Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TOR1AIP1 Gene

Aliases for TOR1AIP1 Gene

  • Torsin A Interacting Protein 1 2 3
  • Lamin-Associated Protein 1B 3 4
  • LAP1B 3 4
  • LAP1 3 4
  • Lamina Associated Polypeptide 1B 2
  • Lamina-Associated Polypeptide 1B 3

External Ids for TOR1AIP1 Gene

Previous GeneCards Identifiers for TOR1AIP1 Gene

  • GC01P176583
  • GC01P178118
  • GC01P151084

Summaries for TOR1AIP1 Gene

Entrez Gene Summary for TOR1AIP1 Gene

  • This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. 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, Jun 2012]

GeneCards Summary for TOR1AIP1 Gene

TOR1AIP1 (Torsin A Interacting Protein 1) is a Protein Coding gene. Diseases associated with TOR1AIP1 include muscular dystrophy with progressive weakness, distal contractures and rigid spine. GO annotations related to this gene include cytoskeletal protein binding and ATPase activator activity. An important paralog of this gene is TOR1AIP2.

UniProtKB/Swiss-Prot for TOR1AIP1 Gene

  • Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.

Gene Wiki entry for TOR1AIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR1AIP1 Gene

Genomics for TOR1AIP1 Gene

Regulatory Elements for TOR1AIP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOR1AIP1 Gene

Chromosome:
1
Start:
179,882,042 bp from pter
End:
179,925,000 bp from pter
Size:
42,959 bases
Orientation:
Plus strand

Genomic View for TOR1AIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TOR1AIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR1AIP1 Gene

Proteins for TOR1AIP1 Gene

  • Protein details for TOR1AIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTV8-TOIP1_HUMAN
    Recommended name:
    Torsin-1A-interacting protein 1
    Protein Accession:
    Q5JTV8
    Secondary Accessions:
    • A8K630
    • B0QZ57
    • Q5JTV6
    • Q8IZ65
    • Q9H8Y6
    • Q9HAJ1
    • Q9NV52
    • Q9Y3X5

    Protein attributes for TOR1AIP1 Gene

    Size:
    583 amino acids
    Molecular mass:
    66248 Da
    Quaternary structure:
    • Interacts with ATP1B4. Interacts with TOR1A (ATP-bound). Interacts with TOR1B, TOR2A and TOR3A. Interacts with VIM.
    SequenceCaution:
    • Sequence=AAH23247.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13855.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14461.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84184.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TOR1AIP1 Gene

    Alternative splice isoforms for TOR1AIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOR1AIP1 Gene

Proteomics data for TOR1AIP1 Gene at MOPED

Post-translational modifications for TOR1AIP1 Gene

  • Ubiquitination at Lys 274, Lys 285, Lys 308, Lys 334, and Lys 556
  • Glycosylation at Asn 399
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TOR1AIP1 Gene

Domains & Families for TOR1AIP1 Gene

Protein Domains for TOR1AIP1 Gene

Suggested Antigen Peptide Sequences for TOR1AIP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JTV8

UniProtKB/Swiss-Prot:

TOIP1_HUMAN :
  • Belongs to the TOR1AIP family.
Family:
  • Belongs to the TOR1AIP family.
genes like me logo Genes that share domains with TOR1AIP1: view

No data available for Gene Families for TOR1AIP1 Gene

Function for TOR1AIP1 Gene

Molecular function for TOR1AIP1 Gene

UniProtKB/Swiss-Prot Function:
Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.

Gene Ontology (GO) - Molecular Function for TOR1AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IDA 23569223
GO:0005515 protein binding --
GO:0005521 lamin binding IEA --
GO:0008092 cytoskeletal protein binding IPI 16361107
GO:0051117 ATPase binding IPI 23569223
genes like me logo Genes that share ontologies with TOR1AIP1: view
genes like me logo Genes that share phenotypes with TOR1AIP1: view

Animal Model Products

CRISPR Products

miRNA for TOR1AIP1 Gene

miRTarBase miRNAs that target TOR1AIP1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOR1AIP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR1AIP1 Gene

Localization for TOR1AIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR1AIP1 Gene

Nucleus inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TOR1AIP1 Gene COMPARTMENTS Subcellular localization image for TOR1AIP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TOR1AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 24275647
GO:0005635 nuclear envelope --
GO:0005637 nuclear inner membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TOR1AIP1: view

Pathways & Interactions for TOR1AIP1 Gene

SuperPathways for TOR1AIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TOR1AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032781 positive regulation of ATPase activity IDA 23569223
GO:0034504 protein localization to nucleus ISS --
GO:0071763 nuclear membrane organization IEA --
genes like me logo Genes that share ontologies with TOR1AIP1: view

No data available for Pathways by source and SIGNOR curated interactions for TOR1AIP1 Gene

Drugs & Compounds for TOR1AIP1 Gene

No Compound Related Data Available

Transcripts for TOR1AIP1 Gene

Unigene Clusters for TOR1AIP1 Gene

Torsin A interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOR1AIP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOR1AIP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - -
SP2: - -
SP3:
SP4: -

Relevant External Links for TOR1AIP1 Gene

GeneLoc Exon Structure for
TOR1AIP1
ECgene alternative splicing isoforms for
TOR1AIP1

Expression for TOR1AIP1 Gene

mRNA expression in normal human tissues for TOR1AIP1 Gene

Protein differential expression in normal tissues from HIPED for TOR1AIP1 Gene

This gene is overexpressed in Lavage (14.2), Peripheral blood mononuclear cells (9.3), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOR1AIP1 Gene



SOURCE GeneReport for Unigene cluster for TOR1AIP1 Gene Hs.496459

genes like me logo Genes that share expression patterns with TOR1AIP1: view

Protein tissue co-expression partners for TOR1AIP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TOR1AIP1 Gene

Orthologs for TOR1AIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TOR1AIP1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TOR1AIP1 35
  • 87.15 (n)
  • 80.55 (a)
TOR1AIP1 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tor1aip1 35
  • 78.26 (n)
  • 71.86 (a)
Tor1aip1 16
Tor1aip1 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOR1AIP1 35
  • 99.54 (n)
  • 99.66 (a)
TOR1AIP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tor1aip1 35
  • 78.78 (n)
  • 72.32 (a)
cow
(Bos Taurus)
Mammalia TOR1AIP1 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TOR1AIP1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR1AIP1 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR1AIP1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR1AIP1 36
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.240 35
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-82a1.6 36
  • 23 (a)
ManyToMany
zgc:112962 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6390 36
  • 23 (a)
OneToMany
Species with no ortholog for TOR1AIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TOR1AIP1 Gene

ENSEMBL:
Gene Tree for TOR1AIP1 (if available)
TreeFam:
Gene Tree for TOR1AIP1 (if available)

Paralogs for TOR1AIP1 Gene

Paralogs for TOR1AIP1 Gene

(1) SIMAP similar genes for TOR1AIP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TOR1AIP1: view

Variants for TOR1AIP1 Gene

Sequence variations from dbSNP and Humsavar for TOR1AIP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs475434 -- 179,894,661(+) actgt(A/C)ggcaa intron-variant
rs476280 -- 179,894,576(+) ccagc(C/T)acttg intron-variant
rs480377 -- 179,910,469(+) GTAAG(A/T)GAGTT intron-variant
rs480498 -- 179,883,961(+) TGATA(C/G)GCGGA intron-variant
rs483561 -- 179,884,971(+) ctaag(A/G)caatt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TOR1AIP1 Gene

Variant ID Type Subtype PubMed ID
nsv518936 CNV Gain 19592680
nsv3744 CNV Insertion 18451855

Variation tolerance for TOR1AIP1 Gene

Residual Variation Intolerance Score: 22.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOR1AIP1 Gene

HapMap Linkage Disequilibrium report
TOR1AIP1
Human Gene Mutation Database (HGMD)
TOR1AIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1AIP1 Gene

Disorders for TOR1AIP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TOR1AIP1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
muscular dystrophy with progressive weakness, distal contractures and rigid spine
  • autosomal recessive muscular dystrophy due to lap1b deficiency
- elite association

Relevant External Links for TOR1AIP1

Human Genome Epidemiology (HuGE) Navigator
TOR1AIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOR1AIP1
genes like me logo Genes that share disorders with TOR1AIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOR1AIP1 Gene

Publications for TOR1AIP1 Gene

  1. Effect of (211)At alpha-particle irradiation on expression of selected radiation responsive genes in human lymphocytes. (PMID: 19382019) Turtoi A. … Schneeweiss F.H. (Int. J. Radiat. Biol. 2009) 23 67
  2. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PMID: 15767459) Goodchild R.E. … Dauer W.T. (J. Cell Biol. 2005) 2 67
  3. Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants. (PMID: 12061773) Kondo Y. … Yoneda Y. (Biochem. Biophys. Res. Commun. 2002) 2 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 67

Products for TOR1AIP1 Gene

Sources for TOR1AIP1 Gene

Back to Top

Content