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

    Gene ID: 163590, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See TOR1AIP2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (179839976..179877803, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179809102..179847867, 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 long intergenic non-protein coding RNA 2818 Neighboring gene Sharpr-MPRA regulatory region 13766 Neighboring gene torsin 1A interacting protein 1 Neighboring gene RNA, 7SL, cytoplasmic 230, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    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
      5809..43648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199260.2NP_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
      UniProtKB/TrEMBL
      A0A024R957
      Related
      ENSP00000477486.1, ENST00000609928.5
      Conserved Domains (1) summary
      pfam05609
      Location:17468
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
    2. NM_001349931.2NP_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
    3. NM_001349933.1NP_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
    4. NM_001349934.2NP_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
      Conserved Domains (1) summary
      pfam05609
      Location:17468
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
    5. NM_001349935.2NP_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
      Conserved Domains (1) summary
      pfam05609
      Location:17468
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
    6. NM_001349936.2NP_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
      Conserved Domains (1) summary
      pfam05609
      Location:17468
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
    7. NM_001349937.2NP_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
      Conserved Domains (1) summary
      pfam05609
      Location:17468
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
    8. NM_022347.5NP_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
      Q9H496
      Related
      ENSP00000485355.1, ENST00000482587.5
    9. NM_145034.5NP_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
      UniProtKB/TrEMBL
      A0A024R957
      Related
      ENSP00000356584.3, ENST00000367612.7
      Conserved Domains (1) summary
      pfam05609
      Location:17468
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017000476.2XP_016855965.1  torsin-1A-interacting protein 2 isoform X1

      Conserved Domains (1) summary
      pfam05609
      Location:1262
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)
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