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Entry version 138 (12 Aug 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Torsin-3A

Gene

TOR3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi167 – 174ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9H497

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Torsin-3A
Alternative name(s):
ATP-dependent interferon-responsive protein
Torsin family 3 member A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TOR3A
Synonyms:ADIR
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000186283.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11997, TOR3A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607555, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H497

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi236E → Q: No effect on subcellular location. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
64222

Open Targets

More...
OpenTargetsi
ENSG00000186283

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36678

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H497, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TOR3A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74752636

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000022814726 – 397Torsin-3AAdd BLAST372

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H497

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H497

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H497

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H497

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H497

PeptideAtlas

More...
PeptideAtlasi
Q9H497

PRoteomics IDEntifications database

More...
PRIDEi
Q9H497

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80801 [Q9H497-1]
80802 [Q9H497-2]
80803 [Q9H497-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9H497, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H497

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H497

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000186283, Expressed in oocyte and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H497, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H497, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000186283, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May not form homohexamers.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
122112, 43 interactors

Database of interacting proteins

More...
DIPi
DIP-59333N

Protein interaction database and analysis system

More...
IntActi
Q9H497, 17 interactors

Molecular INTeraction database

More...
MINTi
Q9H497

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356599

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H497, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H497

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ClpA/ClpB family. Torsin subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2170, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182888

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_053537_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H497

KEGG Orthology (KO)

More...
KOi
K23000

Identification of Orthologs from Complete Genome Data

More...
OMAi
WYCSLGQ

Database of Orthologous Groups

More...
OrthoDBi
1453168at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H497

TreeFam database of animal gene trees

More...
TreeFami
TF314941

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027417, P-loop_NTPase
IPR010448, Torsin
IPR030552, Torsin-3A

The PANTHER Classification System

More...
PANTHERi
PTHR10760, PTHR10760, 1 hit
PTHR10760:SF3, PTHR10760:SF3, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06309, Torsin, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540, SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H497-1) [UniParc]FASTAAdd to basket
Also known as: ADIR1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLRGPWRQLW LFFLLLLPGA PEPRGASRPW EGTDEPGSAW AWPGFQRLQE
60 70 80 90 100
QLRAAGALSK RYWTLFSCQV WPDDCDEDEE AATGPLGWRL PLLGQRYLDL
110 120 130 140 150
LTTWYCSFKD CCPRGDCRIS NNFTGLEWDL NVRLHGQHLV QQLVLRTVRG
160 170 180 190 200
YLETPQPEKA LALSFHGWSG TGKNFVARML VENLYRDGLM SDCVRMFIAT
210 220 230 240 250
FHFPHPKYVD LYKEQLMSQI RETQQLCHQT LFIFDEAEKL HPGLLEVLGP
260 270 280 290 300
HLERRAPEGH RAESPWTIFL FLSNLRGDII NEVVLKLLKA GWSREEITME
310 320 330 340 350
HLEPHLQAEI VETIDNGFGH SRLVKENLID YFIPFLPLEY RHVRLCARDA
360 370 380 390
FLSQELLYKE ETLDEIAQMM VYVPKEEQLF SSQGCKSISQ RINYFLS
Length:397
Mass (Da):46,199
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i459CD18EA22709FE
GO
Isoform 2 (identifier: Q9H497-2) [UniParc]FASTAAdd to basket
Also known as: ADIR2

The sequence of this isoform differs from the canonical sequence as follows:
     315-336: DNGFGHSRLVKENLIDYFIPFL → GFSFLTTRWPHLDLPTSSVAPT
     337-397: Missing.

Show »
Length:336
Mass (Da):38,807
Checksum:i0053B78AF4FE967C
GO
Isoform 3 (identifier: Q9H497-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-216: Missing.

Show »
Length:181
Mass (Da):21,180
Checksum:i7AEBCC4558ABFF73
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5W0C9Q5W0C9_HUMAN
Torsin-3A
TOR3A
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5W0C6Q5W0C6_HUMAN
Torsin-3A
TOR3A
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z3J4F2Z3J4_HUMAN
Torsin-3A
TOR3A
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti272L → P in AAH18292 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02569713F → L3 PublicationsCorresponds to variant dbSNP:rs2296377Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0176651 – 216Missing in isoform 3. 2 PublicationsAdd BLAST216
Alternative sequenceiVSP_017666315 – 336DNGFG…FIPFL → GFSFLTTRWPHLDLPTSSVA PT in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_017667337 – 397Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ299403 mRNA Translation: CAC13973.1
AJ299441 mRNA Translation: CAC14461.1
AJ318044 AJ318049 Genomic DNA Translation: CAC88129.1
AJ318044 AJ318050 Genomic DNA Translation: CAC88130.1
AK025998 mRNA Translation: BAB15312.1
CR457354 mRNA Translation: CAG33635.1
AK299966 mRNA Translation: BAG61792.1
AK316530 mRNA Translation: BAH14901.1
AL139132 Genomic DNA Translation: CAH70928.1
AL139132 Genomic DNA Translation: CAH70929.1
BC001085 mRNA Translation: AAH01085.1
BC007571 mRNA Translation: AAH07571.1
BC011746 mRNA Translation: AAH11746.1
BC018292 mRNA Translation: AAH18292.1
BC088368 mRNA Translation: AAH88368.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1329.1 [Q9H497-1]

NCBI Reference Sequences

More...
RefSeqi
NP_071766.2, NM_022371.3 [Q9H497-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000352445; ENSP00000335351; ENSG00000186283 [Q9H497-2]
ENST00000367627; ENSP00000356599; ENSG00000186283 [Q9H497-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
64222

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64222

UCSC genome browser

More...
UCSCi
uc001gmd.4, human [Q9H497-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ299403 mRNA Translation: CAC13973.1
AJ299441 mRNA Translation: CAC14461.1
AJ318044 AJ318049 Genomic DNA Translation: CAC88129.1
AJ318044 AJ318050 Genomic DNA Translation: CAC88130.1
AK025998 mRNA Translation: BAB15312.1
CR457354 mRNA Translation: CAG33635.1
AK299966 mRNA Translation: BAG61792.1
AK316530 mRNA Translation: BAH14901.1
AL139132 Genomic DNA Translation: CAH70928.1
AL139132 Genomic DNA Translation: CAH70929.1
BC001085 mRNA Translation: AAH01085.1
BC007571 mRNA Translation: AAH07571.1
BC011746 mRNA Translation: AAH11746.1
BC018292 mRNA Translation: AAH18292.1
BC088368 mRNA Translation: AAH88368.1
CCDSiCCDS1329.1 [Q9H497-1]
RefSeqiNP_071766.2, NM_022371.3 [Q9H497-1]

3D structure databases

SMRiQ9H497
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122112, 43 interactors
DIPiDIP-59333N
IntActiQ9H497, 17 interactors
MINTiQ9H497
STRINGi9606.ENSP00000356599

PTM databases

GlyGeniQ9H497, 2 sites
iPTMnetiQ9H497
PhosphoSitePlusiQ9H497

Polymorphism and mutation databases

BioMutaiTOR3A
DMDMi74752636

Proteomic databases

EPDiQ9H497
jPOSTiQ9H497
MassIVEiQ9H497
MaxQBiQ9H497
PaxDbiQ9H497
PeptideAtlasiQ9H497
PRIDEiQ9H497
ProteomicsDBi80801 [Q9H497-1]
80802 [Q9H497-2]
80803 [Q9H497-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
20580, 136 antibodies

The DNASU plasmid repository

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DNASUi
64222

Genome annotation databases

EnsembliENST00000352445; ENSP00000335351; ENSG00000186283 [Q9H497-2]
ENST00000367627; ENSP00000356599; ENSG00000186283 [Q9H497-1]
GeneIDi64222
KEGGihsa:64222
UCSCiuc001gmd.4, human [Q9H497-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64222
DisGeNETi64222
EuPathDBiHostDB:ENSG00000186283.13

GeneCards: human genes, protein and diseases

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GeneCardsi
TOR3A
HGNCiHGNC:11997, TOR3A
HPAiENSG00000186283, Low tissue specificity
MIMi607555, gene
neXtProtiNX_Q9H497
OpenTargetsiENSG00000186283
PharmGKBiPA36678

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2170, Eukaryota
GeneTreeiENSGT00950000182888
HOGENOMiCLU_053537_0_0_1
InParanoidiQ9H497
KOiK23000
OMAiWYCSLGQ
OrthoDBi1453168at2759
PhylomeDBiQ9H497
TreeFamiTF314941

Enzyme and pathway databases

PathwayCommonsiQ9H497

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
64222, 7 hits in 875 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TOR3A, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
64222
PharosiQ9H497, Tbio

Protein Ontology

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PROi
PR:Q9H497
RNActiQ9H497, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000186283, Expressed in oocyte and 223 other tissues
ExpressionAtlasiQ9H497, baseline and differential
GenevisibleiQ9H497, HS

Family and domain databases

InterProiView protein in InterPro
IPR027417, P-loop_NTPase
IPR010448, Torsin
IPR030552, Torsin-3A
PANTHERiPTHR10760, PTHR10760, 1 hit
PTHR10760:SF3, PTHR10760:SF3, 1 hit
PfamiView protein in Pfam
PF06309, Torsin, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTOR3A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H497
Secondary accession number(s): B4DSY0
, B7ZB65, Q5M7Y7, Q8WVA7, Q8WWM2, Q9H495, Q9H6E7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 1, 2001
Last modified: August 12, 2020
This is version 138 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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