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Aliases for ASTL Gene

Aliases for ASTL Gene

  • Astacin Like Metalloendopeptidase 2 3 5
  • Astacin-Like Metallo-Endopeptidase (M12 Family) 2 3
  • Sperm Acrosomal SLLP1 Binding 2 3
  • Oocyte Astacin 3 4
  • Ovastacin 3 4
  • Astacin-Like Metalloendopeptidase (M12 Family) 3
  • Astacin-Like Metalloendopeptidase 3
  • EC 3.4.-.- 4
  • SAS1B 3

External Ids for ASTL Gene

Previous GeneCards Identifiers for ASTL Gene

  • GC00U914494
  • GC02M096211
  • GC02U900795
  • GC02M096153
  • GC02M096789
  • GC02M090750

Summaries for ASTL Gene

GeneCards Summary for ASTL Gene

ASTL (Astacin Like Metalloendopeptidase) is a Protein Coding gene. Diseases associated with ASTL include Ovary Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is MEP1B.

UniProtKB/Swiss-Prot for ASTL Gene

  • Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity).

Additional gene information for ASTL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASTL Gene

Genomics for ASTL Gene

GeneHancer (GH) Regulatory Elements for ASTL Gene

Promoters and enhancers for ASTL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I096138 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.8 +4.5 4488 1.3 CTCF RB1 BACH1 PAX8 EBF1 CHD7 BMI1 RAD21 POLR2A ARID2 ASTL GPAT2 ADRA2B
GH02I096141 Enhancer 0.5 ENCODE 550.8 +1.7 1710 0.1 POLR2A SMAD5 BACH1 ZKSCAN1 ASTL ADRA2B
GH02I096263 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 -122.8 -122783 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 CIAO1 TMEM127 SNRNP200 KANSL3 ENSG00000230747 ITPRIPL1 CNNM3 ANKRD36 NCAPH ASTL
GH02I096255 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.5 -116.2 -116196 7.2 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ZNF766 DUSP2 CIAO1 STARD7 STARD7-AS1 ASTL ITPRIPL1 ENSG00000230747 SNRNP200 TMEM127 ARID5A
GH02I096304 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.3 -162.6 -162562 2.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SNRNP200 CIAO1 KANSL3 NCAPH STARD7-AS1 ASTL DUSP2 ENSG00000230747
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASTL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASTL gene promoter:

Genomic Locations for ASTL Gene

Genomic Locations for ASTL Gene
chr2:96,122,817-96,143,077
(GRCh38/hg38)
Size:
20,261 bases
Orientation:
Minus strand
chr2:96,789,589-96,804,175
(GRCh37/hg19)

Genomic View for ASTL Gene

Genes around ASTL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASTL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASTL Gene

Proteins for ASTL Gene

  • Protein details for ASTL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6HA08-ASTL_HUMAN
    Recommended name:
    Astacin-like metalloendopeptidase
    Protein Accession:
    Q6HA08
    Secondary Accessions:
    • Q3KNT0

    Protein attributes for ASTL Gene

    Size:
    431 amino acids
    Molecular mass:
    45936 Da
    Quaternary structure:
    • Interacts (via N-terminal domain) with SPACA3; the interaction occurs during fertilization.

neXtProt entry for ASTL Gene

Post-translational modifications for ASTL Gene

No Post-translational modifications

Other Protein References for ASTL Gene

No data available for DME Specific Peptides for ASTL Gene

Domains & Families for ASTL Gene

Gene Families for ASTL Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for ASTL Gene

Suggested Antigen Peptide Sequences for ASTL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6HA08

UniProtKB/Swiss-Prot:

ASTL_HUMAN :
  • Belongs to the peptidase M12A family.
Family:
  • Belongs to the peptidase M12A family.
genes like me logo Genes that share domains with ASTL: view

Function for ASTL Gene

Molecular function for ASTL Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Enzymatic activity was assayed using synthetic quenched fluorescent substrates QF-24, QF-35 and QF-41. Astacin displayed the highest Kcat/KM value against QF-35. {ECO:0000269 PubMed:15087446}; pH dependence: Optimum pH is 7.5. {ECO:0000269 PubMed:15087446};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by wide spectrum metalloproteinase inhibitor batimastat (BB-94). Also inhibited by EDTA.
UniProtKB/Swiss-Prot Function:
Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity).

Enzyme Numbers (IUBMB) for ASTL Gene

Gene Ontology (GO) - Molecular Function for ASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 15087446
GO:0008233 peptidase activity IDA 15087446
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ASTL: view
genes like me logo Genes that share phenotypes with ASTL: view

Animal Models for ASTL Gene

MGI Knock Outs for ASTL:

Animal Model Products

miRNA for ASTL Gene

miRTarBase miRNAs that target ASTL

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASTL Gene

Localization for ASTL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASTL Gene

Cytoplasm. Cell membrane. Cytoplasmic granule. Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules. Localizes to the peripheral cortical granules of ovulated eggs. Probably exocytosed from cortical granules during post-fertilization. Detected throughout the ooplasm of germinal vesicle stage oocytes in early bilaminar secondary follicles shortly after birth. Detected in the microvillar domain of the oolemma in arrested ovulated secondary oocytes and in the first polar body prior to fertilization. Upon fertilization, detected in the perivitelline space (PVS). Colocalizes with SPACA3 at the microvillar domain of the oolemma and in the perivitelline space (PVS) (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASTL gene
Compartment Confidence
plasma membrane 5
extracellular 2
lysosome 1

Gene Ontology (GO) - Cellular Components for ASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 22206759
GO:0005886 plasma membrane ISS 22206759
GO:0016020 membrane IEA --
GO:0030133 transport vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ASTL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASTL Gene

Pathways & Interactions for ASTL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 15087446
GO:0007155 cell adhesion ISS,IEA 22206759
GO:0007338 single fertilization IEA --
GO:0009566 fertilization IEA,ISS 22206759
GO:0010954 positive regulation of protein processing ISS,IEA 22472438
genes like me logo Genes that share ontologies with ASTL: view

No data available for Pathways by source and SIGNOR curated interactions for ASTL Gene

Drugs & Compounds for ASTL Gene

No Compound Related Data Available

Transcripts for ASTL Gene

mRNA/cDNA for ASTL Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASTL Gene

Astacin-like metallo-endopeptidase (M12 family):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASTL Gene

No ASD Table

Relevant External Links for ASTL Gene

GeneLoc Exon Structure for
ASTL
ECgene alternative splicing isoforms for
ASTL

Expression for ASTL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASTL Gene

mRNA differential expression in normal tissues according to GTEx for ASTL Gene

This gene is overexpressed in Whole Blood (x7.0) and Bladder (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of ASTL Gene:

ASTL

SOURCE GeneReport for Unigene cluster for ASTL Gene:

Hs.447993

mRNA Expression by UniProt/SwissProt for ASTL Gene:

Q6HA08-ASTL_HUMAN
Tissue specificity: Expressed in promyelocytic leukemia HL-60 cells, Burkitts lymphoma Raji cells, and also in some ovarian carcinomas. Not detected in normal tissues.
genes like me logo Genes that share expression patterns with ASTL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASTL Gene

Orthologs for ASTL Gene

This gene was present in the common ancestor of animals.

Orthologs for ASTL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASTL 33 34
  • 98.07 (n)
cow
(Bos Taurus)
Mammalia ASTL 33 34
  • 80.41 (n)
dog
(Canis familiaris)
Mammalia ASTL 33
  • 79.87 (n)
rat
(Rattus norvegicus)
Mammalia Astl 33
  • 76.41 (n)
mouse
(Mus musculus)
Mammalia Astl 33 16 34
  • 75.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASTL 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASTL 34
  • 27 (a)
OneToMany
-- 34
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ASTL 34
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii he1a 34
  • 41 (a)
OneToMany
he1b 34
  • 40 (a)
OneToMany
c6ast3 34
  • 37 (a)
OneToMany
ASTL (10 of 10) 34
  • 36 (a)
OneToMany
ASTL (7 of 10) 34
  • 35 (a)
OneToMany
c6ast4 34
  • 35 (a)
OneToMany
he2 34
  • 35 (a)
OneToMany
c6ast1 34
  • 33 (a)
OneToMany
npsn 34
  • 31 (a)
OneToMany
ASTL (8 of 10) 34
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006144 33
  • 51.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5715 33 34
  • 49.59 (n)
CG6696 34
  • 29 (a)
OneToMany
CG10280 34
  • 28 (a)
OneToMany
CG6763 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nas-1 34
  • 30 (a)
OneToMany
nas-6 34
  • 27 (a)
OneToMany
nas-3 34
  • 25 (a)
OneToMany
nas-4 34
  • 25 (a)
OneToMany
Y19D10A.6 34
  • 25 (a)
OneToMany
nas-2 34
  • 24 (a)
OneToMany
nas-7 34
  • 24 (a)
OneToMany
nas-12 34
  • 23 (a)
OneToMany
nas-13 34
  • 23 (a)
OneToMany
nas-5 34
  • 23 (a)
OneToMany
nas-14 34
  • 21 (a)
OneToMany
nas-8 34
  • 21 (a)
OneToMany
nas-15 34
  • 18 (a)
OneToMany
nas-21 34
  • 17 (a)
OneToMany
nas-27 34
  • 17 (a)
OneToMany
nas-28 34
  • 17 (a)
OneToMany
nas-19 34
  • 16 (a)
OneToMany
nas-22 34
  • 16 (a)
OneToMany
toh-1 34
  • 16 (a)
OneToMany
dpy-31 34
  • 15 (a)
OneToMany
nas-20 34
  • 15 (a)
OneToMany
nas-24 34
  • 15 (a)
OneToMany
nas-25 34
  • 15 (a)
OneToMany
hch-1 34
  • 14 (a)
OneToMany
nas-17 34
  • 14 (a)
OneToMany
nas-29 34
  • 14 (a)
OneToMany
nas-16 34
  • 13 (a)
OneToMany
nas-23 34
  • 13 (a)
OneToMany
nas-30 34
  • 13 (a)
OneToMany
nas-33 34
  • 13 (a)
OneToMany
nas-36 34
  • 13 (a)
OneToMany
nas-9 34
  • 13 (a)
OneToMany
nas-10 34
  • 12 (a)
OneToMany
nas-18 34
  • 12 (a)
OneToMany
nas-37 34
  • 12 (a)
OneToMany
nas-11 34
  • 11 (a)
OneToMany
nas-31 34
  • 11 (a)
OneToMany
nas-32 34
  • 11 (a)
OneToMany
nas-38 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToOne
Species where no ortholog for ASTL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ASTL Gene

ENSEMBL:
Gene Tree for ASTL (if available)
TreeFam:
Gene Tree for ASTL (if available)

Paralogs for ASTL Gene

Paralogs for ASTL Gene

genes like me logo Genes that share paralogs with ASTL: view

Variants for ASTL Gene

Sequence variations from dbSNP and Humsavar for ASTL Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000100076 -- 96,135,918(-) G/A intron_variant
rs1000259851 -- 96,141,137(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000321758 -- 96,125,108(-) C/A intron_variant
rs1000409204 -- 96,131,560(-) CCCCCC/CCCCCCC intron_variant
rs1000533572 -- 96,136,857(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASTL Gene

Variant ID Type Subtype PubMed ID
dgv4009n100 CNV gain 25217958
dgv607e201 CNV deletion 23290073
esv2720410 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591652 OTHER inversion 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259

Variation tolerance for ASTL Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.11; 87.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASTL Gene

Human Gene Mutation Database (HGMD)
ASTL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASTL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASTL Gene

Disorders for ASTL Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASTL Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
ovary adenocarcinoma
  • adenocarcinoma of the ovary
- elite association - COSMIC cancer census association via MalaCards
Search ASTL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASTL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASTL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASTL Gene

Publications for ASTL Gene

  1. Identification and characterization of human and mouse ovastacin: a novel metalloproteinase similar to hatching enzymes from arthropods, birds, amphibians, and fish. (PMID: 15087446) Quesada V … López-Otín C (The Journal of biological chemistry 2004) 2 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Membrane associated cancer-oocyte neoantigen SAS1B/ovastacin is a candidate immunotherapeutic target for uterine tumors. (PMID: 26327203) Pires ES … Herr JC (Oncotarget 2015) 3 58

Products for ASTL Gene

Sources for ASTL Gene

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