Tor1a | ENSMUSG00000026849 | NCBI 30931

Details for: Tor1a

Gene ID: 30931

Symbol: Tor1a

Ensembl ID: ENSMUSG00000026849

Description: torsin family 1, member A (torsin A)

Associated with

Cargo recognition for clathrin-mediated endocytosis
(R-MMU-8856825)
Clathrin-mediated endocytosis
(R-MMU-8856828)
Membrane trafficking
(R-MMU-199991)
Vesicle-mediated transport
(R-MMU-5653656)
Atp-dependent protein folding chaperone
(GO:0140662)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Cell adhesion
(GO:0007155)
Cell projection
(GO:0042995)
Chaperone-mediated protein folding
(GO:0061077)
Chaperone cofactor-dependent protein refolding
(GO:0051085)
Cytoplasm
(GO:0005737)
Cytoplasmic vesicle
(GO:0031410)
Cytoskeletal protein binding
(GO:0008092)
Cytoskeleton
(GO:0005856)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum lumen
(GO:0005788)
Endoplasmic reticulum membrane
(GO:0005789)
Growth cone
(GO:0030426)
Hydrolase activity
(GO:0016787)
Identical protein binding
(GO:0042802)
Intermediate filament cytoskeleton organization
(GO:0045104)
Intracellular membrane-bounded organelle
(GO:0043231)
Kinesin binding
(GO:0019894)
Membrane
(GO:0016020)
Misfolded protein binding
(GO:0051787)
Neuron projection
(GO:0043005)
Neuron projection development
(GO:0031175)
Nuclear envelope
(GO:0005635)
Nuclear envelope organization
(GO:0006998)
Nuclear membrane
(GO:0031965)
Nuclear membrane organization
(GO:0071763)
Nucleotide binding
(GO:0000166)
Nucleus
(GO:0005634)
Organelle organization
(GO:0006996)
Positive regulation of synaptic vesicle endocytosis
(GO:1900244)
Protein binding
(GO:0005515)
Protein deneddylation
(GO:0000338)
Protein localization to nucleus
(GO:0034504)
Regulation of dopamine uptake involved in synaptic transmission
(GO:0051584)
Regulation of protein localization to cell surface
(GO:2000008)
Response to oxidative stress
(GO:0006979)
Secretory granule
(GO:0030141)
Synapse
(GO:0045202)
Synaptic vesicle
(GO:0008021)
Synaptic vesicle membrane organization
(GO:0048499)
Synaptic vesicle transport
(GO:0048489)
Wound healing, spreading of cells
(GO:0044319)

Other Information

Proteins

Torsin-1A

Genular Protein ID: 2258045625

Symbol: TOR1A_MOUSE

Name: Torsin-1A

UniProtKB Accession Codes:

Q9ER39

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16364897

Title: Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.

PubMed ID: 16364897

DOI: 10.1016/j.neuron.2005.11.010

PubMed ID: 17200151

Title: SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

PubMed ID: 17200151

DOI: 10.1093/hmg/ddl472

PubMed ID: 17428918

Title: Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.

PubMed ID: 17428918

DOI: 10.1073/pnas.0701185104

PubMed ID: 18827015

Title: TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

PubMed ID: 18827015

DOI: 10.1242/jcs.029454

PubMed ID: 19535332

Title: Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.

PubMed ID: 19535332

DOI: 10.1074/jbc.m109.004838

PubMed ID: 21183079

Title: A tissue-specific atlas of mouse protein phosphorylation and expression.

PubMed ID: 21183079

DOI: 10.1016/j.cell.2010.12.001

PubMed ID: 20015956

Title: Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA.

PubMed ID: 20015956

DOI: 10.1093/hmg/ddp557

PubMed ID: 20457914

Title: A molecular mechanism underlying the neural-specific defect in torsinA mutant mice.

PubMed ID: 20457914

DOI: 10.1073/pnas.0912877107

Sequence Information:

Length: 333
Mass: 37830
Checksum: CD2D7B97E3F03274
Sequence:

MKLGRAALAL LLLAPCVVRA VEPISLSLAL AGVLTTYISY PRLYCLFAEC CGQMRSLSRE 
ALQKDLDNKL FGQHLAKKVI LNAVSGFLSN PKPKKPLTLS LHGWTGTGKN FASKIIAENI 
YEGGLNSDYV HLFVATLHFP HASNITQYKD QLQMWIRGNV SACARSIFIF DEMDKMHAGL 
IDAIKPFLDY YDVVDEVSYQ KAIFIFLSNA GAERITDVAL DFWKSGKQRE EIKLRDMEPA 
LAVSVFNNKN SGFWHSSLID RNLIDYFVPF LPLEYKHLKM CIRVEMQSRG YEVDEDIISK 
VAEEMTFFPK EEKVFSDKGC KTVFTKLDYY LDD

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: Tor1a

Associated with

Other Information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. PubMed ID: 16364897

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. PubMed ID: 17200151

Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. PubMed ID: 17428918

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. PubMed ID: 18827015

Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. PubMed ID: 19535332

A tissue-specific atlas of mouse protein phosphorylation and expression. PubMed ID: 21183079

Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. PubMed ID: 20015956

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. PubMed ID: 20457914