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Aliases for ASTL Gene

Aliases for ASTL Gene

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

External Ids for ASTL Gene

Summaries for ASTL Gene

GeneCards Summary for ASTL Gene

ASTL (Astacin-Like Metallo-Endopeptidase (M12 Family)) is a Protein Coding gene. GO annotations related to this gene include metalloendopeptidase activity and aspartic-type peptidase activity. An important paralog of this gene is MEP1A.

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASTL Gene

Genomics for ASTL Gene

Genomic Location for ASTL Gene

Start:
96,123,850 bp from pter
End:
96,138,436 bp from pter
Size:
14,587 bases
Orientation:
Minus strand

Genomic View for ASTL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASTL Gene

Regulatory Elements 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

Proteomics data for ASTL Gene at MOPED

Post-translational modifications for ASTL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASTL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASTL Gene

Domains for ASTL Gene

Protein Domains for ASTL Gene

UniProtKB/Swiss-Prot:

ASTL_HUMAN
Family:
  • Belongs to the peptidase M12A family.:
    • Q6HA08
genes like me logo Genes that share domains with ASTL: view

No data available for Gene Families for ASTL Gene

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:0005515 protein binding --
GO:0008233 peptidase activity IDA 15087446
GO:0008237 metallopeptidase activity --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ASTL: view

Phenotypes for ASTL Gene

MGI mutant phenotypes for ASTL:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with ASTL: view

Animal Models for ASTL Gene

MGI Knock Outs for ASTL:

miRNA for ASTL Gene

miRTarBase miRNAs that target ASTL

No data available for Transcription Factor Targeting 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
Jensen Localization Image for ASTL Gene COMPARTMENTS Subcellular localization image for ASTL gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytosol 1
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:0030133 transport vesicle IEA --
GO:0060473 cortical granule ISS 22472438
genes like me logo Genes that share ontologies with ASTL: view

Pathways for ASTL Gene

SuperPathways for ASTL Gene

No Data Available

Interacting Proteins for ASTL Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000343674%0d%0a9606.ENSP00000362649%0d%0a9606.ENSP00000204604%0d%0a9606.ENSP00000296875%0d%0a9606.ENSP00000252677%0d%0a
Selected Interacting proteins: ENSP00000343674 for ASTL Gene via STRING

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:0009566 fertilization ISS 22206759
GO:0010954 positive regulation of protein processing ISS 22472438
GO:0060468 prevention of polyspermy ISS 22472438
genes like me logo Genes that share ontologies with ASTL: view

No data available for Pathways by source for ASTL Gene

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:

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 for ASTL Gene

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

This gene is overexpressed in Whole Blood (7.0) and Bladder (5.0).

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 expressions with ASTL: view

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 36
  • 98.07 (n)
  • 96.29 (a)
ASTL 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASTL 36
  • 80.41 (n)
  • 74.01 (a)
ASTL 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASTL 36
  • 79.87 (n)
  • 72.64 (a)
mouse
(Mus musculus)
Mammalia Astl 36
  • 75.22 (n)
  • 68.7 (a)
Astl 16
Astl 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASTL 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Astl 36
  • 76.41 (n)
  • 71.46 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 25 (a)
OneToMany
ASTL 37
  • 27 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ASTL 37
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ASTL (10 of 10) 37
  • 36 (a)
OneToMany
ASTL (7 of 10) 37
  • 35 (a)
OneToMany
ASTL (8 of 10) 37
  • 28 (a)
OneToMany
c6ast1 37
  • 33 (a)
OneToMany
c6ast3 37
  • 37 (a)
OneToMany
c6ast4 37
  • 35 (a)
OneToMany
he1a 37
  • 41 (a)
OneToMany
he1b 37
  • 40 (a)
OneToMany
he2 37
  • 35 (a)
OneToMany
npsn 37
  • 31 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006144 36
  • 51.26 (n)
  • 45.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10280 37
  • 28 (a)
OneToMany
CG5715 36
  • 49.59 (n)
  • 42.79 (a)
CG5715 37
  • 33 (a)
OneToMany
CG6696 37
  • 29 (a)
OneToMany
CG6763 37
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-31 37
  • 15 (a)
OneToMany
hch-1 37
  • 14 (a)
OneToMany
nas-1 37
  • 30 (a)
OneToMany
nas-10 37
  • 12 (a)
OneToMany
nas-11 37
  • 11 (a)
OneToMany
nas-12 37
  • 23 (a)
OneToMany
nas-13 37
  • 23 (a)
OneToMany
nas-14 37
  • 21 (a)
OneToMany
nas-15 37
  • 18 (a)
OneToMany
nas-16 37
  • 13 (a)
OneToMany
nas-17 37
  • 14 (a)
OneToMany
nas-18 37
  • 12 (a)
OneToMany
nas-19 37
  • 16 (a)
OneToMany
nas-2 37
  • 24 (a)
OneToMany
nas-20 37
  • 15 (a)
OneToMany
nas-21 37
  • 17 (a)
OneToMany
nas-22 37
  • 16 (a)
OneToMany
nas-23 37
  • 13 (a)
OneToMany
nas-24 37
  • 15 (a)
OneToMany
nas-25 37
  • 15 (a)
OneToMany
nas-27 37
  • 17 (a)
OneToMany
nas-28 37
  • 17 (a)
OneToMany
nas-29 37
  • 14 (a)
OneToMany
nas-3 37
  • 25 (a)
OneToMany
nas-30 37
  • 13 (a)
OneToMany
nas-31 37
  • 11 (a)
OneToMany
nas-32 37
  • 11 (a)
OneToMany
nas-33 37
  • 13 (a)
OneToMany
nas-36 37
  • 13 (a)
OneToMany
nas-37 37
  • 12 (a)
OneToMany
nas-38 37
  • 11 (a)
OneToMany
nas-4 37
  • 25 (a)
OneToMany
nas-5 37
  • 23 (a)
OneToMany
nas-6 37
  • 27 (a)
OneToMany
nas-7 37
  • 24 (a)
OneToMany
nas-8 37
  • 21 (a)
OneToMany
nas-9 37
  • 13 (a)
OneToMany
toh-1 37
  • 16 (a)
OneToMany
Y19D10A.6 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 24 (a)
OneToOne
Species with no ortholog for ASTL:
  • 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 MAF
rs749457 -- 96,130,205(-) TTGCC(C/T)GCCCT intron-variant
rs749458 - 96,130,118(-) GTCTC(A/G)GAGCA reference, missense
rs749459 -- 96,129,975(-) AGGCT(C/T)GCCTT reference, synonymous-codon
rs893173 -- 96,124,048(+) GAAGC(C/T)AGGGT reference, synonymous-codon
rs1168966 -- 96,132,771(-) ATGTC(C/T)GGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv650e201 CNV Deletion 23290073
esv5003 CNV Complex 18987735
dgv4247n71 CNV Loss 21882294
dgv4248n71 CNV Loss 21882294
nsv874677 CNV Loss 21882294
esv2720410 CNV Deletion 23290073

Relevant External Links for ASTL Gene

HapMap Linkage Disequilibrium report
ASTL
Human Gene Mutation Database (HGMD)
ASTL

Disorders for ASTL Gene

Relevant External Links for ASTL

Genetic Association Database (GAD)
ASTL
Human Genome Epidemiology (HuGE) Navigator
ASTL
genes like me logo Genes that share disorders with ASTL: view

No data available for UniProtKB/Swiss-Prot 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 23
  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 49
  3. Oocyte specific oolemmal SAS1B involved in sperm binding through intra-acrosomal SLLP1 during fertilization. (PMID: 22206759) Sachdev M. … Herr J.C. (Dev. Biol. 2012) 3
  4. Ovastacin, a cortical granule protease, cleaves ZP2 in the zona pellucida to prevent polyspermy. (PMID: 22472438) Burkart A.D. … Dean J. (J. Cell Biol. 2012) 3
  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

Products for ASTL Gene

Sources for ASTL Gene

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