Tor1aip1 torsin A interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tor1aip1provided by MGI
Official Full Name: torsin A interacting protein 1provided by MGI
Primary source: MGI:MGI:3582693
See related: Ensembl:ENSMUSG00000026466 AllianceGenome:MGI:3582693
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: LAP1; Lap1B
Summary: Predicted to enable several functions, including ATPase activator activity; ATPase binding activity; and lamin binding activity. Acts upstream of or within nuclear membrane organization and protein localization to nuclear envelope. Located in nuclear envelope. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and immune system. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Y. Orthologous to human TOR1AIP1 (torsin 1A interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 31.6), adrenal adult (RPKM 16.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 G3; 1 67.69 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (155880328..155912226, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (156004599..156036480, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts.
Title: Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts.
Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.
Title: Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.
results establish an essential role for the nuclear envelope-localized torsinA-LAP1 complex in hepatic VLDL secretion and suggest that the torsinA pathway participates in the pathophysiology of nonalcoholic fatty liver disease.
Title: Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis.
LAP1 interacts physically and functionally with emerin and plays an essential and selective role in skeletal muscle maintenance.
Title: Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance.

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Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (1)

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:234244

AW060462 (e-PCR)
- UniSTS:178481

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 cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables lamin 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 nuclear membrane organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nuclear membrane organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within nuclear membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to nuclear envelope	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
is_active_in nuclear membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: torsin-1A-interacting protein 1

Names: lamina-associated polypeptide 1B

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_001160018.2 → NP_001153490.1 torsin-1A-interacting protein 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC159964

Consensus CDS

CCDS48402.1

UniProtKB/Swiss-Prot

E9QLK1, Q1EQW1, Q3U7A4, Q921T2

Related

ENSMUSP00000095134.4, ENSMUST00000097527.10

Conserved Domains (1) summary

pfam05609
Location:160 → 575

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
NM_001160019.2 → NP_001153491.1 torsin-1A-interacting protein 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC159964

Consensus CDS

CCDS48401.1

UniProtKB/TrEMBL

E9PWW2

Related

ENSMUSP00000126751.2, ENSMUST00000169241.8

Conserved Domains (1) summary

pfam05609
Location:1 → 390

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
NM_001405435.1 → NP_001392364.1 torsin-1A-interacting protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC159964
NM_001405436.1 → NP_001392365.1 torsin-1A-interacting protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC159964

UniProtKB/TrEMBL

E9PWW2
NM_001405437.1 → NP_001392366.1 torsin-1A-interacting protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC159964

UniProtKB/TrEMBL

E9PWW2
NM_001405438.1 → NP_001392367.1 torsin-1A-interacting protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC159964

UniProtKB/TrEMBL

E9PWW2
NM_144791.3 → NP_659040.2 torsin-1A-interacting protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC159964

Consensus CDS

CCDS15387.1

UniProtKB/Swiss-Prot

E9QLK1, Q1EQW1, Q3U7A4, Q921T2

Related

ENSMUSP00000027738.8, ENSMUST00000027738.14

Conserved Domains (2) summary

pfam05609
Location:160 → 519

LAP1C; Lamina-associated polypeptide 1C (LAP1C)

pfam15087
Location:124 → 264

DUF4551; Protein of unknown function (DUF4551)

RNA

NR_175939.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC159964
NR_175940.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC159964
NR_175941.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC159964
NR_175942.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC159964

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

155880328..155912226 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163060.1 → XP_036018953.1 torsin-1A-interacting protein 1 isoform X1

UniProtKB/Swiss-Prot

E9QLK1, Q1EQW1, Q3U7A4, Q921T2

Conserved Domains (2) summary

PRK07003
Location:72 → 202

PRK07003; DNA polymerase III subunit gamma/tau

pfam05609
Location:160 → 589

LAP1C; Lamina-associated polypeptide 1C (LAP1C)