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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. 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).

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

Regulatory Elements for ASTL Gene

Enhancers for ASTL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G096255 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.5 -116.2 -116197 7.2 MLX DMAP1 YY1 ZNF143 SP3 NFYC PPARGC1A MEF2D SSRP1 RCOR2 DUSP2 CIAO1 STARD7 STARD7-AS1 ASTL ITPRIPL1 LOC105373495 SNRNP200 TMEM127 ARID5A
GH02G096161 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.1 -20.4 -20364 4.1 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 EGR1 ELK1 SCRT2 ZNF143 FOS ASTL ADRA2B ITPRIPL1 STARD7-AS1 STARD7 LOC105373495 KCNIP3 DUSP2 ARID5A KANSL3
GH02G096249 1.6 Ensembl ENCODE dbSUPER 10.8 -109.0 -108983 5.7 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A SLC30A9 ZNF766 FOS ITPRIPL1 STARD7-AS1 STARD7 ASTL DUSP2 LOC105373495 CIAO1 GPAT2P1 PIR47017 GC02M096251
GH02G096263 1.4 ENCODE dbSUPER 11.1 -122.8 -122784 3.8 HNRNPUL1 HDGF PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SNRNP200 CIAO1 LOC105373495 ITPRIPL1 NCAPH ASTL DUSP2 KCNIP3 TMEM127 GC02M096255
GH02G096167 1.1 ENCODE dbSUPER 13.1 -24.9 -24858 0.8 HDGF SIX4 PKNOX1 NFIB MAX SIN3A RBBP5 EBF1 ZIC2 RAD21 DUSP2 ASTL ADRA2B STARD7-AS1 STARD7 LOC344065 GC02P096183 ENSG00000228873
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASTL on UCSC Golden Path with GeneCards custom track

Promoters for ASTL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120234 -1923 1601 HDGF PKNOX1 SIN3A DMAP1 TCF12 GATA2 ELK1 ZNF143 ZNF207 TBX21

Genomic Location for ASTL Gene

Chromosome:
2
Start:
96,122,817 bp from pter
End:
96,143,077 bp from pter
Size:
20,261 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

  • Taconic Biosciences Mouse Models for ASTL

CRISPR Products

miRNA for ASTL Gene

miRTarBase miRNAs that target ASTL

Inhibitory RNA Products

No data available for 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

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 22206759
GO:0007338 single fertilization IEA --
GO:0009566 fertilization ISS 22206759
GO:0010954 positive regulation of protein processing ISS 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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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 34 35
  • 98.07 (n)
cow
(Bos Taurus)
Mammalia ASTL 34 35
  • 80.41 (n)
dog
(Canis familiaris)
Mammalia ASTL 34
  • 79.87 (n)
rat
(Rattus norvegicus)
Mammalia Astl 34
  • 76.41 (n)
mouse
(Mus musculus)
Mammalia Astl 34 16 35
  • 75.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASTL 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASTL 35
  • 27 (a)
OneToMany
-- 35
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ASTL 35
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii he1a 35
  • 41 (a)
OneToMany
he1b 35
  • 40 (a)
OneToMany
c6ast3 35
  • 37 (a)
OneToMany
ASTL (10 of 10) 35
  • 36 (a)
OneToMany
ASTL (7 of 10) 35
  • 35 (a)
OneToMany
c6ast4 35
  • 35 (a)
OneToMany
he2 35
  • 35 (a)
OneToMany
c6ast1 35
  • 33 (a)
OneToMany
npsn 35
  • 31 (a)
OneToMany
ASTL (8 of 10) 35
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006144 34
  • 51.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5715 34 35
  • 49.59 (n)
CG6696 35
  • 29 (a)
OneToMany
CG10280 35
  • 28 (a)
OneToMany
CG6763 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nas-1 35
  • 30 (a)
OneToMany
nas-6 35
  • 27 (a)
OneToMany
nas-4 35
  • 25 (a)
OneToMany
Y19D10A.6 35
  • 25 (a)
OneToMany
nas-3 35
  • 25 (a)
OneToMany
nas-7 35
  • 24 (a)
OneToMany
nas-2 35
  • 24 (a)
OneToMany
nas-5 35
  • 23 (a)
OneToMany
nas-13 35
  • 23 (a)
OneToMany
nas-12 35
  • 23 (a)
OneToMany
nas-8 35
  • 21 (a)
OneToMany
nas-14 35
  • 21 (a)
OneToMany
nas-15 35
  • 18 (a)
OneToMany
nas-28 35
  • 17 (a)
OneToMany
nas-27 35
  • 17 (a)
OneToMany
nas-21 35
  • 17 (a)
OneToMany
nas-22 35
  • 16 (a)
OneToMany
nas-19 35
  • 16 (a)
OneToMany
toh-1 35
  • 16 (a)
OneToMany
dpy-31 35
  • 15 (a)
OneToMany
nas-25 35
  • 15 (a)
OneToMany
nas-24 35
  • 15 (a)
OneToMany
nas-20 35
  • 15 (a)
OneToMany
hch-1 35
  • 14 (a)
OneToMany
nas-29 35
  • 14 (a)
OneToMany
nas-17 35
  • 14 (a)
OneToMany
nas-9 35
  • 13 (a)
OneToMany
nas-36 35
  • 13 (a)
OneToMany
nas-33 35
  • 13 (a)
OneToMany
nas-30 35
  • 13 (a)
OneToMany
nas-23 35
  • 13 (a)
OneToMany
nas-16 35
  • 13 (a)
OneToMany
nas-37 35
  • 12 (a)
OneToMany
nas-18 35
  • 12 (a)
OneToMany
nas-10 35
  • 12 (a)
OneToMany
nas-38 35
  • 11 (a)
OneToMany
nas-32 35
  • 11 (a)
OneToMany
nas-31 35
  • 11 (a)
OneToMany
nas-11 35
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000100076 -- 96,135,918(+) CCTCA(A/G)AACAG intron-variant
rs1000259851 -- 96,141,137(+) TCACC(C/T)TTCAT intron-variant
rs1000321758 -- 96,125,108(+) TCCTA(A/C)ACCAG intron-variant
rs1000409204 -- 96,131,559(+) TGTCA(-/C)CCCCC intron-variant
rs1000533572 -- 96,136,857(+) TTTGT(A/T)TTTTG 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)

Relevant External Links 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: DISEASES and GeneCards

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

Relevant External Links for ASTL

Genetic Association Database (GAD)
ASTL
Human Genome Epidemiology (HuGE) Navigator
ASTL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASTL
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. … Lopez-Otin C. (J. Biol. Chem. 2004) 2 3 4 22 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Membrane associated cancer-oocyte neoantigen SAS1B/ovastacin is a candidate immunotherapeutic target for uterine tumors. (PMID: 26327203) Pires E.S. … Herr J.C. (Oncotarget 2015) 3 64
  5. SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition. (PMID: 24038607) Pires E.S. … Herr J.C. (Dev. Dyn. 2013) 3 64

Products for ASTL Gene

Sources for ASTL Gene

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