Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms of Use
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
GeneCards Plus
- Premium Tools
  
  Learn more

Set Analyses:

VarElect

Advanced Search

TOR1AIP1 Gene

protein-coding GIFtS: 53
GCID: GC01P179851

Torsin A Interacting Protein 1

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

TryGeneCards Plus

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)
About This Section

TryGeneCards Plus

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 breast and colorectal cancer, and tonsillitis. 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)
About This Section

TryGeneCards Plus

RefSeq DNA sequence:

NC_000001.11 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

Search Chromatin IP Primers for TOR1AIP1

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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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

TOR1AIP1 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for TOR1AIP1 OriGene Protein Over-expression Lysate for TOR1AIP1 OriGene MassSpec for TOR1AIP1 OriGene Custom Protein Services for TOR1AIP1
	GenScript Custom Purified and Recombinant Proteins Services for TOR1AIP1
	Novus Biologicals TOR1AIP1 Protein Novus Biologicals TOR1AIP1 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for TOR1AIP1

TOR1AIP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TOR1AIP1
	Browse R&D Systems for Antibodies
	OriGene Antibodies for TOR1AIP1 OriGene Custom Antibody Services for TOR1AIP1
	Novus Biologicals TOR1AIP1 Antibodies
	Abcam antibodies for TOR1AIP1
	Cloud-Clone Corp. Antibodies for TOR1AIP1
	ThermoFisher Antibody for TOR1AIP1
	Search LSBio for Antibodies for TOR1AIP1

TOR1AIP1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for TOR1AIP1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TOR1AIP1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for TOR1AIP1 Cloud-Clone Corp. CLIAs for TOR1AIP1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus

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

TOR1AIP1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

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	--

TOR1AIP1 for ontologies About GeneDecksing

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

cellular

mortality/aging

TOR1AIP1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TOR1AIP1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TOR1AIP1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TOR1AIP1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TOR1AIP1

miRNA Products:		miRTarBase miRNAs that target TOR1AIP1: hsa-mir-192-5p (MIRT026145), hsa-mir-101-3p (MIRT027250), hsa-mir-215-5p (MIRT024930)

		Block miRNA regulation of human, mouse, rat TOR1AIP1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate TOR1AIP1 (see all 32):
		hsa-miR-548j hsa-miR-330-5p hsa-miR-29b-1* hsa-miR-3162-5p hsa-miR-1304 hsa-miR-1276 hsa-miR-326 hsa-miR-3613-3p

		SwitchGear 3'UTR luciferase reporter plasmid: TOR1AIP1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for TOR1AIP1
		Predesigned siRNA for gene silencing in human, mouse, rat TOR1AIP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TOR1AIP1

Clone Products:		OriGene clones in human, mouse for TOR1AIP1 (see all 6) OriGene ORF clones in mouse, rat for TOR1AIP1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TOR1AIP1 (NM_015602)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOR1AIP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TOR1AIP1
		Browse ESI BIO Cell Lines and PureStem Progenitors for TOR1AIP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

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

About this image

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	--

TOR1AIP1 for ontologies About GeneDecksing

(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).
About This Section

TryGeneCards Plus

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

About this table

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	--	--

TOR1AIP1 for ontologies About GeneDecksing

(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)
About This Section

TryGeneCards Plus

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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,
Conferences by KenesGroup, 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,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

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

miRNA Products:		Block miRNA regulation of human, mouse, rat TOR1AIP1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate TOR1AIP1 (see all 32):
		hsa-miR-548j hsa-miR-330-5p hsa-miR-29b-1* hsa-miR-3162-5p hsa-miR-1304 hsa-miR-1276 hsa-miR-326 hsa-miR-3613-3p

		SwitchGear 3'UTR luciferase reporter plasmid: TOR1AIP1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for TOR1AIP1
		Predesigned siRNA for gene silencing in human, mouse, rat TOR1AIP1

Clone Products:		OriGene clones in human, mouse for TOR1AIP1 (see all 6) OriGene ORF clones in mouse, rat for TOR1AIP1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TOR1AIP1 (NM_015602)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TOR1AIP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP1

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for TOR1AIP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat TOR1AIP1
		QuantiTect SYBR Green Assays in human, mouse, rat TOR1AIP1
		QuantiFast Probe-based Assays in human, mouse, rat TOR1AIP1

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)
About This Section

TryGeneCards Plus

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:

About this image

TOR1AIP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.496459

Custom PCR Arrays for TOR1AIP1

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for TOR1AIP1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat TOR1AIP1
		QuantiTect SYBR Green Assays in human, mouse, rat TOR1AIP1
		QuantiFast Probe-based Assays in human, mouse, rat TOR1AIP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1

(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)
About This Section

TryGeneCards Plus

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)
About This Section

TryGeneCards Plus

Paralogs for TOR1AIP1 gene

TOR1AIP2²

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

TOR1AIP2

TOR1AIP1 for paralogs About GeneDecksing

(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)
About This Section

TryGeneCards Plus

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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing TOR1AIP1

DNA2.0 Custom Variant and Variant Library Synthesis for TOR1AIP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus

OMIM gene information: 614512 OMIM disorders: --

10 diseases for TOR1AIP1:
About MalaCards

breast and colorectal cancer tonsillitis hiv-1 multiple myeloma

myeloma colorectal cancer thyroiditis cerebritis

endotheliitis prostatitis

TOR1AIP1 for disorders About GeneDecksing

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

Export disorders for TOR1AIP1 gene to outside databases

(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)
About This Section

TryGeneCards Plus

PubMed articles for TOR1AIP1 gene, integrated from 10 sources (see all 41):
(articles sorted by number of sources associating them with TOR1AIP1)

Utopia: connect your pdf to the dynamic
world of online information

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)
About This Section

TryGeneCards Plus

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

TryGeneCards Plus

Entrez Gene: 26092	HGNC: 29456	AceView: LAP1B	Ensembl:ENSG00000143337	euGenes: HUgn26092
ECgene: TOR1AIP1	H-InvDB: TOR1AIP1

(According to HUGE)
About This Section

TryGeneCards Plus

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus

Name	Description
PharmGKB entry for TOR1AIP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TOR1AIP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

TryGeneCards Plus

Patent Information for TOR1AIP1 gene:
Search GeneIP for patents involving TOR1AIP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

TryGeneCards Plus

	Browse Kits and Assays available from EMD Millipore
	Browse Small Molecules at EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of TOR1AIP1
	Browse Purified and Recombinant Proteins at EMD Millipore

	EMD Millipore genomic analysis products

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Enzyme Activity Assays/Reagents
	Browse ELISpot/FluoroSpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Luminex Assays
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Recombinant/Natural Proteins		Browse Stem Cell Products
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	OriGene Antibodies for TOR1AIP1		OriGene RNAi products in human, mouse, rat for TOR1AIP1
	Browse OriGene qPCR primer pairs and template standards		OriGene Protein Over-expression Lysate for TOR1AIP1
	OriGene MassSpec something-or-other for TOR1AIP1		OriGene clones in human, mouse for TOR1AIP1
	OriGene qSTAR qPCR primer pairs in human, mouse for TOR1AIP1		OriGene Purified Protein for TOR1AIP1
	OriGene ORF clones in mouse, rat for TOR1AIP1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for TOR1AIP1		OriGene Custom Protein Services for TOR1AIP1

	Block miRNA regulation of human, mouse, rat TOR1AIP1 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing TOR1AIP1
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOR1AIP1		Predesigned siRNA for gene silencing in human, mouse, rat TOR1AIP1
	QuantiFast Probe-based Assays in human, mouse, rat TOR1AIP1		QuantiTect SYBR Green Assays in human, mouse, rat TOR1AIP1
	Custom PCR Arrays for TOR1AIP1		Search Chromatin IP Primers for TOR1AIP1
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat TOR1AIP1		Search GeneGlobe Interaction Network for TOR1AIP1
	Regulatory tfbs in TOR1AIP1 promoter

	GenScript Custom Purified and Recombinant Proteins Services for TOR1AIP1		GenScript cDNA clones with any tag delivered in your preferred vector for TOR1AIP1
	GenScript Custom Assay Services for TOR1AIP1		GenScript Custom overexpressing Cell Line Services for TOR1AIP1
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

Search for Antibodies & Assays

Search Tocris compounds for TOR1AIP1 (TOIP1)

	Browse Sino Biological Proteins
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	TOR1AIP1 antibodies
	TOR1AIP1 proteins
	TOR1AIP1 lysates

	Antibodies for TOR1AIP1
	See all of Abcam's Antibodies, Kits and Proteins for TOR1AIP1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Proteins for TOR1AIP1
	Antibodies for TOR1AIP1
	ELISAs for TOR1AIP1
	CLIAs for TOR1AIP1

Browse ESI BIO Cell Lines and PureStem Progenitors for TOR1AIP1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1

	SwitchGear 3'UTR luciferase reporter plasmids for TOR1AIP1
	SwitchGear Promoter luciferase reporter plasmids for TOR1AIP1

ThermoFisher Antibody for TOR1AIP1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP1

	inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TOR1AIP1
	inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TOR1AIP1

Search LSBio for Antibodies for TOR1AIP1

Customized transgenic rodents for:

	Humanization
	Biomarker expression
	Off-target effect monitoring
	Translational medicine
	Tissue-specific gene expresssion
	Time-controlled gene expresssion

Browse compounds at ApexBio

GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

View Random Gene

Category			(GIFtS: )
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TOR1AIP1 gene at Home site.

Version: 3.12.142 28 July 2014
hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4

GeneCards Plus

Advanced Search

Export list of displayed genes

TOR1AIP1 Gene

Torsin A Interacting Protein 1

Aliases
for TOR1AIP1 gene

Summaries
for TOR1AIP1 gene

Genomic Views
for TOR1AIP1 gene

Proteins
for TOR1AIP1 gene

TOR1AIP1 Human Recombinant Protein Products:

TOR1AIP1 Antibody Products:

TOR1AIP1 Assay Products:

Domains /
Families
for TOR1AIP1 gene

Function
for TOR1AIP1 gene

Localization
for TOR1AIP1 gene

Pathways & Interactions
for TOR1AIP1 gene

Drugs & Compounds
for TOR1AIP1 gene

Transcripts
for TOR1AIP1 gene

Expression
for TOR1AIP1 gene

Orthologs
for TOR1AIP1 gene

Paralogs
for TOR1AIP1 gene

Genomic Variants
for TOR1AIP1 gene

Disorders / Diseases
for TOR1AIP1 gene

Publications
for TOR1AIP1 gene

External Searches for TOR1AIP1 gene

Genome Databases showing TOR1AIP1 gene

Other Databases showing TOR1AIP1 gene

Specialized Databases showing TOR1AIP1 gene

Intellectual Property
for TOR1AIP1 gene

Products
for TOR1AIP1 gene

View Random Gene

GeneCards Plus

Advanced Search

Export list of displayed genes

TOR1AIP1 Gene

Torsin A Interacting Protein 1

Aliasesfor TOR1AIP1 gene

Summariesfor TOR1AIP1 gene

Genomic Viewsfor TOR1AIP1 gene

Proteinsfor TOR1AIP1 gene

TOR1AIP1 Human Recombinant Protein Products:

TOR1AIP1 Antibody Products:

TOR1AIP1 Assay Products:

Domains /Familiesfor TOR1AIP1 gene

Functionfor TOR1AIP1 gene

Localizationfor TOR1AIP1 gene

Pathways & Interactionsfor TOR1AIP1 gene

Drugs & Compoundsfor TOR1AIP1 gene

Transcriptsfor TOR1AIP1 gene

Expression for TOR1AIP1 gene

Orthologsfor TOR1AIP1 gene

Paralogsfor TOR1AIP1 gene

Genomic Variantsfor TOR1AIP1 gene

Disorders / Diseasesfor TOR1AIP1 gene

Publicationsfor TOR1AIP1 gene

External Searches for TOR1AIP1 gene

Genome Databases showing TOR1AIP1 gene

Other Databases showing TOR1AIP1 gene

Specialized Databases showing TOR1AIP1 gene

Intellectual Propertyfor TOR1AIP1 gene

Productsfor TOR1AIP1 gene

View Random Gene

Aliases
for TOR1AIP1 gene

Summaries
for TOR1AIP1 gene

Genomic Views
for TOR1AIP1 gene

Proteins
for TOR1AIP1 gene

Domains /
Families
for TOR1AIP1 gene

Function
for TOR1AIP1 gene

Localization
for TOR1AIP1 gene

Pathways & Interactions
for TOR1AIP1 gene

Drugs & Compounds
for TOR1AIP1 gene

Transcripts
for TOR1AIP1 gene

Expression
for TOR1AIP1 gene

Orthologs
for TOR1AIP1 gene

Paralogs
for TOR1AIP1 gene

Genomic Variants
for TOR1AIP1 gene

Disorders / Diseases
for TOR1AIP1 gene

Publications
for TOR1AIP1 gene

Intellectual Property
for TOR1AIP1 gene

Products
for TOR1AIP1 gene