TOR1AIP1 Gene

Aliases
for TOR1AIP1 gene

(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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Previous GC identifers: GC01P176583 GC01P178118 GC01P151084

Summaries
for TOR1AIP1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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  

SwitchGear Promoter luciferase reporter plasmid: TOR1AIP1 promoter sequence

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

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


GeneLoc information about chromosome 1         GeneLoc Exon Structure

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

Proteins
for TOR1AIP1 gene

(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, antibodies-online, and/or GeneTex,
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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Explore the universe of human proteins at neXtProt for TOR1AIP1: NX_Q5JTV8

Explore proteomics data for TOR1AIP1 at MOPED

Post-translational modifications: 

TOR1AIP1 Human Recombinant Protein Products:

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	antibodies-online proteins for TOR1AIP1
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	antibodies-online antibodies for TOR1AIP1 (15 products)

TOR1AIP1 Assay Products:

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	antibodies-online kits for TOR1AIP1 (6 products)

Domains /
Families
for TOR1AIP1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q5JTV8

Find genes that share domains with TOR1AIP1           About GenesLikeMe

Function
for TOR1AIP1 gene

(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, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

(inferred from 1 allele) (MGI details for Tor1aip1)

genOway: Develop your customized and physiologically relevant rodent model for TOR1AIP1

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

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1

Localization
for TOR1AIP1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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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

Pathways & Interactions
for TOR1AIP1 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 3 biological process terms:    About this table

Drugs & Compounds
for TOR1AIP1 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for TOR1AIP1 gene

(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,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for TOR1AIP1 gene

(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 GenesLikeMe, 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

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

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP1

Orthologs
for TOR1AIP1 gene

(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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Paralogs
for TOR1AIP1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Genomic Variants
for TOR1AIP1 gene

(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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Selected SNPs for TOR1AIP1 (see all 918)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0358184		A breast cancer sample4	--	see VAR_035818	2	V I	mis4		0	--	--	--	--
rs571370481,2	C	--	151081050(+)	TGTGT-/GTGTGT         TAGCA	2	--	us2k1		1		NA	2
rs1130561301,2	C	--	179849178(+)	ATATATG/-TGTGT	2	--	us2k1		1		CSA	2
rs1485854051,2	C	--	179849178(+)	ATATA-/TGTGTG         TGTGT	2	--	us2k1		0	--	--	--	--
rs1392160461,2	C	--	179849243(+)	TTTAC-/AGTA           AGTGT	2	--	us2k1		0	--	--	--	--
rs1847827361,2		--	179849311(+)	CAAAAC/TATGCA	2	--	us2k1		0	--	--	--	--
rs172795941,2	C,F,H	--	179849356(+)	CTCTGA/TTTGTT	2	--	us2k1		10		NA NS EA	804
rs1498948831,2		--	179849393(+)	TTTAAC/TTTGTC	2	--	us2k1		0	--	--	--	--
rs1450095381,2		--	179849695(+)	TAAATC/TTAGCT	2	--	us2k1		0	--	--	--	--
rs1490783261,2	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

Disorders / Diseases
for TOR1AIP1 gene

(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, Sets of similar genes according to GenesLikeMe)
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Publications
for TOR1AIP1 gene

(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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1. 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)
2. 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)
3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (Nature 2006)
4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
6. 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)
7. 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)
8. 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)
9. Regulation of Torsin ATPases by LAP1 and LULL1. (PubMed id 23569223)² Zhao C....Schlieker C. (Proc. Natl. Acad. Sci. U.S.A. 2013)
10. A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)

External Searches for TOR1AIP1 gene

Genome Databases showing TOR1AIP1 gene

Other Databases showing TOR1AIP1 gene

Specialized Databases showing TOR1AIP1 gene

Products
for TOR1AIP1 gene

(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, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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