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

Gene ID: 163590, updated on 13-Mar-2020

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
109.20200228 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

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
    5812..43639
    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 Updated 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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