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Aliases for TOR1AIP1 Gene

Aliases for TOR1AIP1 Gene

  • Torsin 1A Interacting Protein 1 2 3 5
  • 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
  • Torsin-1A-Interacting Protein 1 3
  • LGMD2Y 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 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]

GeneCards Summary for TOR1AIP1 Gene

TOR1AIP1 (Torsin 1A Interacting Protein 1) is a Protein Coding gene. Diseases associated with TOR1AIP1 include Muscular Dystrophy, Limb-Girdle, Type 2Y and Muscular Dystrophy, Limb-Girdle, Type 2A. 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

Additional gene information for TOR1AIP1 Gene

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

Genomics for TOR1AIP1 Gene

Regulatory Elements for TOR1AIP1 Gene

Enhancers for TOR1AIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H179880 1.5 ENCODE dbSUPER 21.2 +0.8 780 4 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A ZFP41 MEF2D ZNF610 LHX4 TOR1AIP1 CEP350 TOR3A ACBD6 ENSG00000261831 TOR1AIP2 FAM163A AXDND1 ENSG00000272906
GH01H179080 1.4 ENCODE dbSUPER 11.1 -799.3 -799308 4 HNRNPUL1 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 CEP350 TOR3A TOR1AIP1 ABL2 AXDND1 GC01M179080 GC01M179101 PIR61676
GH01H180116 1.5 Ensembl ENCODE dbSUPER 10 +235.5 235538 2 FOXA2 ATF1 MLX ARNT ARID4B TCF12 GATA2 FOS ATF7 SP5 QSOX1 ACBD6 TOR1AIP1 TOR1AIP2 ENSG00000261831 ENSG00000261817 RPS24P5
GH01H180026 1 FANTOM5 ENCODE 12.5 +145.5 145456 2 SCRT1 JUN MAFG CEBPB EP300 YY1 JUND ZNF316 MAFF HNF4A TOR1AIP1 TOR1AIP2 ENSG00000261831 CEP350 RPS24P5 ENSG00000261817
GH01H179930 1 ENCODE 10.7 +49.0 49039 0 FEZF1 BRCA1 FOS DEK SP3 TSHZ1 ZNF518A MAFF STAT3 SP7 TOR1AIP1 TOR1AIP2 GC01P179922 ENSG00000261831
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOR1AIP1 on UCSC Golden Path with GeneCards custom track

Promoters for TOR1AIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016492 858 3001 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A ZFP41 MEF2D ZNF610

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

Genes around TOR1AIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR1AIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TOR1AIP1 Gene

  • Ubiquitination at posLast=274274, Lys285, posLast=308308, posLast=334334, and Lys556
  • Glycosylation at posLast=399399
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TOR1AIP1 Gene

Domains & Families for TOR1AIP1 Gene

Gene Families for TOR1AIP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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 IPI 21044950
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

  • Taconic Biosciences Mouse Models for TOR1AIP1

CRISPR Products

miRNA for TOR1AIP1 Gene

miRTarBase miRNAs that target TOR1AIP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOR1AIP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOR1AIP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOR1AIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24275647
GO:0005635 nuclear envelope IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0016020 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

Clone Products

  • Applied Biological Materials Clones for TOR1AIP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TOR1AIP1 Gene



Protein tissue co-expression partners for TOR1AIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TOR1AIP1 Gene:

TOR1AIP1

SOURCE GeneReport for Unigene cluster for TOR1AIP1 Gene:

Hs.496459

mRNA Expression by UniProt/SwissProt for TOR1AIP1 Gene:

Q5JTV8-TOIP1_HUMAN
Tissue specificity: Expressed in muscle, liver and kidney.

Evidence on tissue expression from TISSUES for TOR1AIP1 Gene

  • Liver(4.4)
  • Nervous system(4.3)
  • Blood(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TOR1AIP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TOR1AIP1 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia TOR1AIP1 33 34
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Tor1aip1 33
  • 78.78 (n)
mouse
(Mus musculus)
Mammalia Tor1aip1 33 16 34
  • 78.26 (n)
cow
(Bos Taurus)
Mammalia TOR1AIP1 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TOR1AIP1 34
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR1AIP1 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR1AIP1 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR1AIP1 34
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.240 33
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-82a1.6 34
  • 23 (a)
ManyToMany
zgc:112962 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6390 34
  • 23 (a)
OneToMany
Species where no ortholog for TOR1AIP1 was found in the sources mined by GeneCards:
  • 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
rs775134055 A breast cancer sample 179,889,327(+) ATCTT(A/G)TAATC reference, missense
rs879255612 Pathogenic 179,882,688(+) GACGA(-/G)CCGCC reference, frameshift-variant
rs146164995 Likely benign 179,889,335(+) ATCAG(A/G)TTACG reference, synonymous-codon
rs886038426 Likely benign 179,918,250(+) GAGAG(-/A)GAAGA utr-variant-3-prime
rs886038427 Likely benign 179,882,994(+) GAGGT(-/T)AACAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv473n100 CNV gain 25217958
nsv3744 CNV insertion 18451855
nsv518936 CNV gain 19592680

Variation tolerance for TOR1AIP1 Gene

Residual Variation Intolerance Score: 23% 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

Human Gene Mutation Database (HGMD)
TOR1AIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR1AIP1

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

Disorders for TOR1AIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TOR1AIP1 Gene - From: OMIM, GeneTests, and Orphanet

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2y
  • muscular dystrophy, limb-girdle, type 2e
muscular dystrophy, limb-girdle, type 2a
  • calpainopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TOIP1_HUMAN
  • Limb-girdle muscular dystrophy 2Y (LGMD2Y) [MIM:617072]: An autosomal recessive form of limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2Y is characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. {ECO:0000269 PubMed:24856141}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 Genatlas for TOR1AIP1 Gene

Publications for TOR1AIP1 Gene

  1. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PMID: 15767459) Goodchild RE … Dauer WT (The Journal of cell biology 2005) 2 3 4 60
  2. 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 (Biochemical and biophysical research communications 2002) 2 3 4 60
  3. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4 60
  4. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. (PMID: 24856141) Kayman-Kurekci G … Dincer P (Neuromuscular disorders : NMD 2014) 3 4 60
  5. Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C … Schlieker C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 60

Products for TOR1AIP1 Gene

Sources for TOR1AIP1 Gene

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