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

Gene ID: 215095, updated on 2-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 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

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