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

Gene ID: 240832, updated on 11-Apr-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 ATPase 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, Apr 2022]
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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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
  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. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Goodchild RE, et al. Neuron, 2005 Dec 22. PMID 16364897

See all (32) 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
  
located_in nucleus IEA
Inferred from Electronic Annotation
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

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