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    Ankle1 ankyrin repeat and LEM domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 234396, updated on 27-Nov-2024

    Summary

    Official Symbol
    Ankle1provided by MGI
    Official Full Name
    ankyrin repeat and LEM domain containing 1provided by MGI
    Primary source
    MGI:MGI:1918775
    See related
    Ensembl:ENSMUSG00000046295 AllianceGenome:MGI:1918775
    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
    Lem3; Ankrd41; C430003I23; 8430438L13Rik
    Summary
    Predicted to enable DNA endonuclease activity. Involved in negative regulation of mitotic recombination; regulation of lymphoid progenitor cell differentiation; and regulation of myeloid progenitor cell differentiation. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleoplasm. Predicted to colocalize with nucleus. Orthologous to human ANKLE1 (ankyrin repeat and LEM domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in liver E14.5 (RPKM 28.4), liver E14 (RPKM 23.3) and 16 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Ankle1 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.43 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (71858630..71868475)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (71405986..71410728)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E881 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene STARR-positive B cell enhancer ABC_E1758 Neighboring gene STARR-positive B cell enhancer ABC_E9729 Neighboring gene predicted gene, 39193 Neighboring gene abhydrolase domain containing 8 Neighboring gene STARR-positive B cell enhancer ABC_E6651 Neighboring gene STARR-positive B cell enhancer ABC_E358 Neighboring gene mitochondrial ribosomal protein L34

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

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

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables endonuclease activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    NOT involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT involved_in erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mitotic recombination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein export from nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein export from nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in regulation of B cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of T cell differentiation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of alpha-beta T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lymphoid progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of myeloid progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat and LEM domain-containing protein 1
    Names
    LEM-domain containing 3
    LEM-domain containing protein 3
    ankyrin repeat domain 41
    ankyrin repeat domain-containing protein 41

    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_001310502.1NP_001297431.1  ankyrin repeat and LEM domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001297431.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK083552, BC094316, CJ046325, EU184014
      Consensus CDS
      CCDS80893.1
      UniProtKB/Swiss-Prot
      A8VU90
      Related
      ENSMUSP00000112797.2, ENSMUST00000120725.2
      Conserved Domains (6) summary
      cd10454
      Location:352464
      GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
      cd00204
      Location:26128
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:26106
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:76128
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:75106
      ANK; ANK repeat [structural motif]
      cl02649
      Location:265302
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
    2. NM_172756.3NP_766344.2  ankyrin repeat and LEM domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_766344.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK083552, BC094316, CJ046325, EU184014
      Consensus CDS
      CCDS52583.1
      UniProtKB/Swiss-Prot
      A6H5W1, A8VU90, G5E8T1, Q8C4V5, Q8K2N6
      Related
      ENSMUSP00000113162.2, ENSMUST00000119976.8
      Conserved Domains (6) summary
      cd10454
      Location:372484
      GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
      cd00204
      Location:26128
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:26106
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:76128
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:75106
      ANK; ANK repeat [structural motif]
      cl02649
      Location:285322
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      71858630..71868475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509661.5XP_006509724.1  ankyrin repeat and LEM domain-containing protein 1 isoform X1

      Conserved Domains (4) summary
      PTZ00322
      Location:60139
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      cd10454
      Location:351463
      GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
      sd00045
      Location:75106
      ANK; ANK repeat [structural motif]
      cl02649
      Location:264301
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
    2. XM_030243488.2XP_030099348.1  ankyrin repeat and LEM domain-containing protein 1 isoform X2

      Conserved Domains (2) summary
      cd10454
      Location:88200
      GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
      cl02649
      Location:138
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
    3. XM_036153950.1XP_036009843.1  ankyrin repeat and LEM domain-containing protein 1 isoform X2

      Conserved Domains (2) summary
      cd10454
      Location:88200
      GIY-YIG_COG3680_Meta; GIY-YIG domain of hypothetical proteins from Metazoa
      cl02649
      Location:138
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins