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SPPL3 (signal peptide peptidase like 3)

Identity

Alias_symbol (synonym)IMP2
PSL4
MGC90402
MGC126674
MGC126676
DKFZP586C1324
Other aliasMDHV1887
PRO4332
PSH1
HGNC (Hugo) SPPL3
LocusID (NCBI) 121665
Atlas_Id 74199
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 120762510 and ends at 120904352 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DHFR (5q14.1) / SPPL3 (12q24.31)EP300 (22q13.2) / SPPL3 (12q24.31)SPPL3 (12q24.31) / LUC7L3 (17q21.33)
SPPL3 (12q24.31) / SPPL3 (12q24.31)

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)SPPL3   30424
Cards
Entrez_Gene (NCBI)SPPL3  121665  signal peptide peptidase like 3
AliasesIMP2; MDHV1887; PRO4332; PSH1; 
PSL4
GeneCards (Weizmann)SPPL3
Ensembl hg19 (Hinxton)ENSG00000157837 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157837 [Gene_View]  chr12:120762510-120904352 [Contig_View]  SPPL3 [Vega]
ICGC DataPortalENSG00000157837
TCGA cBioPortalSPPL3
AceView (NCBI)SPPL3
Genatlas (Paris)SPPL3
WikiGenes121665
SOURCE (Princeton)SPPL3
Genetics Home Reference (NIH)SPPL3
Genomic and cartography
GoldenPath hg38 (UCSC)SPPL3  -     chr12:120762510-120904352 -  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPPL3  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblSPPL3 - 12q24.31 [CytoView hg19]  SPPL3 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBISPPL3 [Mapview hg19]  SPPL3 [Mapview hg38]
OMIM608240   
Gene and transcription
Genbank (Entrez)AB252457 AF086117 AI676074 AJ345030 AJ420898
RefSeq transcript (Entrez)NM_139015
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPPL3
Cluster EST : UnigeneHs.683964 [ NCBI ]
CGAP (NCI)Hs.683964
Alternative Splicing GalleryENSG00000157837
Gene ExpressionSPPL3 [ NCBI-GEO ]   SPPL3 [ EBI - ARRAY_EXPRESS ]   SPPL3 [ SEEK ]   SPPL3 [ MEM ]
Gene Expression Viewer (FireBrowse)SPPL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)121665
GTEX Portal (Tissue expression)SPPL3
Human Protein AtlasENSG00000157837-SPPL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCT6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCT6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCT6
Splice isoforms : SwissVarQ8TCT6
Catalytic activity : Enzyme3.4.23.- [ Enzyme-Expasy ]   3.4.23.-3.4.23.- [ IntEnz-EBI ]   3.4.23.- [ BRENDA ]   3.4.23.- [ KEGG ]   
PhosPhoSitePlusQ8TCT6
Domains : Interpro (EBI)Peptidase_A22B_SPP    Preselin/SPP   
Domain families : Pfam (Sanger)Peptidase_A22B (PF04258)   
Domain families : Pfam (NCBI)pfam04258   
Domain families : Smart (EMBL)PSN (SM00730)  
Conserved Domain (NCBI)SPPL3
DMDM Disease mutations121665
Blocks (Seattle)SPPL3
SuperfamilyQ8TCT6
Human Protein Atlas [tissue]ENSG00000157837-SPPL3 [tissue]
Peptide AtlasQ8TCT6
HPRD09744
IPIIPI00152440   IPI00220448   IPI00472181   IPI00432277   IPI00383835   IPI01012088   IPI01012550   IPI01011240   IPI01011625   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCT6
IntAct (EBI)Q8TCT6
FunCoupENSG00000157837
BioGRIDSPPL3
STRING (EMBL)SPPL3
ZODIACSPPL3
Ontologies - Pathways
QuickGOQ8TCT6
Ontology : AmiGOprotein binding  lysosomal membrane  rough endoplasmic reticulum  plasma membrane  membrane protein ectodomain proteolysis  positive regulation of cytosolic calcium ion concentration  membrane  Golgi-associated vesicle membrane  positive regulation of protein binding  endoplasmic reticulum-Golgi intermediate compartment membrane  membrane protein proteolysis  positive regulation of protein dephosphorylation  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  intracellular membrane-bounded organelle  T cell receptor signaling pathway  T cell receptor signaling pathway  positive regulation of NFAT protein import into nucleus  positive regulation of NFAT protein import into nucleus  positive regulation of calcineurin-NFAT signaling cascade  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIprotein binding  lysosomal membrane  rough endoplasmic reticulum  plasma membrane  membrane protein ectodomain proteolysis  positive regulation of cytosolic calcium ion concentration  membrane  Golgi-associated vesicle membrane  positive regulation of protein binding  endoplasmic reticulum-Golgi intermediate compartment membrane  membrane protein proteolysis  positive regulation of protein dephosphorylation  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  intracellular membrane-bounded organelle  T cell receptor signaling pathway  T cell receptor signaling pathway  positive regulation of NFAT protein import into nucleus  positive regulation of NFAT protein import into nucleus  positive regulation of calcineurin-NFAT signaling cascade  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  
NDEx NetworkSPPL3
Atlas of Cancer Signalling NetworkSPPL3
Wikipedia pathwaysSPPL3
Orthology - Evolution
OrthoDB121665
GeneTree (enSembl)ENSG00000157837
Phylogenetic Trees/Animal Genes : TreeFamSPPL3
HOVERGENQ8TCT6
HOGENOMQ8TCT6
Homologs : HomoloGeneSPPL3
Homology/Alignments : Family Browser (UCSC)SPPL3
Gene fusions - Rearrangements
Fusion: Tumor Portal SPPL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPPL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPPL3
dbVarSPPL3
ClinVarSPPL3
1000_GenomesSPPL3 
Exome Variant ServerSPPL3
ExAC (Exome Aggregation Consortium)ENSG00000157837
GNOMAD BrowserENSG00000157837
Genetic variants : HAPMAP121665
Genomic Variants (DGV)SPPL3 [DGVbeta]
DECIPHERSPPL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPPL3 
Mutations
ICGC Data PortalSPPL3 
TCGA Data PortalSPPL3 
Broad Tumor PortalSPPL3
OASIS PortalSPPL3 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSPPL3
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 SPPL3
DgiDB (Drug Gene Interaction Database)SPPL3
DoCM (Curated mutations)SPPL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPPL3 (select a term)
intoGenSPPL3
Cancer3DSPPL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608240   
Orphanet
MedgenSPPL3
Genetic Testing Registry SPPL3
NextProtQ8TCT6 [Medical]
TSGene121665
GENETestsSPPL3
Target ValidationSPPL3
Huge Navigator SPPL3 [HugePedia]
snp3D : Map Gene to Disease121665
BioCentury BCIQSPPL3
ClinGenSPPL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD121665
Chemical/Pharm GKB GenePA166049000
Clinical trialSPPL3
Miscellaneous
canSAR (ICR)SPPL3 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPPL3
EVEXSPPL3
GoPubMedSPPL3
iHOPSPPL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:30:53 CET 2017

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