Tor1aip2 torsin A interacting protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tor1aip2provided by MGI
Official Full Name: torsin A interacting protein 2provided by MGI
Primary source: MGI:MGI:3582695
See related: Ensembl:ENSMUSG00000050565 AllianceGenome:MGI:3582695
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 15kDa; Lull1; Ifrg15; A130072J07; 1110020D10Rik
Summary: Predicted to enable ATPase activator activity and ATPase binding activity. Predicted to be involved in several processes, including endoplasmic reticulum organization; positive regulation of ATP-dependent activity; and protein localization to nuclear envelope. Located in endoplasmic reticulum. Is expressed in several structures, including 1st branchial arch mandibular component mesenchyme; alimentary system; central nervous system; sensory organ; and skin. Orthologous to human TOR1AIP2 (torsin 1A interacting protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 24.5), large intestine adult (RPKM 11.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 G3; 1 67.7 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (155911410..155944607)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (156035664..156068861)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Preimplantation embryo development was arrested at the 1-cell stage after knocking down Ifrg15 expression.
Title: The interferon α-responsive gene, Ifrg15, plays vital roles during mouse early embryonic development.
The data suggest that LULL1 oligomerizes to engage and transiently disassemble torsinA oligomers, and is thereby positioned to transduce cytoplasmic signals to the inner nuclear membrane through torsinA.
Title: Access of torsinA to the inner nuclear membrane is activity dependent and regulated in the endoplasmic reticulum.
Ifrg15 transcription might be either potentially regulated or dependent on the post-transcriptional effects of IFN-alpha mediated by the three genes Oct4, c-Myc and Nanog indirectly
Title: Sequence analysis, expression patterns and transcriptional regulation of mouse Ifrg15 during preimplantation embryonic development.
These results suggest that Ifrg15 is closely related to odontogenesis, especially the differentiation of the ameloblasts and odontoblasts, and to the morphogenesis of the craniofacial organs.
Title: In situ expression of 15 kDa interferon alpha responsive gene in the developing tooth germ of the mouse lower first molar.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:234243

NoName (e-PCR)
- UniSTS:234245

RH126232 (e-PCR)
- UniSTS:162940

AW742543 (e-PCR)
- UniSTS:207236

Tor1aip2 (e-PCR), detects polymorphism
- UniSTS:548047

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase activator activity	ISO Inferred from Sequence Orthology more info
enables ATPase binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in protein localization to nuclear envelope	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor 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 alpha responsive gene, 15 kDa; interferon alpha responsive protein (15 kDa); lumenal domain like LAP1

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.

mRNA and Protein(s)

NM_001160180.1 → NP_001153652.1 interferon alpha responsive protein isoform a

See identical proteins and their annotated locations for NP_001153652.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 1 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).

Source sequence(s)

AK032697, AK150303, BY254976

Consensus CDS

CCDS15388.1

UniProtKB/Swiss-Prot

Q3U8P1, Q3UAA2, Q9D178, Q9ER81

UniProtKB/TrEMBL

Q8BK77

Related

ENSMUSP00000107383.3, ENSMUST00000111754.9
NM_001160181.1 → NP_001153653.1 interferon alpha responsive protein isoform a

See identical proteins and their annotated locations for NP_001153653.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 3 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).

Source sequence(s)

AK032697, AK150303, BY029314

Consensus CDS

CCDS15388.1

UniProtKB/Swiss-Prot

Q3U8P1, Q3UAA2, Q9D178, Q9ER81

UniProtKB/TrEMBL

Q8BK77

Related

ENSMUSP00000095133.3, ENSMUST00000097526.3
NM_001160182.1 → NP_001153654.1 interferon alpha responsive protein isoform a

See identical proteins and their annotated locations for NP_001153654.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 4 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).

Source sequence(s)

AA030492, AK032697, AK150303, BU614106

Consensus CDS

CCDS15388.1

UniProtKB/Swiss-Prot

Q3U8P1, Q3UAA2, Q9D178, Q9ER81

UniProtKB/TrEMBL

Q8BK77

Related

ENSMUSP00000135107.2, ENSMUST00000128941.8
NM_001358626.1 → NP_001345555.1 torsin-1A-interacting protein 2 isoform b

Status: VALIDATED

Source sequence(s)

AC159964

Consensus CDS

CCDS15389.1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Related

ENSMUSP00000050817.5, ENSMUST00000060404.5

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
NM_001358627.1 → NP_001345556.1 torsin-1A-interacting protein 2 isoform b

Status: VALIDATED

Source sequence(s)

AC159964

Consensus CDS

CCDS15389.1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
NM_022329.4 → NP_071724.1 interferon alpha responsive protein isoform a

See identical proteins and their annotated locations for NP_071724.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) shares a portion of its 5' UTR, but uses a completely different set of coding exons compared to variant 5. Variant 2 encodes a shorter protein (interferon alpha responsive protein), which is distinct from torsin A interacting protein 2). Variants 1-4 encode the same protein (isoform a).

Source sequence(s)

AK032697, AK150303, BY029314

Consensus CDS

CCDS15388.1

UniProtKB/Swiss-Prot

Q3U8P1, Q3UAA2, Q9D178, Q9ER81

UniProtKB/TrEMBL

Q8BK77

Related

ENSMUSP00000067353.9, ENSMUST00000065648.15
NM_172843.4 → NP_766431.3 torsin-1A-interacting protein 2 isoform b

See identical proteins and their annotated locations for NP_766431.3

Status: VALIDATED

Description

Transcript Variant: This variant (5) represents the longest transcript and encodes the longer isoform b (torsin-1A-interacting protein 2), compared to isoform a. Variants 5, 6, and 7 encode the same isoform (b).

Source sequence(s)

AC159964, AK038024

Consensus CDS

CCDS15389.1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Related

ENSMUSP00000107387.4, ENSMUST00000111757.10

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

155911410..155944607

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006529587.4 → XP_006529650.1 torsin-1A-interacting protein 2 isoform X1

See identical proteins and their annotated locations for XP_006529650.1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_011248003.2 → XP_011246305.1 torsin-1A-interacting protein 2 isoform X1

See identical proteins and their annotated locations for XP_011246305.1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_036164794.1 → XP_036020687.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_006529589.4 → XP_006529652.1 torsin-1A-interacting protein 2 isoform X1

See identical proteins and their annotated locations for XP_006529652.1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_036164790.1 → XP_036020683.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_030254004.2 → XP_030109864.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_036164791.1 → XP_036020684.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_036164793.1 → XP_036020686.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_017320551.3 → XP_017176040.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
XM_036164792.1 → XP_036020685.1 torsin-1A-interacting protein 2 isoform X1

UniProtKB/Swiss-Prot

Q6NY10, Q8BJP0, Q8BYU6

Conserved Domains (1) summary

pfam05609
Location:28 → 492

LAP1C; Lamina-associated polypeptide 1C (LAP1C)