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    ASTL astacin like metalloendopeptidase [ Homo sapiens (human) ]

    Gene ID: 431705, updated on 3-Apr-2024

    Summary

    Official Symbol
    ASTLprovided by HGNC
    Official Full Name
    astacin like metalloendopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:31704
    See related
    Ensembl:ENSG00000188886 MIM:608860; AllianceGenome:HGNC:31704
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAS1B; OOMD11; OZEMA11
    Summary
    Predicted to enable aspartic-type peptidase activity; glutamic-type peptidase activity; and metalloendopeptidase activity. Predicted to be involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Predicted to be located in cortical granule and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bone marrow (RPKM 1.1), skin (RPKM 0.2) and 10 other tissues See more
    Orthologs
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    Genomic context

    See ASTL in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96122818..96138564, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96629422..96645168, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96788557..96804241, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96725007-96725917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96757989-96758504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96774519-96775506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11751 Neighboring gene adrenoceptor alpha 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96798301-96798801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96800355-96800854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96810561-96811062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96813301-96814190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96818462-96819055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16200 Neighboring gene Sharpr-MPRA regulatory region 4518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96824357-96824894 Neighboring gene dual specificity phosphatase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16206 Neighboring gene StAR related lipid transfer domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96874259-96874849 Neighboring gene STARD7 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129843

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartic-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables glutamic-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of binding of sperm to zona pellucida ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in prevention of polyspermy ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cortical granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    astacin-like metalloendopeptidase
    Names
    ZP2-proteinase
    astacin-like metallo-endopeptidase (M12 family)
    astacin-like metalloendopeptidase (M12 family)
    oocyte astacin
    ovastacin
    sperm acrosomal SLLP1 binding
    NP_001002036.3
    XP_011509507.1
    XP_011509509.1
    XP_011509510.1
    XP_054198100.1
    XP_054198101.1
    XP_054198102.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001002036.4NP_001002036.3  astacin-like metalloendopeptidase precursor

      See identical proteins and their annotated locations for NP_001002036.3

      Status: VALIDATED

      Source sequence(s)
      AC012307
      Consensus CDS
      CCDS33249.1
      UniProtKB/Swiss-Prot
      Q3KNT0, Q6HA08
      UniProtKB/TrEMBL
      Q3B826
      Related
      ENSP00000343674.2, ENST00000342380.3
      Conserved Domains (2) summary
      pfam01400
      Location:92283
      Astacin; Astacin (Peptidase family M12A)
      cl00064
      Location:100281
      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_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96122818..96138564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511208.3XP_011509510.1  astacin-like metalloendopeptidase isoform X3

      Conserved Domains (2) summary
      smart00235
      Location:96239
      ZnMc; Zinc-dependent metalloprotease
      cl00064
      Location:105245
      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. XM_011511207.3XP_011509509.1  astacin-like metalloendopeptidase isoform X2

      UniProtKB/TrEMBL
      Q3B826
      Conserved Domains (2) summary
      pfam01400
      Location:97270
      Astacin; Astacin (Peptidase family M12A)
      cl00064
      Location:105268
      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 ...
    3. XM_011511205.3XP_011509507.1  astacin-like metalloendopeptidase isoform X1

      UniProtKB/TrEMBL
      Q3B826
      Conserved Domains (2) summary
      pfam01400
      Location:97288
      Astacin; Astacin (Peptidase family M12A)
      cl00064
      Location:105286
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96629422..96645168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342127.1XP_054198102.1  astacin-like metalloendopeptidase isoform X3

    2. XM_054342126.1XP_054198101.1  astacin-like metalloendopeptidase isoform X2

    3. XM_054342125.1XP_054198100.1  astacin-like metalloendopeptidase isoform X1