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    Tor1aip2 torsin A interacting protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 240832, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tor1aip2provided by MGI
    Official Full Name
    torsin A interacting protein 2provided by MGI
    Primary source
    MGI:MGI:3582695
    See related
    Ensembl:ENSMUSG00000050565 AllianceGenome:MGI:3582695
    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
    15kDa; Lull1; Ifrg15; A130072J07; 1110020D10Rik
    Summary
    Predicted to enable ATPase activator activity and ATPase binding activity. Predicted to be involved in several processes, including endoplasmic reticulum organization; positive regulation of ATP-dependent activity; and protein localization to nuclear envelope. Located in endoplasmic reticulum. Is expressed in several structures, including 1st branchial arch mandibular component mesenchyme; alimentary system; central nervous system; sensory organ; and skin. Orthologous to human TOR1AIP2 (torsin 1A interacting protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 24.5), large intestine adult (RPKM 11.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tor1aip2 in Genome Data Viewer
    Location:
    1 G3; 1 67.7 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (155911410..155944607)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (156035664..156068861)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53631 Neighboring gene torsin A interacting protein 1 Neighboring gene predicted gene, 51653 Neighboring gene STARR-seq mESC enhancer starr_02728 Neighboring gene family with sequence similarity 163, member A Neighboring gene STARR-seq mESC enhancer starr_02733 Neighboring gene predicted gene, 30472

    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
    • 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. The interferon α-responsive gene, Ifrg15, plays vital roles during mouse early embryonic development. Yang Y, et al. Cell Mol Life Sci, 2016 Aug. PMID 26911731, Free PMC Article
    2. Sequence analysis, expression patterns and transcriptional regulation of mouse Ifrg15 during preimplantation embryonic development. Wu FR, et al. Gene, 2012 Oct 10. PMID 22871540
    3. In situ expression of 15 kDa interferon alpha responsive gene in the developing tooth germ of the mouse lower first molar. Akhter M, et al. J Mol Histol, 2010 Oct. PMID 20623326
    4. Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum. Goodchild RE, et al. J Cell Sci, 2015 Aug 1. PMID 26092934, Free PMC Article
    5. Dynamic regulation of hepatic lipid metabolism by torsinA and its activators. Hernandez-Ono A, et al. JCI Insight, 2024 Feb 8. PMID 38194265, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Preimplantation embryo development was arrested at the 1-cell stage after knocking down Ifrg15 expression.
      Title: The interferon α-responsive gene, Ifrg15, plays vital roles during mouse early embryonic development.
    2. The data suggest that LULL1 oligomerizes to engage and transiently disassemble torsinA oligomers, and is thereby positioned to transduce cytoplasmic signals to the inner nuclear membrane through torsinA.
      Title: Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum.
    3. Ifrg15 transcription might be either potentially regulated or dependent on the post-transcriptional effects of IFN-alpha mediated by the three genes Oct4, c-Myc and Nanog indirectly
      Title: Sequence analysis, expression patterns and transcriptional regulation of mouse Ifrg15 during preimplantation embryonic development.
    4. These results suggest that Ifrg15 is closely related to odontogenesis, especially the differentiation of the ameloblasts and odontoblasts, and to the morphogenesis of the craniofacial organs.
      Title: In situ expression of 15 kDa interferon alpha responsive gene in the developing tooth germ of the mouse lower first molar.
    5. identifed a novel transmembrane protein, lumenal domain like LAP1 (LULL1), which appears to interact with torsinA; it resides in the main endoplasmic reticulum.
      Title: The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13142, MGC70203, MGC76434, MGC102429

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ATP-dependent activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    torsin-1A-interacting protein 2; interferon alpha responsive protein
    Names
    15 kDa interferon-responsive protein
    interferon alpha responsive gene, 15 kDa
    interferon alpha responsive protein (15 kDa)
    lumenal domain like LAP1

    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_001160180.1 → NP_001153652.1  interferon alpha responsive protein isoform a

      See identical proteins and their annotated locations for NP_001153652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 1 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).
      Source sequence(s)
      AK032697, AK150303, BY254976
      Consensus CDS
      CCDS15388.1
      UniProtKB/Swiss-Prot
      Q3U8P1, Q3UAA2, Q9D178, Q9ER81
      UniProtKB/TrEMBL
      Q8BK77
      Related
      ENSMUSP00000107383.3, ENSMUST00000111754.9

    2. NM_001160181.1 → NP_001153653.1  interferon alpha responsive protein isoform a

      See identical proteins and their annotated locations for NP_001153653.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 3 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).
      Source sequence(s)
      AK032697, AK150303, BY029314
      Consensus CDS
      CCDS15388.1
      UniProtKB/Swiss-Prot
      Q3U8P1, Q3UAA2, Q9D178, Q9ER81
      UniProtKB/TrEMBL
      Q8BK77
      Related
      ENSMUSP00000095133.3, ENSMUST00000097526.3

    3. NM_001160182.1 → NP_001153654.1  interferon alpha responsive protein isoform a

      See identical proteins and their annotated locations for NP_001153654.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 4 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).
      Source sequence(s)
      AA030492, AK032697, AK150303, BU614106
      Consensus CDS
      CCDS15388.1
      UniProtKB/Swiss-Prot
      Q3U8P1, Q3UAA2, Q9D178, Q9ER81
      UniProtKB/TrEMBL
      Q8BK77
      Related
      ENSMUSP00000135107.2, ENSMUST00000128941.8

    4. NM_001358626.1 → NP_001345555.1  torsin-1A-interacting protein 2 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC159964
      Consensus CDS
      CCDS15389.1
      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Related
      ENSMUSP00000050817.5, ENSMUST00000060404.5
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    5. NM_001358627.1 → NP_001345556.1  torsin-1A-interacting protein 2 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC159964
      Consensus CDS
      CCDS15389.1
      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    6. NM_022329.4 → NP_071724.1  interferon alpha responsive protein isoform a

      See identical proteins and their annotated locations for NP_071724.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 2 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).
      Source sequence(s)
      AK032697, AK150303, BY029314
      Consensus CDS
      CCDS15388.1
      UniProtKB/Swiss-Prot
      Q3U8P1, Q3UAA2, Q9D178, Q9ER81
      UniProtKB/TrEMBL
      Q8BK77
      Related
      ENSMUSP00000067353.9, ENSMUST00000065648.15

    7. NM_172843.4 → NP_766431.3  torsin-1A-interacting protein 2 isoform b

      See identical proteins and their annotated locations for NP_766431.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longer isoform b (torsin-1A-interacting protein 2), compared to isoform a. Variants 5, 6, and 7 encode the same isoform (b).
      Source sequence(s)
      AC159964, AK038024
      Consensus CDS
      CCDS15389.1
      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Related
      ENSMUSP00000107387.4, ENSMUST00000111757.10
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      155911410..155944607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529587.4 → XP_006529650.1  torsin-1A-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006529650.1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    2. XM_011248003.2 → XP_011246305.1  torsin-1A-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011246305.1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    3. XM_036164794.1 → XP_036020687.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    4. XM_006529589.4 → XP_006529652.1  torsin-1A-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006529652.1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    5. XM_036164790.1 → XP_036020683.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    6. XM_030254004.2 → XP_030109864.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    7. XM_036164791.1 → XP_036020684.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    8. XM_036164793.1 → XP_036020686.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    9. XM_017320551.3 → XP_017176040.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    10. XM_036164792.1 → XP_036020685.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6NY10, Q8BJP0, Q8BYU6
      Conserved Domains (1) summary
      pfam05609
      Location:28 → 492
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BYU6.1 GenPept UniProtKB/Swiss-Prot:Q8BYU6
    Q9ER81.1 GenPept UniProtKB/Swiss-Prot:Q9ER81

    Gene LinkOut

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

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