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    TOR1AIP2 torsin A interacting protein 2 [ Homo sapiens ]

    Gene ID: 163590, updated on 11-May-2012
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    Summary

    Official Symbol
    TOR1AIP2provided by HGNC
    Official Full Name
    torsin A interacting protein 2provided by HGNC
    Primary source
    HGNC:24055
    See related
    Ensembl:ENSG00000169905; HPRD:10048; MIM:614513; Vega:OTTHUMG00000035265
    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
    NET9; LULL1; IFRG15; RP11-12M5.5; FLJ77012; MGC120074; MGC120075; MGC120076; MGC120077; MGC126581; MGC138430
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    Genomic context

    Location :
    1q25.2
    Sequence :
    Chromosome: 1; NC_000001.10 (179809102..179846941, complement)
    See TOR1AIP2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506206 Neighboring gene family with sequence similarity 163, member A Neighboring gene torsin A interacting protein 1 Neighboring gene centrosomal protein 350kDa Neighboring gene ribosomal protein SA pseudogene 16

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732.
    5. LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Vander Heyden AB, et al. Mol Biol Cell, 2009 Jun. PMID 19339278.

    See all (13) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data suggest that LULL1 regulates the distribution and activity of TorA within the ER and NE lumen and reveal functional defects in the mutant protein responsible for DYT1 dystonia.
      Title: LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.
    2. 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
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q8NFQ8 O14656 TOR1A    HPRD  PubMed  
    BioGRID:127870 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:127870 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:127870 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:127870 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:127870 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:127870 BioGRID:115285 USP3    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    interferon alpha responsive protein; torsin-1A-interacting protein 2
    Names
    torsin-1A-interacting protein 2
    lumenal domain like LAP1
    lumenal domain-like LAP1
    interferon responsive gene 15
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    NCBI Reference Sequences (RefSeq)

    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_001199260.1 → NP_001186189.1  torsin-1A-interacting protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains the same 5' non-coding exons, but has a completely different set of coding exons compared to variant 1. This results in a longer isoform b (torsin-1A-interacting protein 2) distinct from isoform a, referred to as interferon alpha responsive protein.
      Source sequence(s)
      AL359853, BC094724, BP222544
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Conserved Domains (1) summary
      pfam05609
      Location:15 – 469
      Blast Score: 1522
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    2. NM_022347.3 → NP_071742.1  interferon alpha responsive protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes isoform a, interferon alpha responsive protein.
      Source sequence(s)
      AK289793, AL359853, BC032790, BP222544
      Consensus CDS
      CCDS53439.1
      UniProtKB/TrEMBL
      Q05BU2
      UniProtKB/TrEMBL
      Q9H496

    3. NM_145034.4 → NP_659471.1  torsin-1A-interacting protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains the same 5' non-coding exons, but has a completely different set of coding exons compared to variant 1. This results in a longer isoform b (torsin-1A-interacting protein 2) distinct from isoform a, referred to as interferon alpha responsive protein.
      Source sequence(s)
      AF464140, AL359853, BP222544
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Related
      ENSP00000356584, OTTHUMP00000033196, ENST00000367612, OTTHUMT00000085304
      Conserved Domains (1) summary
      pfam05609
      Location:15 – 469
      Blast Score: 1522
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      179809102..179846941, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      151040947..151078786, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL359853.18 CAH70382.1
    genomic CH471067.1 EAW91058.1
      EAW91059.1
      EAW91060.1
      EAW91061.1
      EAW91062.1
      EAW91063.1
      EAW91065.1
    genomic CH471067.1 EAW91058.1
      EAW91059.1
      EAW91060.1
      EAW91061.1
      EAW91062.1
      EAW91063.1
      EAW91065.1
    mRNA AF464140.1 AAM50514.1
    mRNA AJ299406.1 CAC13974.1
    mRNA AK002036.1 None
    mRNA AK057623.1 None
    mRNA AK289793.1 BAF82482.1
    mRNA BC032790.1 AAH32790.1
    mRNA BC094724.1 None
    mRNA BC096704.1 AAH96704.1
    mRNA BC098170.1 AAH98170.1
    mRNA BC098309.1 AAH98309.1
    mRNA BC098348.1 AAH98348.1
    mRNA BC101532.1 AAI01533.1
    mRNA BC112225.1 AAI12226.1
    mRNA BP222544.1 None
    other-genetic HQ258428.1 ADR83182.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFQ8.1 GenPept UniProtKB/Swiss-Prot:Q8NFQ8
    Q9H496 GenPept UniProtKB/TrEMBL:Q9H496
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    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Miscellaneous

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