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 PELP1
DgiDB (Drug Gene Interaction Database)PELP1
DoCM (Curated mutations)PELP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PELP1 (select a term)
intoGenPELP1
Cancer3DPELP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609455   
Orphanet
MedgenPELP1
Genetic Testing Registry PELP1
NextProtQ8IZL8 [Medical]
TSGene27043
GENETestsPELP1
Huge Navigator PELP1 [HugePedia]
snp3D : Map Gene to Disease27043
BioCentury BCIQPELP1
ClinGenPELP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27043
Chemical/Pharm GKB GenePA142671186
Clinical trialPELP1
Miscellaneous
canSAR (ICR)PELP1 (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePELP1
EVEXPELP1
GoPubMedPELP1
iHOPPELP1
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 13:20:59 CET 2017

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