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

Gene ID: 208263, updated on 21-Apr-2024

Summary

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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

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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_000067.7Genomic Context describing neighboring genes Neighboring gene centrosomal protein 350 Neighboring gene STARR-positive B cell enhancer ABC_E9186 Neighboring gene predicted gene, 23744 Neighboring gene predicted gene, 53631 Neighboring gene STARR-seq mESC enhancer starr_02728 Neighboring gene predicted gene, 51653 Neighboring gene torsin A interacting protein 2 Neighboring gene STARR-seq mESC enhancer starr_02733 Neighboring gene family with sequence similarity 163, member A Neighboring gene predicted gene, 30472

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts. Kayman Kürekçi G, et al. Int J Mol Sci, 2022 Nov 6. PMID 36362402, Free PMC Article
  2. Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Shin JY, et al. Dev Cell, 2013 Sep 30. PMID 24055652, Free PMC Article
  3. Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis. Shin JY, et al. J Clin Invest, 2019 Aug 13. PMID 31408437, Free PMC Article
  4. Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1. Wang Y, et al. Hum Mol Genet, 2019 Aug 1. PMID 31009944, Free PMC Article
  5. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Goodchild RE, et al. Neuron, 2005 Dec 22. PMID 16364897

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC6357

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)

  1. 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)

  2. 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)

  3. NM_001405435.1 → NP_001392364.1  torsin-1A-interacting protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC159964

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

    Status: VALIDATED

    Source sequence(s)
    AC159964
    UniProtKB/TrEMBL
    E9PWW2

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

    Status: VALIDATED

    Source sequence(s)
    AC159964
    UniProtKB/TrEMBL
    E9PWW2

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

    Status: VALIDATED

    Source sequence(s)
    AC159964
    UniProtKB/TrEMBL
    E9PWW2

  7. 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

  1. NR_175939.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC159964

  2. NR_175940.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC159964

  3. NR_175941.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC159964

  4. 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

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    155880328..155912226 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q921T2.3 GenPept UniProtKB/Swiss-Prot:Q921T2

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