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RPP14 (hydroxyacyl-thioester dehydratase type 2, mitochondrial)

Identity

Alias_namesribonuclease P 14kDa subunit
ribonuclease P/MRP 14kDa subunit
Alias_symbol (synonym)P14
Other aliasHsHTD2
HGNC (Hugo) -
LocusID (NCBI) 11102
Atlas_Id 72841
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 58306245 and ends at 58320193 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PXK (3p14.3) / RPP14 (3p14.3)RPP14 (3p14.3) / ABHD6 (3p14.3)RPP14 (3p14.3) / C14orf37 (14q23.1)
RPP14 (3p14.3) / STK11 (19p13.3)

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)-   -
Cards
Entrez_Gene (NCBI)RPP14  11102  hydroxyacyl-thioester dehydratase type 2, mitochondrial
AliasesHsHTD2
GeneCards (Weizmann)RPP14
Ensembl hg19 (Hinxton)ENSG00000163684 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163684 [Gene_View]  chr3:58306245-58320193 [Contig_View]  RPP14 [Vega]
ICGC DataPortalENSG00000163684
TCGA cBioPortalRPP14
AceView (NCBI)RPP14
Genatlas (Paris)RPP14
WikiGenes11102
SOURCE (Princeton)RPP14
Genetics Home Reference (NIH)RPP14
Genomic and cartography
GoldenPath hg38 (UCSC)RPP14  -     chr3:58306245-58320193 +  3p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPP14  -     3p14.3   [Description]    (hg19-Feb_2009)
EnsemblRPP14 - 3p14.3 [CytoView hg19]  RPP14 - 3p14.3 [CytoView hg38]
Mapping of homologs : NCBIRPP14 [Mapview hg19]  RPP14 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK311396 AV760694 BP352444 CD698741 DC303206
RefSeq transcript (Entrez)NM_001348712 NM_001348713 NM_001348714 NM_001348715
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPP14
Cluster EST : UnigeneHs.446320 [ NCBI ]
CGAP (NCI)Hs.446320
Alternative Splicing GalleryENSG00000163684
Gene ExpressionRPP14 [ NCBI-GEO ]   RPP14 [ EBI - ARRAY_EXPRESS ]   RPP14 [ SEEK ]   RPP14 [ MEM ]
Gene Expression Viewer (FireBrowse)RPP14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11102
GTEX Portal (Tissue expression)RPP14
Protein : pattern, domain, 3D structure
UniProt/SwissProtP86397   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP86397  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP86397
Splice isoforms : SwissVarP86397
Catalytic activity : Enzyme4.2.1.- [ Enzyme-Expasy ]   4.2.1.-4.2.1.- [ IntEnz-EBI ]   4.2.1.- [ BRENDA ]   4.2.1.- [ KEGG ]   
PhosPhoSitePlusP86397
Domains : Interpro (EBI)HotDog_dom    MaoC_dom   
Domain families : Pfam (Sanger)MaoC_dehydratas (PF01575)   
Domain families : Pfam (NCBI)pfam01575   
Conserved Domain (NCBI)RPP14
DMDM Disease mutations11102
Blocks (Seattle)RPP14
PDB (SRS)3IR3   
PDB (PDBSum)3IR3   
PDB (IMB)3IR3   
PDB (RSDB)3IR3   
Structural Biology KnowledgeBase3IR3   
SCOP (Structural Classification of Proteins)3IR3   
CATH (Classification of proteins structures)3IR3   
SuperfamilyP86397
Human Protein AtlasENSG00000163684
Peptide AtlasP86397
HPRD18001
Protein Interaction databases
DIP (DOE-UCLA)P86397
IntAct (EBI)P86397
FunCoupENSG00000163684
BioGRIDRPP14
STRING (EMBL)RPP14
ZODIACRPP14
Ontologies - Pathways
QuickGOP86397
Ontology : AmiGOnucleolus  mitochondrion  fatty acid metabolic process  lyase activity  
Ontology : EGO-EBInucleolus  mitochondrion  fatty acid metabolic process  lyase activity  
Pathways : KEGGRNA transport   
NDEx NetworkRPP14
Atlas of Cancer Signalling NetworkRPP14
Wikipedia pathwaysRPP14
Orthology - Evolution
OrthoDB11102
GeneTree (enSembl)ENSG00000163684
Phylogenetic Trees/Animal Genes : TreeFam-
HOVERGENP86397
HOGENOMP86397
Homologs : HomoloGeneRPP14
Homology/Alignments : Family Browser (UCSC)RPP14
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPP14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPP14
dbVarRPP14
ClinVarRPP14
1000_GenomesRPP14 
Exome Variant ServerRPP14
ExAC (Exome Aggregation Consortium)RPP14 (select the gene name)
Genetic variants : HAPMAP11102
Genomic Variants (DGV)RPP14 [DGVbeta]
DECIPHERRPP14 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPP14 
Mutations
ICGC Data Portal- 
TCGA Data Portal- 
Broad Tumor Portal-
OASIS Portal- [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPP14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMD-
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RPP14
DgiDB (Drug Gene Interaction Database)RPP14
DoCM (Curated mutations)RPP14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPP14 (select a term)
intoGenRPP14
Cancer3DRPP14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenRPP14
Genetic Testing Registry RPP14
NextProtP86397 [Medical]
TSGene11102
GENETestsRPP14
Target ValidationRPP14
Huge Navigator - [HugePedia]
snp3D : Map Gene to Disease11102
BioCentury BCIQRPP14
ClinGenRPP14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11102
Clinical trialRPP14
Miscellaneous
canSAR (ICR)RPP14 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPP14
EVEXRPP14
GoPubMedRPP14
iHOPRPP14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:39:23 CEST 2017

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