Q9ER38

PR
Gene name
Tor3a (Adir)
Protein name
Torsin-3A
Names
ATP-dependent interferon-responsive protein, Torsin family 3 member A
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:30935
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-60 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9ER38

Entry ID Method Resolution Chain Position Source
AF-Q9ER38-F1 Predicted AlphaFoldDB

24 variants for Q9ER38

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3390847442 13 P>A No EVA
rs13461644 42 K>T No EVA
rs249084461 94 R>C No EVA
rs3713711 94 R>H No EVA
rs254163032 100 S>R No EVA
rs3390836909 112 T>S No EVA
rs3390851740 113 G>S No EVA
rs31274029 119 R>C No EVA
rs13461646 164 L>V No EVA
rs3388509775 172 L>M No EVA
rs3388511718 204 L>S No EVA
rs3388504902 208 M>I No EVA
rs3388509761 239 Y>N No EVA
rs264692464 248 R>H No EVA
rs242418609 250 V>A No EVA
rs3388509587 277 K>M No EVA
rs3388509098 279 G>R No EVA
rs3388511634 286 T>M No EVA
rs31267896 287 T>A No EVA
rs3388509611 309 S>N No EVA
rs3388511695 314 K>N No EVA
rs236203689 315 H>N No EVA
rs13461645 329 C>R No EVA
rs3388510259 345 P>L No EVA

No associated diseases with Q9ER38

No regional properties for Q9ER38

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9ER38

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Endoplasmic reticulum lumen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.
nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).

2 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NXH8 TOR4A Torsin-4A Homo sapiens (Human) PR
Q8BH02 Tor4a Torsin-4A Mus musculus (Mouse) PR
10 20 30 40 50 60
MFLGALWLLL LLPLRPPGAQ GQEADEPTPW PSVKGLKEQL RKAGALSKRY WELFSCTLWP
70 80 90 100 110 120
DHCEDQETPV PPLGWSLPLW GRRSLDVLTA WLCRFQDCCS GGGDCRISNN LTGLESDLRV
130 140 150 160 170 180
RLHGQHLASK LVLRAVKGYL EMPQVGKALA LSFHGWSGTG KNFLARILMD NLYRDGMRSD
190 200 210 220 230 240
CVKMFISTFH FPHPKYVDTY KEELQRQMQE TQWRCHQSTF VFDEAEKLHP GLLELLEPYL
250 260 270 280 290 300
EPRSPEARGV EAPRAIFLFL SNLGGSVINE VVLSLLKAGW SREEITTQHL EVPLQAEIME
310 320 330 340 350 360
AADSSFGSSG LLKKHLIDHF IPFLPLEYCH VRLCVRDAFL GQDLPYTEET LDEIAKMMTY
370 380
VPEEERLFSS QGCKSISQRI NLFLP