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] See more...

Aliases for TOR1AIP1 Gene

Aliases for TOR1AIP1 Gene

  • Torsin 1A Interacting Protein 1 2 3 5
  • Torsin-1A-Interacting Protein 1 3 4
  • Torsin A Interacting Protein 1 2 3
  • Lamin-Associated Protein 1B 3 4
  • LAP1B 3 4
  • LAP1 3 4
  • Lamina-Associated Polypeptide 1B 3
  • Lamina Associated Polypeptide 1B 2
  • LGMD2Y 3

External Ids for TOR1AIP1 Gene

Previous GeneCards Identifiers for TOR1AIP1 Gene

  • GC01P176583
  • GC01P178118
  • GC01P179851
  • 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 Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures and Dysferlinopathy. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for TOR1AIP1 Gene

Genomics for TOR1AIP1 Gene

GeneHancer (GH) Regulatory Elements for TOR1AIP1 Gene

Promoters and enhancers for TOR1AIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOR1AIP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TOR1AIP1 gene promoter:
  • ARP-1
  • ATF-2
  • FOXO1
  • FOXO1a
  • GATA-2
  • MAZR
  • Pax-4a
  • Pax-5
  • RFX1
  • RORalpha2

Genomic Locations for TOR1AIP1 Gene

Genomic Locations for TOR1AIP1 Gene
chr1:179,882,042-179,925,000
(GRCh38/hg38)
Size:
42,959 bases
Orientation:
Plus strand
chr1:179,851,177-179,894,135
(GRCh37/hg19)
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

  • Glycosylation at Asn399
  • Ubiquitination at Lys274, Lys285, Lys308, Lys334, and Lys556
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TOIP1_HUMAN (1822)

No data available for DME Specific Peptides for TOR1AIP1 Gene

Domains & Families for TOR1AIP1 Gene

Gene Families for TOR1AIP1 Gene

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

Protein Domains for TOR1AIP1 Gene

Suggested Antigen Peptide Sequences for TOR1AIP1 Gene

GenScript: Design optimal peptide antigens:
  • Torsin A interacting protein 1 (B1AMI8_HUMAN)
  • Torsin-1A-interacting protein 1 (TOIP1_HUMAN)

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.

Phenotypes From GWAS Catalog for TOR1AIP1 Gene

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

Human Phenotype Ontology for TOR1AIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TOR1AIP1 Gene

MGI Knock Outs for TOR1AIP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TOR1AIP1

CRISPR Products

miRNA for TOR1AIP1 Gene

miRTarBase miRNAs that target TOR1AIP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 IDA,IEA 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

PathCards logo

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 --
GO:0090435 protein localization to nuclear envelope 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

mRNA/cDNA for TOR1AIP1 Gene

CRISPR Products

Clone 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 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, 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

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 32
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TOR1AIP1 33 32
  • 87.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tor1aip1 32
  • 78.78 (n)
mouse
(Mus musculus)
Mammalia Tor1aip1 17 33 32
  • 78.26 (n)
cow
(Bos Taurus)
Mammalia TOR1AIP1 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TOR1AIP1 33
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR1AIP1 33
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR1AIP1 33
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR1AIP1 33
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.240 32
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-82a1.6 33
  • 23 (a)
ManyToMany
zgc:112962 33
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6390 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TOR1AIP1: view image

Paralogs for TOR1AIP1 Gene

Paralogs for TOR1AIP1 Gene

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

  • TOIP1_HUMAN
  • H0Y4R4_HUMAN
  • H0YD16_HUMAN
  • H0YDJ8_HUMAN
  • H0YDU3_HUMAN
  • J3KN66_HUMAN
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 Variation AA Info Type
rs1045988718 uncertain-significance, Muscular dystrophy, limb-girdle, type 2y 179,914,052(+) G/A coding_sequence_variant, missense_variant
rs115742637 benign, Muscular dystrophy, limb-girdle, type 2y 179,913,999(+) T/C coding_sequence_variant, synonymous_variant
rs1281378 benign, not specified, - 179,882,939(+) T/C/G coding_sequence_variant, missense_variant
rs1289941681 uncertain-significance, Muscular dystrophy, limb-girdle, type 2y 179,882,748(+) A/C/T coding_sequence_variant, synonymous_variant
rs139690983 likely-benign, Muscular dystrophy, limb-girdle, type 2y 179,882,657(+) A/T coding_sequence_variant, missense_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)

Additional Variant Information 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

(4) MalaCards diseases for TOR1AIP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TOIP1_HUMAN
  • Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC) [MIM:617072]: An autosomal recessive degenerative myopathy 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.

Additional Disease Information for 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 56
  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 56
  3. 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 56
  4. Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4 56
  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 56

Products for TOR1AIP1 Gene

Sources for TOR1AIP1 Gene