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ASTL (astacin like metalloendopeptidase)

Identity

Alias_namesastacin-like metallo-endopeptidase (M12 family)
Alias_symbol (synonym)ovastacin
SAS1B
Other alias
HGNC (Hugo) ASTL
LocusID (NCBI) 431705
Atlas_Id 55882
Location 2q11.1  [Link to chromosome band 2q11]
Location_base_pair Starts at 96789589 and ends at 96804175 bp from pter ( according to hg19-Feb_2009)

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)ASTL   31704
Cards
Entrez_Gene (NCBI)ASTL  431705  astacin like metalloendopeptidase
AliasesSAS1B
GeneCards (Weizmann)ASTL
Ensembl hg19 (Hinxton)ENSG00000188886 [Gene_View]  chr2:96789589-96804175 [Contig_View]  ASTL [Vega]
Ensembl hg38 (Hinxton)ENSG00000188886 [Gene_View]  chr2:96789589-96804175 [Contig_View]  ASTL [Vega]
ICGC DataPortalENSG00000188886
TCGA cBioPortalASTL
AceView (NCBI)ASTL
Genatlas (Paris)ASTL
WikiGenes431705
SOURCE (Princeton)ASTL
Genetics Home Reference (NIH)ASTL
Genomic and cartography
GoldenPath hg19 (UCSC)ASTL  -     chr2:96789589-96804175 -  2q11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ASTL  -     2q11.1   [Description]    (hg38-Dec_2013)
EnsemblASTL - 2q11.1 [CytoView hg19]  ASTL - 2q11.1 [CytoView hg38]
Mapping of homologs : NCBIASTL [Mapview hg19]  ASTL [Mapview hg38]
OMIM608860   
Gene and transcription
Genbank (Entrez)AJ537600 BC107126 BC107127
RefSeq transcript (Entrez)NM_001002036
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASTL
Cluster EST : UnigeneHs.447993 [ NCBI ]
CGAP (NCI)Hs.447993
Alternative Splicing GalleryENSG00000188886
Gene ExpressionASTL [ NCBI-GEO ]   ASTL [ EBI - ARRAY_EXPRESS ]   ASTL [ SEEK ]   ASTL [ MEM ]
Gene Expression Viewer (FireBrowse)ASTL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)431705
GTEX Portal (Tissue expression)ASTL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6HA08   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6HA08  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6HA08
Splice isoforms : SwissVarQ6HA08
Catalytic activity : Enzyme3.4.-.- [ Enzyme-Expasy ]   3.4.-.-3.4.-.- [ IntEnz-EBI ]   3.4.-.- [ BRENDA ]   3.4.-.- [ KEGG ]   
PhosPhoSitePlusQ6HA08
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)MetalloPept_cat_dom    Peptidase_M12A    Peptidase_Metallo   
Domain families : Pfam (Sanger)Astacin (PF01400)   
Domain families : Pfam (NCBI)pfam01400   
Domain families : Smart (EMBL)ZnMc (SM00235)  
Conserved Domain (NCBI)ASTL
DMDM Disease mutations431705
Blocks (Seattle)ASTL
SuperfamilyQ6HA08
Human Protein AtlasENSG00000188886
Peptide AtlasQ6HA08
HPRD16396
IPIIPI00436526   
Protein Interaction databases
DIP (DOE-UCLA)Q6HA08
IntAct (EBI)Q6HA08
FunCoupENSG00000188886
BioGRIDASTL
STRING (EMBL)ASTL
ZODIACASTL
Ontologies - Pathways
QuickGOQ6HA08
Ontology : AmiGOmetalloendopeptidase activity  cytoplasm  plasma membrane  proteolysis  cell adhesion  peptidase activity  zinc ion binding  fertilization  positive regulation of protein processing  transport vesicle  prevention of polyspermy  cortical granule  aspartic-type peptidase activity  glutamic-type peptidase activity  negative regulation of binding of sperm to zona pellucida  
Ontology : EGO-EBImetalloendopeptidase activity  cytoplasm  plasma membrane  proteolysis  cell adhesion  peptidase activity  zinc ion binding  fertilization  positive regulation of protein processing  transport vesicle  prevention of polyspermy  cortical granule  aspartic-type peptidase activity  glutamic-type peptidase activity  negative regulation of binding of sperm to zona pellucida  
NDEx NetworkASTL
Atlas of Cancer Signalling NetworkASTL
Wikipedia pathwaysASTL
Orthology - Evolution
OrthoDB431705
GeneTree (enSembl)ENSG00000188886
Phylogenetic Trees/Animal Genes : TreeFamASTL
HOVERGENQ6HA08
HOGENOMQ6HA08
Homologs : HomoloGeneASTL
Homology/Alignments : Family Browser (UCSC)ASTL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASTL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASTL
dbVarASTL
ClinVarASTL
1000_GenomesASTL 
Exome Variant ServerASTL
ExAC (Exome Aggregation Consortium)ASTL (select the gene name)
Genetic variants : HAPMAP431705
Genomic Variants (DGV)ASTL [DGVbeta]
DECIPHER (Syndromes)2:96789589-96804175  ENSG00000188886
CONAN: Copy Number AnalysisASTL 
Mutations
ICGC Data PortalASTL 
TCGA Data PortalASTL 
Broad Tumor PortalASTL
OASIS PortalASTL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASTL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASTL
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 ASTL
DgiDB (Drug Gene Interaction Database)ASTL
DoCM (Curated mutations)ASTL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASTL (select a term)
intoGenASTL
Cancer3DASTL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608860   
Orphanet
MedgenASTL
Genetic Testing Registry ASTL
NextProtQ6HA08 [Medical]
TSGene431705
GENETestsASTL
Huge Navigator ASTL [HugePedia]
snp3D : Map Gene to Disease431705
BioCentury BCIQASTL
ClinGenASTL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD431705
Chemical/Pharm GKB GenePA134922299
Clinical trialASTL
Miscellaneous
canSAR (ICR)ASTL (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASTL
EVEXASTL
GoPubMedASTL
iHOPASTL
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 12:56:46 CET 2017

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