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TOR1AIP1 Gene

protein-coding GIFtS: 53
GCID: GC01P179851

Torsin A Interacting Protein 1

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Torsin A Interacting Protein 1¹ ²		LAP1² ⁵
LAP1B² ³ ⁵		Lamina-Associated Polypeptide 1B²
Lamina Associated Polypeptide 1B¹ ²		Torsin-1A-Interacting Protein 1²
Lamin-Associated Protein 1B² ³

External Ids:	HGNC: 29456¹	Entrez Gene: 26092²	Ensembl: ENSG00000143337⁷	OMIM: 614512⁵	UniProtKB: Q5JTV8³

Export aliases for TOR1AIP1 gene to outside databases

Previous GC identifers: GC01P176583 GC01P178118 GC01P151084

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include lamin binding. An important paralog of this gene is TOR1AIP2.

UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8

Function: Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.

Induces TOR1A and TOR1B ATPase activity

Gene Wiki entry for TOR1AIP1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NC_018912.2 NT_004487.20

Regulatory elements:

Regulatory transcription factor binding sites in the TOR1AIP1 gene promoter:
RFX1 MAZR Pax-5 ATF-2 RORalpha2 GATA-2 ARP-1 FOXO1a Pax-4a FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TOR1AIP1 promoter sequence

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Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOR1AIP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24.2 Ensembl cytogenetic band: 1q25.2 HGNC cytogenetic band: 1q24.2

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P179851: view genomic region (about GC identifiers)

Start:	179,851,177 bp from pter	End:	179,894,135 bp from pter
Size:	42,959 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8 (See protein sequence)

Recommended Name: Torsin-1A-interacting protein 1

Size: 583 amino acids; 66248 Da

Subunit: Interacts with ATP1B4. Interacts with TOR1A (ATP-bound)

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;

Secondary accessions: A8K630 B0QZ57 Q5JTV6 Q8IZ65 Q9H8Y6 Q9HAJ1 Q9NV52 Q9Y3X5

Alternative splicing: 2 isoforms: Q5JTV8-1 Q5JTV8-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TOR1AIP1: NX_Q5JTV8

Explore proteomics data for TOR1AIP1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys274, Lys285, Lys308, Lys334, Lys556

Glycosylation² at Asn399

Modification sites at PhosphoSitePlus

See TOR1AIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001254507.1 NP_056417.2

ENSEMBL proteins:

ENSP00000435365 ENSP00000271583 ENSP00000476687 ENSP00000393292 ENSP00000434316

ENSP00000432717 ENSP00000433759 ENSP00000393613

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR008662 Lamina-ass_polypeptide_CLAP1C

Graphical View of Domain Structure for InterPro Entry Q5JTV8

ProtoNet protein and cluster: Q5JTV8

UniProtKB/Swiss-Prot: TOIP1_HUMAN, Q5JTV8

Similarity: Belongs to the TOR1AIP family

Find genes that share domains with TOR1AIP1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: TOIP1_HUMAN, Q5JTV8

Function: Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.

Induces TOR1A and TOR1B ATPase activity

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001671	ATPase activator activity	IDA	--
GO:0005515	protein binding	--	--
GO:0005521	lamin binding	--	--
GO:0051117	ATPase binding	IPI	--

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Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tor1aip1):

cellular

mortality/aging

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Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

TOIP1_HUMAN, Q5JTV8: Nucleus inner membrane; Single-pass membrane protein (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2
cytoskeleton	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005635	nuclear envelope	--	--
GO:0005637	nuclear inner membrane	IEA	--
GO:0016021	integral component of membrane	IEA	--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for TOR1AIP1
Interactions:

Search GeneGlobe Interaction Network for TOR1AIP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for TOR1AIP1 (Q5JTV8³ ENSP00000271583⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP1CA	P62136³, ENSP00000326031⁴	I2D: score=1 STRING: ENSP00000326031
LMNA	P02545³, ENSP00000357283⁴	I2D: score=4 STRING: ENSP00000357283
LMNB1	P20700³, ENSP00000261366⁴	I2D: score=2 STRING: ENSP00000261366
TOR1A	ENSP00000345719⁴	STRING: ENSP00000345719
TOR1B	ENSP00000259339⁴	STRING: ENSP00000259339

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032781	positive regulation of ATPase activity	IDA	--
GO:0034504	protein localization to nucleus	--	--
GO:0071763	nuclear membrane organization	--	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for TOR1AIP1 (TOIP1)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
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REFSEQ mRNAs for TOR1AIP1 gene (3 alternative transcripts):

NM_001267578.1 NM_015602.3 NM_032678.1

Unigene Cluster for TOR1AIP1:

Torsin A interacting protein 1

Hs.496459 [show with all ESTs]

Unigene Representative Sequence: NM_001267578

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000528443(uc001gnp.1) ENST00000271583(uc001gnq.3) ENST00000606911

ENST00000435319 ENST00000531630 ENST00000527391 ENST00000529091 ENST00000527867

ENST00000474875 ENST00000531726 ENST00000524653 ENST00000447964

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Additional mRNA sequence:

AK001780.1 AK021613.1 AK023204.1 AK291495.1 AK310012.1 AL050126.1 BC023247.1 BC069736.1

19 DOTS entries:

DT.414835 DT.102828647 DT.206217 DT.100823642 DT.91791112 DT.121385514 DT.100747219 DT.121385532

DT.91753968 DT.91753972 DT.92039054 DT.95089861 DT.100807005 DT.121385500 DT.95089862 DT.95089865

DT.97787950 DT.100801939 DT.91924106

Selected AceView cDNA sequences (see all 153):

AL050126 AA885049 BX474778 AL548450 AU279959 BQ720485 CR591258 BM849599

BF901875 BM851429 BX369105 AL697726 BQ188330 BP873596 CR595831 CB145934

BM848939 AL597483 AA620740 NM_015602 BM852209 BM852229 BQ435161 AL597468

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for TOR1AIP1 About this scheme

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

ECgene alternative splicing isoforms for TOR1AIP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TOR1AIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTTATTGCCC

About this image

TOR1AIP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Brain (Nervous System) fully expand to see all 3 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Bone (Muscoskeletal System)
Bone Marrow

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Testis (Reproductive System)
Leydig Cells Testis Interstitium

TOR1AIP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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TOR1AIP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.496459

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for TOR1AIP1 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tor1aip1^{1 , 5}	torsin A interacting protein 1^{1, 5}	78.26(n)¹ 71.86(a)¹		1 (67.69 cM)⁵ 208263¹ NM_001160018.1¹ NP_001153490.1¹ 156006234⁵
chicken (Gallus gallus)	Aves	TOR1AIP1⁶	torsin A interacting protein 1	41(a)	1 ↔ 1	8(6046688-6054768)
lizard (Anolis carolinensis)	Reptilia	TOR1AIP1⁶	torsin A interacting protein 1	27(a)	1 ↔ 1	4(70638378-70655513)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.240²	Transcribed sequence with weak similarity to protein more	72.65(n)		BX720486.1
zebrafish (Danio rerio)	Actinopterygii	si:dkeyp-82a1.6⁶ zgc:112962⁶	zgc:112962	23(a) 16(a)	many ↔ many many ↔ many	8(21584836-21590389) ENSDARG00000094336 8(21590491-21609772) ENSDARG00000069102

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TOR1AIP1 gene

TOR1AIP2²

1 SIMAP similar gene for TOR1AIP1 using alignment to 6 protein entries: TOIP1_HUMAN (see all proteins):

TOR1AIP2

Find genes that share paralogs with TOR1AIP1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_035818⁴		A breast cancer sample⁴	--	see VAR_035818	2	V I	mis⁴		0	--	--	--	--
rs57137048^1,2	C	--	151081050(+)	`TGTGT-/GTGTGT TAGCA`	2	--	us2k¹		1		NA	2
rs113056130^1,2	C	--	179849178(+)	`ATATATG/-TGTGT`	2	--	us2k¹		1		CSA	2
rs148585405^1,2	C	--	179849178(+)	`ATATA-/TGTGTG TGTGT`	2	--	us2k¹		0	--	--	--	--
rs139216046^1,2	C	--	179849243(+)	`TTTAC-/AGTA AGTGT`	2	--	us2k¹		0	--	--	--	--
rs184782736^1,2		--	179849311(+)	`CAAAAC/TATGCA`	2	--	us2k¹		0	--	--	--	--
rs17279594^1,2	C,F,H	--	179849356(+)	`CTCTGA/TTTGTT`	2	--	us2k¹		10		NA NS EA	804
rs149894883^1,2		--	179849393(+)	`TTTAAC/TTTGTC`	2	--	us2k¹		0	--	--	--	--
rs145009538^1,2		--	179849695(+)	`TAAATC/TTAGCT`	2	--	us2k¹		0	--	--	--	--
rs149078326^1,2	C	--	179849728(+)	`ATCCAA/GACTGA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TOR1AIP1 (179851177 - 179894135 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for TOR1AIP1: About this table

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

Human Gene Mutation Database (HGMD): TOR1AIP1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614512 OMIM disorders: --

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Human Genome Epidemiology (HuGE) Navigator: TOR1AIP1 (1 document)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TOR1AIP1 gene, integrated from 10 sources (see all 41):
(articles sorted by number of sources associating them with TOR1AIP1)

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The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PubMed id 15767459)^{1, 2, 3} Goodchild R.E. and Dauer W.T. (J. Cell Biol. 2005)
Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants. (PubMed id 12061773)^{1, 2, 3} Kondo Y.... Yoneda Y. (Biochem. Biophys. Res. Commun. 2002)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Effect of (211)At alpha-particle irradiation on expression of selected radiation responsive genes in human lymphocytes. (PubMed id 19382019)^{1, 9} Turtoi A. and Schneeweiss F.H. (Int. J. Radiat. Biol. 2009)
Protein phosphatase 1I^ isoforms linked interactions in the brain. (PubMed id 23080069)¹ Esteves S.L....da Cruz e Silva E.F. (J. Mol. Neurosci. 2013)
Regulation of Torsin ATPases by LAP1 and LULL1. (PubMed id 23569223)² Zhao C....Schlieker C. (Proc. Natl. Acad. Sci. U.S.A. 2013)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26092	HGNC: 29456	AceView: LAP1B	Ensembl:ENSG00000143337	euGenes: HUgn26092
ECgene: TOR1AIP1	H-InvDB: TOR1AIP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TOR1AIP1	Pharmacogenomics, SNPs, Pathways

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Patent Information for TOR1AIP1 gene:
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TOR1AIP1 Gene

Torsin A Interacting Protein 1

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