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Entry version 142 (17 Jun 2020)
Sequence version 2 (15 May 2007)
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Protein

Torsin-4A

Gene

TOR4A

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

Annotation score:3 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 bindingi194 – 201ATPSequence 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

  • ATPase activity Source: GO_Central
  • ATP binding Source: UniProtKB-KW

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-114608 Platelet degranulation

<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-4A
Alternative name(s):
Torsin family 4 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:TOR4A
Synonyms:C9orf167
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198113.2

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25981 TOR4A

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NXH8

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei122 – 138HelicalSequence analysisAdd BLAST17

Keywords - Cellular componenti

Membrane

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
54863

Open Targets

More...
OpenTargetsi
ENSG00000198113

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162380839

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NXH8 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TOR4A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
147638588

<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 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_00002874891 – 423Torsin-4AAdd BLAST423

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei63PhosphoserineCombined sources1
Modified residuei81PhosphoserineCombined sources1
Modified residuei89PhosphothreonineCombined sources1
Modified residuei106PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NXH8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NXH8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NXH8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NXH8

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

More...
PaxDbi
Q9NXH8

PeptideAtlas

More...
PeptideAtlasi
Q9NXH8

PRoteomics IDEntifications database

More...
PRIDEi
Q9NXH8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83099

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NXH8

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

More...
PhosphoSitePlusi
Q9NXH8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198113 Expressed in amniotic fluid and 140 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NXH8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000198113 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120213, 6 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NXH8, 15 interactors

Molecular INTeraction database

More...
MINTi
Q9NXH8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350102

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NXH8 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
Q9NXH8

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

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2170 Eukaryota
ENOG410XR06 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182888

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_053537_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NXH8

Identification of Orthologs from Complete Genome Data

More...
OMAi
PRAAQDC

Database of Orthologous Groups

More...
OrthoDBi
757464at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NXH8

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
IPR003593 AAA+_ATPase
IPR027417 P-loop_NTPase
IPR010448 Torsin
IPR030551 Torsin-4A

The PANTHER Classification System

More...
PANTHERi
PTHR10760 PTHR10760, 1 hit
PTHR10760:SF1 PTHR10760:SF1, 1 hit

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 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>Sequencei

<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.

Q9NXH8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDRGQPSLEP AAAAPRASGR CVIAPVRAVL RLRRRVCVLR KRRLLQPGGG
60 70 80 90 100
PDVGTGAPRP GCSPRAPRAD LDQPKFFTFD SPAELPSRTP RKKRRRSRLV
110 120 130 140 150
LYPETSRKYR PRVEHRSRAQ RCLLLLVAIV GFQVLNAIEN LDDNAQRYDL
160 170 180 190 200
DGLEKALQRA VFGQPAAVSR IVALMRDYLA THVHSRPLLL ALHGPSGVGK
210 220 230 240 250
SHVGRLLARH FRSVLEDSAL VLQYHARHHC PEARAAQDCR EELARRVADV
260 270 280 290 300
VARAEAEEKT PLLVLDDVEL MPRPLLDELH GFLQPQRSHH FHNAIYVLLS
310 320 330 340 350
GAGGAEVTRF VLQNASRALP LRPDGFRSAE AAAAQAEEDL RASLLAVLSR
360 370 380 390 400
EHPLWQAAAI VPFLLLDKRD VVSCFRDEMA GEGFFPDQAR AENLAAQLSF
410 420
YRVAGREFAV TGCKQVVATV NLL
Length:423
Mass (Da):46,914
Last modified:May 15, 2007 - v2
<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:i5CF52BC28A1AD7CC
GO

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 conflicti356Q → R in BAA91032 (PubMed:14702039).Curated1

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
AK000252 mRNA Translation: BAA91032.1
BX255925 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7041.1

NCBI Reference Sequences

More...
RefSeqi
NP_060193.2, NM_017723.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357503; ENSP00000350102; ENSG00000198113

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54863

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54863

UCSC genome browser

More...
UCSCi
uc004cmn.4 human

<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
AK000252 mRNA Translation: BAA91032.1
BX255925 Genomic DNA No translation available.
CCDSiCCDS7041.1
RefSeqiNP_060193.2, NM_017723.2

3D structure databases

SMRiQ9NXH8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120213, 6 interactors
IntActiQ9NXH8, 15 interactors
MINTiQ9NXH8
STRINGi9606.ENSP00000350102

PTM databases

iPTMnetiQ9NXH8
PhosphoSitePlusiQ9NXH8

Polymorphism and mutation databases

BioMutaiTOR4A
DMDMi147638588

Proteomic databases

EPDiQ9NXH8
jPOSTiQ9NXH8
MassIVEiQ9NXH8
MaxQBiQ9NXH8
PaxDbiQ9NXH8
PeptideAtlasiQ9NXH8
PRIDEiQ9NXH8
ProteomicsDBi83099

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
48995 20 antibodies

Genome annotation databases

EnsembliENST00000357503; ENSP00000350102; ENSG00000198113
GeneIDi54863
KEGGihsa:54863
UCSCiuc004cmn.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54863
DisGeNETi54863
EuPathDBiHostDB:ENSG00000198113.2

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TOR4A
HGNCiHGNC:25981 TOR4A
HPAiENSG00000198113 Low tissue specificity
neXtProtiNX_Q9NXH8
OpenTargetsiENSG00000198113
PharmGKBiPA162380839

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2170 Eukaryota
ENOG410XR06 LUCA
GeneTreeiENSGT00950000182888
HOGENOMiCLU_053537_1_0_1
InParanoidiQ9NXH8
OMAiPRAAQDC
OrthoDBi757464at2759
PhylomeDBiQ9NXH8
TreeFamiTF314941

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
54863 2 hits in 786 CRISPR screens

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

More...
GenomeRNAii
54863
PharosiQ9NXH8 Tdark

Protein Ontology

More...
PROi
PR:Q9NXH8
RNActiQ9NXH8 protein

Gene expression databases

BgeeiENSG00000198113 Expressed in amniotic fluid and 140 other tissues
GenevisibleiQ9NXH8 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR027417 P-loop_NTPase
IPR010448 Torsin
IPR030551 Torsin-4A
PANTHERiPTHR10760 PTHR10760, 1 hit
PTHR10760:SF1 PTHR10760:SF1, 1 hit
PfamiView protein in Pfam
PF06309 Torsin, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 nameiTOR4A_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: Q9NXH8
Secondary accession number(s): A2BFA4
<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: May 15, 2007
Last sequence update: May 15, 2007
Last modified: June 17, 2020
This is version 142 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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