Human Gene TOR1AIP1 (ENST00000606911.7_6) from GENCODE V47lift37
  Description: torsin 1A interacting protein 1, transcript variant 2 (from RefSeq NM_015602.4)
Gencode Transcript: ENST00000606911.7_6
Gencode Gene: ENSG00000143337.19_12
Transcript (Including UTRs)
   Position: hg19 chr1:179,851,420-179,889,211 Size: 37,792 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:179,851,638-179,887,374 Size: 35,737 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:179,851,420-179,889,211)mRNA (may differ from genome)Protein (583 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TOIP1_HUMAN
DESCRIPTION: RecName: Full=Torsin-1A-interacting protein 1; AltName: Full=Lamin-associated protein 1B; Short=LAP1B;
FUNCTION: Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina (By similarity).
SUBUNIT: Interacts with ATP1B4 (By similarity). Interacts with TOR1A.
SUBCELLULAR LOCATION: Nucleus inner membrane; Single-pass membrane protein (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the TOR1AIP family.
SEQUENCE CAUTION: Sequence=AAH23247.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13855.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14461.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAF84184.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TOR1AIP1
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 2y* (520), muscular dystrophy, limb-girdle, type 2a* (50)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.55 RPKM in Esophagus - Gastroesophageal Junction
Total median expression: 417.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.70218-0.278 Picture PostScript Text
3' UTR -480.301837-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008662 - Lamina-ass_polypeptide_CLAP1C

Pfam Domains:
PF05609 - Lamina-associated polypeptide 1C (LAP1C)

ModBase Predicted Comparative 3D Structure on Q5JTV8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001671 ATPase activator activity
GO:0005515 protein binding
GO:0005521 lamin binding
GO:0008092 cytoskeletal protein binding
GO:0051117 ATPase binding

Biological Process:
GO:0032781 positive regulation of ATPase activity
GO:0034504 protein localization to nucleus
GO:0071763 nuclear membrane organization

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AK001780 - Homo sapiens cDNA FLJ10918 fis, clone OVARC1000326.
AK310012 - Homo sapiens cDNA, FLJ17054.
AK021613 - Homo sapiens cDNA FLJ11551 fis, clone HEMBA1002999, moderately similar to Rattus norvegicus lamina associated polypeptide 1C (LAP1C) mRNA.
BC023247 - Homo sapiens torsin A interacting protein 1, mRNA (cDNA clone MGC:24846 IMAGE:3458117), complete cds.
AK023204 - Homo sapiens cDNA FLJ13142 fis, clone NT2RP3003212, moderately similar to Rattus norvegicus lamina associated polypeptide 1C (LAP1C) mRNA.
AK291495 - Homo sapiens cDNA FLJ78048 complete cds, highly similar to Homo sapiens torsin A interacting protein 1, mRNA.
JF432539 - Synthetic construct Homo sapiens clone IMAGE:100073762 torsin A interacting protein 1 (TOR1AIP1) gene, encodes complete protein.
KJ902414 - Synthetic construct Homo sapiens clone ccsbBroadEn_11808 TOR1AIP1 gene, encodes complete protein.
AL050126 - Homo sapiens mRNA; cDNA DKFZp586G011 (from clone DKFZp586G011).
JD444343 - Sequence 425367 from Patent EP1572962.
JD338428 - Sequence 319452 from Patent EP1572962.
JD357776 - Sequence 338800 from Patent EP1572962.
JD300704 - Sequence 281728 from Patent EP1572962.
JD065164 - Sequence 46188 from Patent EP1572962.
JD074416 - Sequence 55440 from Patent EP1572962.
JD090762 - Sequence 71786 from Patent EP1572962.
JD144722 - Sequence 125746 from Patent EP1572962.
JD546262 - Sequence 527286 from Patent EP1572962.
JD221868 - Sequence 202892 from Patent EP1572962.
JD455039 - Sequence 436063 from Patent EP1572962.
JD354830 - Sequence 335854 from Patent EP1572962.
JD385112 - Sequence 366136 from Patent EP1572962.
JD375454 - Sequence 356478 from Patent EP1572962.
JD359560 - Sequence 340584 from Patent EP1572962.
JD359150 - Sequence 340174 from Patent EP1572962.
JD511021 - Sequence 492045 from Patent EP1572962.
JD459765 - Sequence 440789 from Patent EP1572962.
JD562470 - Sequence 543494 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MSK5, A8K630, B0QZ57, ENST00000606911.1, ENST00000606911.2, ENST00000606911.3, ENST00000606911.4, ENST00000606911.5, ENST00000606911.6, LAP1, NM_015602, Q5JTV6, Q5JTV8, Q8IZ65, Q9H8Y6, Q9HAJ1, Q9NV52, Q9Y3X5, TOIP1_HUMAN, uc327kbu.1, uc327kbu.2
UCSC ID: ENST00000606911.7_6
RefSeq Accession: NM_015602.4
Protein: Q5JTV8 (aka TOIP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.