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    Astl astacin like metalloendopeptidase [ Mus musculus (house mouse) ]

    Gene ID: 215095, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Astlprovided by MGI
    Official Full Name
    astacin like metalloendopeptidaseprovided by MGI
    Primary source
    MGI:MGI:3046414
    See related
    Ensembl:ENSMUSG00000050468 AllianceGenome:MGI:3046414
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sas1b; 7420700F21
    Summary
    Enables aspartic-type peptidase activity and glutamic-type peptidase activity. Involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Located in cortical granule and plasma membrane. Is expressed in early conceptus and oocyte. Orthologous to human ASTL (astacin like metalloendopeptidase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward ovary adult (RPKM 7.3) See more
    Orthologs
    human all
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    Genomic context

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    See Astl in Genome Data Viewer
    Location:
    2 F1; 2 61.93 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (127180559..127199575)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (127338639..127357655)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 46762 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127154244-127154469 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127160153-127160262 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127160377-127160560 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127160818-127161005 Neighboring gene STARR-positive B cell enhancer ABC_E1255 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127163035-127163218 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127163294-127163403 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:127163407-127163608 Neighboring gene STARR-positive B cell enhancer ABC_E8793 Neighboring gene dual specificity phosphatase 2 Neighboring gene STARR-seq mESC enhancer starr_05625 Neighboring gene adrenergic receptor, alpha 2b Neighboring gene predicted gene, 39923 Neighboring gene STARR-seq mESC enhancer starr_05626

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Intracellular activation of ovastacin mediates pre-fertilization hardening of the zona pellucida. Körschgen H, et al. Mol Hum Reprod, 2017 Sep 1. PMID 28911209, Free PMC Article
    2. Viable offspring after imaging of Ca2+ oscillations and visualization of the cortical reaction in mouse eggs. Satouh Y, et al. Biol Reprod, 2017 Mar 1. PMID 28339615
    3. A Unique Egg Cortical Granule Localization Motif Is Required for Ovastacin Sequestration to Prevent Premature ZP2 Cleavage and Ensure Female Fertility in Mice. Xiong B, et al. PLoS Genet, 2017 Jan. PMID 28114310, Free PMC Article
    4. Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects. Zeng Y, et al. Hum Mol Genet, 2023 Jul 4. PMID 37133443
    5. The E-modulus of the oocyte is a non-destructive measure of zona pellucida hardening. Schmitz C, et al. Reproduction, 2021 Sep 8. PMID 34320465, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
      Title: Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
    2. Intracellular activation of Astl mediates pre-fertilization hardening of the zona pellucida.
      Title: Intracellular activation of ovastacin mediates pre-fertilization hardening of the zona pellucida.
    3. Seven amino acid motif near Astl N-terminus is necessary and sufficient for cortical granule localization.
      Title: A Unique Egg Cortical Granule Localization Motif Is Required for Ovastacin Sequestration to Prevent Premature ZP2 Cleavage and Ensure Female Fertility in Mice.
    4. ASTL is dynamically expressed in the embryonic epithelium and in embryonic stem cells, suggesting an important function for the control of epithelial cell behavior during early development.
      Title: Astacin-like metallo-endopeptidase is dynamically expressed in embryonic stem cells and embryonic epithelium during morphogenesis.
    5. Ovastacin is a pioneer component of mouse cortical granules and plays a definitive role in the postfertilization block to sperm binding that ensures monospermic fertilization and successful development
      Title: Ovastacin, a cortical granule protease, cleaves ZP2 in the zona pellucida to prevent polyspermy.
    6. Data show that SAS1B/SAS1R (Sperm Acrosomal SLLP1 Binding/Sperm Acrosomal SLLP1 receptor) bound to sperm acrosomal protein SlLP1 with high affinity.
      Title: Oocyte specific oolemmal SAS1B involved in sperm binding through intra-acrosomal SLLP1 during fertilization.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC76457

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aspartic-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutamic-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of binding of sperm to zona pellucida IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in prevention of polyspermy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cortical granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    astacin-like metalloendopeptidase
    Names
    astacin-like metalloendopeptidase (M12 family)
    oocyte astacin
    ovastacin
    sperm acrosomal SLLP1
    sperm acrosomal SLLP1-binding protein
    NP_001277932.1
    NP_766127.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001291003.1 → NP_001277932.1  astacin-like metalloendopeptidase isoform a precursor

      See identical proteins and their annotated locations for NP_001277932.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      BC064729, DV649054, DV662582
      Consensus CDS
      CCDS71138.1
      UniProtKB/Swiss-Prot
      A2AHU0, A2AHU1, G7Z016, G7Z017, G7Z018, G7Z019, Q6HA09, Q8BMA1
      Related
      ENSMUSP00000087102.4, ENSMUST00000089673.10
      Conserved Domains (2) summary
      pfam01400
      Location:92 → 282
      Astacin; Astacin (Peptidase family M12A)
      cl00064
      Location:100 → 281
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    2. NM_172539.3 → NP_766127.1  astacin-like metalloendopeptidase isoform b

      See identical proteins and their annotated locations for NP_766127.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK033037, AL845368, DV662582
      Consensus CDS
      CCDS16700.1
      UniProtKB/Swiss-Prot
      Q6HA09
      Related
      ENSMUSP00000054456.3, ENSMUST00000059839.9
      Conserved Domains (2) summary
      pfam01400
      Location:71 → 261
      Astacin; Astacin (Peptidase family M12A)
      cl00064
      Location:79 → 260
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      127180559..127199575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6HA09.3 GenPept UniProtKB/Swiss-Prot:Q6HA09

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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