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    TOR1AIP2 torsin 1A interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 163590, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TOR1AIP2provided by HGNC
    Official Full Name
    torsin 1A interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:24055
    See related
    Ensembl:ENSG00000169905 MIM:614513; AllianceGenome:HGNC:24055
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NET9; LULL1; IFRG15
    Summary
    One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in liver (RPKM 4.5), small intestine (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOR1AIP2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179839976..179877803, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179195724..179233552, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179809111..179846938, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 163 member A Neighboring gene uncharacterized LOC105371634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179787655-179788640 Neighboring gene uncharacterized LOC124904463 Neighboring gene long intergenic non-protein coding RNA 2818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2154 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179850786-179851324 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179851325-179851862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2157 Neighboring gene torsin 1A interacting protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:179877971-179878173 Neighboring gene RNA, 7SL, cytoplasmic 230, pseudogene Neighboring gene uncharacterized LOC101928933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2158

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Dissecting Torsin/cofactor function at the nuclear envelope: a genetic study. Laudermilch E, et al. Mol Biol Cell, 2016 Dec 15. PMID 27798237, Free PMC Article
    2. Torsins: not your typical AAA+ ATPases. Rose AE, et al. Crit Rev Biochem Mol Biol, 2015. PMID 26592310, Free PMC Article
    3. The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1. Turner EM, et al. J Virol, 2015 Aug. PMID 26041288, Free PMC Article
    4. Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. Demircioglu FE, et al. Elife, 2016 Aug 4. PMID 27490483, Free PMC Article
    5. A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding. Zhu L, et al. J Biol Chem, 2010 Nov 26. PMID 20861018, Free PMC Article

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 activator interactions that separate the healthy from the diseased state.
      Title: Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
    2. The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1.
      Title: The Torsin Activator LULL1 Is Required for Efficient Growth of Herpes Simplex Virus 1.
    3. LAP1 and LULL1 regulate Torsin ATPase activity through an active site complementation mechanism.
      Title: The mechanism of Torsin ATPase activation.
    4. LAP1 and LULL1 as regulatory cofactors that are responsible for the activation of TorA's ATPase activity.
      Title: Regulation of Torsin ATPases by LAP1 and LULL1.
    5. 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.
    6. 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

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infectivity is inhibited by TOR1AIP2; CRISPR/Cas9 TOR1AIP2 knockout cells increased the infectivity of WT HIV-1 produced suggesting that Env maturation may be constrained by TOR1AIP2 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TOR1AIP2; gp160 and CRISPR/Cas9 TOR1AIP2 knockout cells increase the infectivity of WT HIV-1 produced suggesting that Env maturation may be constrained by TOR1AIP2 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ77012, MGC120074, MGC120075, MGC120076, MGC120077, MGC126581, MGC138430

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane 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 responsive gene 15
    lumenal domain like LAP1
    torsin A interacting protein 2

    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.

    Genomic

    1. NG_053185.1 RefSeqGene

      Range
      5812..43639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199260.2 → NP_001186189.1  torsin-1A-interacting protein 2 isoform b

      See identical proteins and their annotated locations for NP_001186189.1

      Status: REVIEWED

      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
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Related
      ENSP00000477486.1, ENST00000609928.6
      Conserved Domains (1) summary
      pfam05609
      Location:15 → 460
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    2. NM_001349931.2 → NP_001336860.1  interferon alpha responsive protein isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1 and 5, encodes isoform a.
      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS53439.1
      UniProtKB/Swiss-Prot
      Q05BU2, Q9H496
      UniProtKB/TrEMBL
      A0A6B9D1Q5

    3. NM_001349933.1 → NP_001336862.1  interferon alpha responsive protein isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1 and 4, encodes isoform a.
      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS53439.1
      UniProtKB/Swiss-Prot
      Q05BU2, Q9H496
      UniProtKB/TrEMBL
      A0A6B9D1Q5

    4. NM_001349934.2 → NP_001336863.1  torsin-1A-interacting protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2, 3, and 7-9, encodes isoform b.
      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Conserved Domains (1) summary
      pfam05609
      Location:15 → 460
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    5. NM_001349935.2 → NP_001336864.1  torsin-1A-interacting protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 2, 3, 6, 8, and 9, encodes isoform b.
      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Conserved Domains (1) summary
      pfam05609
      Location:15 → 460
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    6. NM_001349936.2 → NP_001336865.1  torsin-1A-interacting protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 2, 3, 6, 7, and 9, encodes isoform b.
      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Conserved Domains (1) summary
      pfam05609
      Location:15 → 460
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    7. NM_001349937.2 → NP_001336866.1  torsin-1A-interacting protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 2, 3, and 6-8, encodes isoform b.
      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1334.1
      UniProtKB/Swiss-Prot
      Q8NFQ8
      Conserved Domains (1) summary
      pfam05609
      Location:15 → 460
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    8. NM_022347.5 → NP_071742.1  interferon alpha responsive protein isoform a

      See identical proteins and their annotated locations for NP_071742.1

      Status: REVIEWED

      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/Swiss-Prot
      Q05BU2, Q9H496
      UniProtKB/TrEMBL
      A0A6B9D1Q5
      Related
      ENSP00000485355.1, ENST00000482587.5

    9. NM_145034.5 → NP_659471.1  torsin-1A-interacting protein 2 isoform b

      See identical proteins and their annotated locations for NP_659471.1

      Status: REVIEWED

      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
      ENSP00000356584.3, ENST00000367612.7
      Conserved Domains (1) summary
      pfam05609
      Location:15 → 460
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      179839976..179877803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447782.1 → XP_047303738.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8NFQ8

    2. XM_047447778.1 → XP_047303734.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8NFQ8

    3. XM_017000476.3 → XP_016855965.1  torsin-1A-interacting protein 2 isoform X2

      Conserved Domains (1) summary
      pfam05609
      Location:1 → 262
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      179195724..179233552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334734.1 → XP_054190709.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8NFQ8

    2. XM_054334733.1 → XP_054190708.1  torsin-1A-interacting protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q8NFQ8

    3. XM_054334735.1 → XP_054190710.1  torsin-1A-interacting protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFQ8.1 GenPept UniProtKB/Swiss-Prot:Q8NFQ8
    Q9H496.1 GenPept UniProtKB/Swiss-Prot:Q9H496

    Gene LinkOut

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

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