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ASTL (astacin like metalloendopeptidase)

Identity

Alias (NCBI)SAS1B
HGNC (Hugo) ASTL
HGNC Alias symbovastacin
SAS1B
HGNC Alias namesperm acrosomal SLLP1 binding
HGNC Previous nameastacin-like metallo-endopeptidase (M12 family)
LocusID (NCBI) 431705
Atlas_Id 55882
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 96123850 and ends at 96138436 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)

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    astacin like metalloendopeptidase
AliasesSAS1B
GeneCards (Weizmann)ASTL
Ensembl hg19 (Hinxton)ENSG00000188886 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188886 [Gene_View]  ENSG00000188886 [Sequence]  chr2:96123850-96138436 [Contig_View]  ASTL [Vega]
ICGC DataPortalENSG00000188886
TCGA cBioPortalASTL
AceView (NCBI)ASTL
Genatlas (Paris)ASTL
SOURCE (Princeton)ASTL
Genetics Home Reference (NIH)ASTL
Genomic and cartography
GoldenPath hg38 (UCSC)ASTL  -     chr2:96123850-96138436 -  2q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASTL  -     2q11.2   [Description]    (hg19-Feb_2009)
GoldenPathASTL - 2q11.2 [CytoView hg19]  ASTL - 2q11.2 [CytoView hg38]
ImmunoBaseENSG00000188886
genome Data Viewer NCBIASTL [Mapview hg19]  
OMIM608860   
Gene and transcription
Genbank (Entrez)AJ537600 BC107126 BC107127
RefSeq transcript (Entrez)NM_001002036
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASTL
Alternative Splicing GalleryENSG00000188886
Gene ExpressionASTL [ NCBI-GEO ]   ASTL [ EBI - ARRAY_EXPRESS ]   ASTL [ SEEK ]   ASTL [ MEM ]
Gene Expression Viewer (FireBrowse)ASTL [ Firebrowse - Broad ]
GenevisibleExpression of ASTL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)431705
GTEX Portal (Tissue expression)ASTL
Human Protein AtlasENSG00000188886-ASTL [pathology]   [cell]   [tissue]
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 ]   [ MEROPS ]
PhosPhoSitePlusQ6HA08
Domaine pattern : Prosite (Expaxy)ASTACIN (PS51864)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)MetalloPept_cat_dom_sf    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
Blocks (Seattle)ASTL
SuperfamilyQ6HA08
Human Protein Atlas [tissue]ENSG00000188886-ASTL [tissue]
Peptide AtlasQ6HA08
HPRD16396
IPIIPI00436526   
Protein Interaction databases
DIP (DOE-UCLA)Q6HA08
IntAct (EBI)Q6HA08
BioGRIDASTL
STRING (EMBL)ASTL
ZODIACASTL
Ontologies - Pathways
QuickGOQ6HA08
Ontology : AmiGOmetalloendopeptidase activity  protein binding  cytoplasm  plasma membrane  proteolysis  cell adhesion  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  protein binding  cytoplasm  plasma membrane  proteolysis  cell adhesion  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
HOGENOMQ6HA08
Homologs : HomoloGeneASTL
Homology/Alignments : Family Browser (UCSC)ASTL
Gene fusions - Rearrangements
Fusion : QuiverASTL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASTL [hg38]
dbVarASTL
ClinVarASTL
MonarchASTL
1000_GenomesASTL 
Exome Variant ServerASTL
GNOMAD BrowserENSG00000188886
Varsome BrowserASTL
Genomic Variants (DGV)ASTL [DGVbeta]
DECIPHERASTL [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DASTL
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608860   
Orphanet
DisGeNETASTL
MedgenASTL
Genetic Testing Registry ASTL
NextProtQ6HA08 [Medical]
GENETestsASTL
Target ValidationASTL
Huge Navigator ASTL [HugePedia]
ClinGenASTL
Clinical trials, drugs, therapy
MyCancerGenomeASTL
Protein Interactions : CTD
Pharm GKB GenePA134922299
PharosQ6HA08
Clinical trialASTL
Miscellaneous
canSAR (ICR)ASTL (select the gene name)
HarmonizomeASTL
DataMed IndexASTL
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXASTL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 25 19:11:53 CET 2021

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