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SIPA1L1 (signal induced proliferation associated 1 like 1)

Identity

Alias_namessignal-induced proliferation-associated 1 like 1
Alias_symbol (synonym)KIAA0440
E6TP1
Other alias
HGNC (Hugo) SIPA1L1
LocusID (NCBI) 26037
Atlas_Id 54619
Location 14q24.2  [Link to chromosome band 14q24]
Location_base_pair Starts at 71529312 and ends at 71741229 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CADPS (3p14.2) / SIPA1L1 (14q24.2)FUT8 (14q23.3) / SIPA1L1 (14q24.2)LOXL3 (2p13.1) / SIPA1L1 (14q24.2)
PTPN21 (14q31.3) / SIPA1L1 (14q24.2)SIPA1L1 (14q24.2) / E2F4 (16q22.1)SIPA1L1 (14q24.2) / EPB41 (1p35.3)
SIPA1L1 (14q24.2) / SIPA1L1 (14q24.2)FUT8 14q23.3 / SIPA1L1 14q24.2

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)SIPA1L1   20284
Cards
Entrez_Gene (NCBI)SIPA1L1  26037  signal induced proliferation associated 1 like 1
AliasesE6TP1
GeneCards (Weizmann)SIPA1L1
Ensembl hg19 (Hinxton)ENSG00000197555 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197555 [Gene_View]  chr14:71529312-71741229 [Contig_View]  SIPA1L1 [Vega]
ICGC DataPortalENSG00000197555
TCGA cBioPortalSIPA1L1
AceView (NCBI)SIPA1L1
Genatlas (Paris)SIPA1L1
WikiGenes26037
SOURCE (Princeton)SIPA1L1
Genetics Home Reference (NIH)SIPA1L1
Genomic and cartography
GoldenPath hg38 (UCSC)SIPA1L1  -     chr14:71529312-71741229 +  14q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIPA1L1  -     14q24.2   [Description]    (hg19-Feb_2009)
EnsemblSIPA1L1 - 14q24.2 [CytoView hg19]  SIPA1L1 - 14q24.2 [CytoView hg38]
Mapping of homologs : NCBISIPA1L1 [Mapview hg19]  SIPA1L1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB007900 AF090989 AF090990 AK094532 AK122930
RefSeq transcript (Entrez)NM_001284245 NM_001284246 NM_001284247 NM_015556
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIPA1L1
Cluster EST : UnigeneHs.654657 [ NCBI ]
CGAP (NCI)Hs.654657
Alternative Splicing GalleryENSG00000197555
Gene ExpressionSIPA1L1 [ NCBI-GEO ]   SIPA1L1 [ EBI - ARRAY_EXPRESS ]   SIPA1L1 [ SEEK ]   SIPA1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)SIPA1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26037
GTEX Portal (Tissue expression)SIPA1L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43166   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43166  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43166
Splice isoforms : SwissVarO43166
PhosPhoSitePlusO43166
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    RAPGAP (PS50085)   
Domains : Interpro (EBI)PDZ    Rap_GAP_dom    SIPA1L1    SIPA1L_C   
Domain families : Pfam (Sanger)Rap_GAP (PF02145)    SPAR_C (PF11881)   
Domain families : Pfam (NCBI)pfam02145    pfam11881   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)SIPA1L1
DMDM Disease mutations26037
Blocks (Seattle)SIPA1L1
SuperfamilyO43166
Human Protein AtlasENSG00000197555
Peptide AtlasO43166
HPRD11559
IPIIPI00413362   IPI00435422   IPI01012639   IPI01026217   IPI01025769   IPI01026564   
Protein Interaction databases
DIP (DOE-UCLA)O43166
IntAct (EBI)O43166
FunCoupENSG00000197555
BioGRIDSIPA1L1
STRING (EMBL)SIPA1L1
ZODIACSIPA1L1
Ontologies - Pathways
QuickGOO43166
Ontology : AmiGOmolecular_function  GTPase activator activity  cellular_component  cytoplasm  cytoskeleton  biological_process  postsynaptic density  cell junction  actin cytoskeleton reorganization  regulation of GTPase activity  dendritic spine  postsynaptic membrane  ephrin receptor binding  ephrin receptor signaling pathway  regulation of synaptic plasticity  regulation of axonogenesis  regulation of small GTPase mediated signal transduction  regulation of dendritic spine morphogenesis  activation of GTPase activity  
Ontology : EGO-EBImolecular_function  GTPase activator activity  cellular_component  cytoplasm  cytoskeleton  biological_process  postsynaptic density  cell junction  actin cytoskeleton reorganization  regulation of GTPase activity  dendritic spine  postsynaptic membrane  ephrin receptor binding  ephrin receptor signaling pathway  regulation of synaptic plasticity  regulation of axonogenesis  regulation of small GTPase mediated signal transduction  regulation of dendritic spine morphogenesis  activation of GTPase activity  
Pathways : KEGGRap1 signaling pathway   
NDEx NetworkSIPA1L1
Atlas of Cancer Signalling NetworkSIPA1L1
Wikipedia pathwaysSIPA1L1
Orthology - Evolution
OrthoDB26037
GeneTree (enSembl)ENSG00000197555
Phylogenetic Trees/Animal Genes : TreeFamSIPA1L1
HOVERGENO43166
HOGENOMO43166
Homologs : HomoloGeneSIPA1L1
Homology/Alignments : Family Browser (UCSC)SIPA1L1
Gene fusions - Rearrangements
Fusion : MitelmanFUT8/SIPA1L1 [14q23.3/14q24.2]  [t(14;14)(q23;q24)]  
Fusion : MitelmanPTPN21/SIPA1L1 [14q31.3/14q24.2]  [t(14;14)(q24;q31)]  
Fusion: TCGAFUT8 14q23.3 SIPA1L1 14q24.2 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIPA1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIPA1L1
dbVarSIPA1L1
ClinVarSIPA1L1
1000_GenomesSIPA1L1 
Exome Variant ServerSIPA1L1
ExAC (Exome Aggregation Consortium)SIPA1L1 (select the gene name)
Genetic variants : HAPMAP26037
Genomic Variants (DGV)SIPA1L1 [DGVbeta]
DECIPHERSIPA1L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIPA1L1 
Mutations
ICGC Data PortalSIPA1L1 
TCGA Data PortalSIPA1L1 
Broad Tumor PortalSIPA1L1
OASIS PortalSIPA1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIPA1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSIPA1L1
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 SIPA1L1
DgiDB (Drug Gene Interaction Database)SIPA1L1
DoCM (Curated mutations)SIPA1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIPA1L1 (select a term)
intoGenSIPA1L1
Cancer3DSIPA1L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenSIPA1L1
Genetic Testing Registry SIPA1L1
NextProtO43166 [Medical]
TSGene26037
GENETestsSIPA1L1
Target ValidationSIPA1L1
Huge Navigator SIPA1L1 [HugePedia]
snp3D : Map Gene to Disease26037
BioCentury BCIQSIPA1L1
ClinGenSIPA1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26037
Chemical/Pharm GKB GenePA134940118
Clinical trialSIPA1L1
Miscellaneous
canSAR (ICR)SIPA1L1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIPA1L1
EVEXSIPA1L1
GoPubMedSIPA1L1
iHOPSIPA1L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:55:33 CEST 2017

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