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PLEKHM1 (pleckstrin homology and RUN domain containing M1)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)KIAA0356
Other aliasAP162
B2
OPTB6
HGNC (Hugo) PLEKHM1
LocusID (NCBI) 9842
Atlas_Id 56569
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 45435900 and ends at 45490780 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PLEKHM1 (17q21.31) / KCNN4 (19q13.31)

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)PLEKHM1   29017
Cards
Entrez_Gene (NCBI)PLEKHM1  9842  pleckstrin homology and RUN domain containing M1
AliasesAP162; B2; OPTB6
GeneCards (Weizmann)PLEKHM1
Ensembl hg19 (Hinxton)ENSG00000225190 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000225190 [Gene_View]  chr17:45435900-45490780 [Contig_View]  PLEKHM1 [Vega]
ICGC DataPortalENSG00000225190
TCGA cBioPortalPLEKHM1
AceView (NCBI)PLEKHM1
Genatlas (Paris)PLEKHM1
WikiGenes9842
SOURCE (Princeton)PLEKHM1
Genetics Home Reference (NIH)PLEKHM1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHM1  -     chr17:45435900-45490780 -  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHM1  -     17q21.31   [Description]    (hg19-Feb_2009)
EnsemblPLEKHM1 - 17q21.31 [CytoView hg19]  PLEKHM1 - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIPLEKHM1 [Mapview hg19]  PLEKHM1 [Mapview hg38]
OMIM611466   611497   
Gene and transcription
Genbank (Entrez)AB002354 AJ002220 AK025379 AK074103 AK299116
RefSeq transcript (Entrez)NM_014798
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_012932 NT_167251 NT_187663
Consensus coding sequences : CCDS (NCBI)PLEKHM1
Cluster EST : UnigeneHs.514242 [ NCBI ]
CGAP (NCI)Hs.514242
Alternative Splicing GalleryENSG00000225190
Gene ExpressionPLEKHM1 [ NCBI-GEO ]   PLEKHM1 [ EBI - ARRAY_EXPRESS ]   PLEKHM1 [ SEEK ]   PLEKHM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9842
GTEX Portal (Tissue expression)PLEKHM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4G2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4G2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4G2
Splice isoforms : SwissVarQ9Y4G2
PhosPhoSitePlusQ9Y4G2
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RUN (PS50826)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)PE/DAG-bd    PH_dom-like    PH_domain    Run_dom    Zf-RING_9   
Domain families : Pfam (Sanger)RUN (PF02759)    zf-RING_9 (PF13901)   
Domain families : Pfam (NCBI)pfam02759    pfam13901   
Domain families : Smart (EMBL)C1 (SM00109)  DUF4206 (SM01175)  PH (SM00233)  RUN (SM00593)  
Conserved Domain (NCBI)PLEKHM1
DMDM Disease mutations9842
Blocks (Seattle)PLEKHM1
PDB (SRS)5DPR    5DPW   
PDB (PDBSum)5DPR    5DPW   
PDB (IMB)5DPR    5DPW   
PDB (RSDB)5DPR    5DPW   
Structural Biology KnowledgeBase5DPR    5DPW   
SCOP (Structural Classification of Proteins)5DPR    5DPW   
CATH (Classification of proteins structures)5DPR    5DPW   
SuperfamilyQ9Y4G2
Human Protein AtlasENSG00000225190
Peptide AtlasQ9Y4G2
HPRD11439
IPIIPI00000764   IPI00982243   IPI00816160   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4G2
IntAct (EBI)Q9Y4G2
FunCoupENSG00000225190
BioGRIDPLEKHM1
STRING (EMBL)PLEKHM1
ZODIACPLEKHM1
Ontologies - Pathways
QuickGOQ9Y4G2
Ontology : AmiGOnucleolus  lysosome  lysosomal membrane  autophagy  endosome membrane  protein transport  intracellular signal transduction  intracellular membrane-bounded organelle  metal ion binding  
Ontology : EGO-EBInucleolus  lysosome  lysosomal membrane  autophagy  endosome membrane  protein transport  intracellular signal transduction  intracellular membrane-bounded organelle  metal ion binding  
NDEx NetworkPLEKHM1
Atlas of Cancer Signalling NetworkPLEKHM1
Wikipedia pathwaysPLEKHM1
Orthology - Evolution
OrthoDB9842
GeneTree (enSembl)ENSG00000225190
Phylogenetic Trees/Animal Genes : TreeFamPLEKHM1
HOVERGENQ9Y4G2
HOGENOMQ9Y4G2
Homologs : HomoloGenePLEKHM1
Homology/Alignments : Family Browser (UCSC)PLEKHM1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHM1
dbVarPLEKHM1
ClinVarPLEKHM1
1000_GenomesPLEKHM1 
Exome Variant ServerPLEKHM1
ExAC (Exome Aggregation Consortium)PLEKHM1 (select the gene name)
Genetic variants : HAPMAP9842
Genomic Variants (DGV)PLEKHM1 [DGVbeta]
DECIPHERPLEKHM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHM1 
Mutations
ICGC Data PortalPLEKHM1 
TCGA Data PortalPLEKHM1 
Broad Tumor PortalPLEKHM1
OASIS PortalPLEKHM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHM1
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 PLEKHM1
DgiDB (Drug Gene Interaction Database)PLEKHM1
DoCM (Curated mutations)PLEKHM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHM1 (select a term)
intoGenPLEKHM1
Cancer3DPLEKHM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611466    611497   
Orphanet18682   
MedgenPLEKHM1
Genetic Testing Registry PLEKHM1
NextProtQ9Y4G2 [Medical]
TSGene9842
GENETestsPLEKHM1
Target ValidationPLEKHM1
Huge Navigator PLEKHM1 [HugePedia]
snp3D : Map Gene to Disease9842
BioCentury BCIQPLEKHM1
ClinGenPLEKHM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9842
Chemical/Pharm GKB GenePA134906881
Clinical trialPLEKHM1
Miscellaneous
canSAR (ICR)PLEKHM1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHM1
EVEXPLEKHM1
GoPubMedPLEKHM1
iHOPPLEKHM1
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 14:03:36 CEST 2017

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