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

Summary

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, Apr 2022]
Expression: Restricted expression toward ovary adult (RPKM 7.3) See more
Orthologs: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (7) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

C87576 (e-PCR)
- UniSTS:159021

L11330 (e-PCR)
- UniSTS:159023

Astl (e-PCR), detects polymorphism
- UniSTS:516076

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 peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

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

EC 3.4.24.21

NP_766127.1

EC 3.4.24.21

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)

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 ...
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 ...