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    Aste1 asteroid homolog 1 [ Mus musculus (house mouse) ]

    Gene ID: 66595, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Aste1provided by MGI
    Official Full Name
    asteroid homolog 1provided by MGI
    Primary source
    MGI:MGI:1913845
    See related
    Ensembl:ENSMUSG00000032567 AllianceGenome:MGI:1913845
    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
    1100001A21Rik
    Summary
    Predicted to enable 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in double-strand break repair via homologous recombination and double-strand break repair via nonhomologous end joining. Is expressed in brain. Human ortholog(s) of this gene implicated in Lynch syndrome and mismatch repair cancer syndrome. Orthologous to human ASTE1 (asteroid homolog 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 4.8), limb E14.5 (RPKM 0.7) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aste1 in Genome Data Viewer
    Location:
    9 F1; 9 56.61 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (105272533..105285497)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (105395294..105408299)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5099 Neighboring gene nudix hydrolase 16 Neighboring gene nudix hydrolase 16 like 2 Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 11 Neighboring gene STARR-positive B cell enhancer ABC_E895 Neighboring gene STARR-positive B cell enhancer ABC_E3856 Neighboring gene STARR-positive B cell enhancer ABC_E5100 Neighboring gene ATPase, Ca++-sequestering Neighboring gene STARR-positive B cell enhancer mm9_chr9:105398187-105398487 Neighboring gene predicted gene, 40564 Neighboring gene STARR-seq mESC enhancer starr_25124 Neighboring gene STARR-seq mESC enhancer starr_25126 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection. Zhao F, et al. Nat Cell Biol, 2021 Aug. PMID 34354233
    2. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. van der Zwaag B, et al. Genomics, 2005 Jul. PMID 15953540
    3. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    4. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107393

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3' overhang single-stranded DNA endodeoxyribonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables single-stranded DNA endodeoxyribonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    single-strand DNA endonuclease ASTE1; protein asteroid homolog 1

    NCBI Reference Sequences (RefSeq)

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    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_001164828.1 → NP_001158300.1  single-strand DNA endonuclease ASTE1 isoform 2

      See identical proteins and their annotated locations for NP_001158300.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC113016, AK006153
      Consensus CDS
      CCDS52905.1
      UniProtKB/TrEMBL
      E9Q1A4
      Related
      ENSMUSP00000131164.2, ENSMUST00000167674.2

    2. NM_001357902.1 → NP_001344831.1  single-strand DNA endonuclease ASTE1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate segment compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC113016, BC098471, CJ226565
      Consensus CDS
      CCDS90653.1
      Related
      ENSMUSP00000149596.2, ENSMUST00000123807.8

    3. NM_025651.5 → NP_079927.2  single-strand DNA endonuclease ASTE1 isoform 1

      See identical proteins and their annotated locations for NP_079927.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC113016, AK030661
      Consensus CDS
      CCDS23465.1
      UniProtKB/Swiss-Prot
      Q4KMN1, Q80VC2, Q8BIR2
      Related
      ENSMUSP00000035181.4, ENSMUST00000035181.10
      Conserved Domains (1) summary
      cl28905
      Location:28 → 181
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    RNA

    1. NR_152139.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC113016

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      105272533..105285497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511784.5 → XP_006511847.1  protein asteroid homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006511847.1

      UniProtKB/Swiss-Prot
      Q4KMN1, Q80VC2, Q8BIR2
      Conserved Domains (1) summary
      cl28905
      Location:28 → 181
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    2. XM_030244494.1 → XP_030100354.1  protein asteroid homolog 1 isoform X4

      UniProtKB/TrEMBL
      Q9D1S8

    3. XM_030244493.2 → XP_030100353.1  protein asteroid homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q9D1S8

    4. XM_006511787.4 → XP_006511850.1  protein asteroid homolog 1 isoform X3

      UniProtKB/TrEMBL
      Q9D1S8

    5. XM_006511789.5 → XP_006511852.1  protein asteroid homolog 1 isoform X4

      See identical proteins and their annotated locations for XP_006511852.1

      UniProtKB/TrEMBL
      Q9D1S8

    RNA

    1. XR_871094.4 RNA Sequence

    2. XR_004935513.1 RNA Sequence

    3. XR_004935514.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BIR2.1 GenPept UniProtKB/Swiss-Prot:Q8BIR2

    Gene LinkOut

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

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