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    TOR1AIP1 torsin 1A interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 26092, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TOR1AIP1provided by HGNC
    Official Full Name
    torsin 1A interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29456
    See related
    Ensembl:ENSG00000143337 MIM:614512; AllianceGenome:HGNC:29456
    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
    LAP1; LAP1B; LAP1C; LGMD2Y
    Summary
    This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 27.1), ovary (RPKM 27.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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 (179882285..179920076)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179238027..179275744)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179851420..179889211)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904463 Neighboring gene long intergenic non-protein coding RNA 2818 Neighboring gene torsin 1A interacting protein 2 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 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 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:179923641-179924142 Neighboring gene centrosomal protein 350 Neighboring gene ribosomal protein SA pseudogene 16

    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. TOR1AIP1-Associated Nuclear Envelopathies. Mackels L, et al. Int J Mol Sci, 2023 Apr 7. PMID 37108075, Free PMC Article
    2. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Lessel I, et al. Hum Genet, 2020 Apr. PMID 32055997, Free PMC Article
    3. Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy. Fichtman B, et al. Nat Commun, 2019 Feb 5. PMID 30723199, Free PMC Article
    4. Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. Cali-Daylan AE, et al. Neuromuscul Disord, 2017 Mar. PMID 28110863
    5. LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression. Santos M, et al. Mol Cell Biochem, 2015 Jan. PMID 25323962

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TOR1AIP1-Associated Nuclear Envelopathies.
      Title: TOR1AIP1-Associated Nuclear Envelopathies.
    2. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
      Title: Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
    3. All seven patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C.
      Title: Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
    4. LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis
      Title: Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene.
    5. LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells.
      Title: LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression.
    6. Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis.
      Title: How lamina-associated polypeptide 1 (LAP1) activates Torsin.
    7. study described a new autosomal recessive nuclear envelope disease caused by a homozygous mutation in exon 1 of TOR1AIP1 encoding LAP1B; study expands the spectrum of genes associated with nuclear envelopathies and highlights critical function for LAP1B in striated muscle
      Title: Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
    8. Data indicate that the protein phosphatase 1 (PP1) binding domain in nuclear membrane protein lamina associated polypeptide 1B (LAP1B) was here identified as the REVRF motif at amino acids 55-59.
      Title: The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate.
    9. Molecular cloning of LAP1B & the role of the protein domains in localization of LAP1B to nuclear and endoplasmic reticulum membranes was determined
      Title: Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants.
    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

    Associated conditions

    Description Tests
    Autosomal recessive limb-girdle muscular dystrophy type 2Y
    MedGen: C4511482 OMIM: 617072 GeneReviews: Not available
    		Compare labs

    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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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of HIV-1 Tat with lamina-associated polypeptide 1B in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3413, FLJ13142, DKFZp586G011

    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 cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lamin binding IEA
    Inferred from Electronic Annotation
    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
    		  
    involved_in positive regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    torsin-1A-interacting protein 1
    Names
    lamin-associated protein 1B
    lamina-associated polypeptide 1B
    torsin A interacting protein 1

    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_042316.1 RefSeqGene

      Range
      5244..43035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001267578.2 → NP_001254507.1  torsin-1A-interacting protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL353708, CN360425
      Consensus CDS
      CCDS65737.1
      UniProtKB/TrEMBL
      J3KN66
      Related
      ENSP00000435365.2, ENST00000528443.6
      Conserved Domains (1) summary
      pfam05609
      Location:159 → 583
      LAP1C; Lamina-associated polypeptide 1C (LAP1C)

    2. NM_015602.4 → NP_056417.2  torsin-1A-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_056417.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK021613, AL353708
      Consensus CDS
      CCDS1335.1
      UniProtKB/Swiss-Prot
      A0A0A0MSK5, A8K630, B0QZ57, Q5JTV6, Q5JTV8, Q8IZ65, Q9H8Y6, Q9HAJ1, Q9NV52, Q9Y3X5
      UniProtKB/TrEMBL
      J3KN66
      Related
      ENSP00000476687.1, ENST00000606911.7
      Conserved Domains (1) summary
      pfam05609
      Location:159 → 582
      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
      179882285..179920076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      179238027..179275744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032678.1: Suppressed sequence

      Description
      NM_032678.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JTV8.2 GenPept UniProtKB/Swiss-Prot:Q5JTV8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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