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

Gene ID: 163590, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179839976..179877803, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179195724..179233552, complement)
105.20220307 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 (78) 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)

Genotypes

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_2023_10

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

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