Q8BH02

PR
Gene name
Tor4a
Protein name
Torsin-4A
Names
Torsin family 4 member A
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:227612
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

51-136 (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 Q8BH02

Entry ID Method Resolution Chain Position Source
AF-Q8BH02-F1 Predicted AlphaFoldDB

36 variants for Q8BH02

Variant ID(s) Position Change Description Diseaes Association Provenance
rs229594262 42 P>S No EVA
rs3411698940 44 T>I No EVA
rs3388527084 48 S>Y No EVA
rs3388535497 64 A>V No EVA
rs3388530132 78 T>I No EVA
rs3388532595 81 T>I No EVA
rs3388536308 104 C>S No EVA
rs3388535509 107 R>C No EVA
rs3388533026 116 R>C No EVA
rs28257729 120 L>F No EVA
rs3388531420 133 I>T No EVA
rs3388531838 134 E>K No EVA
rs3388527143 157 F>L No EVA
rs3388527086 174 L>M No EVA
rs3388531869 174 L>P No EVA
rs3388535550 179 H>Y No EVA
rs3388527116 196 S>C No EVA
rs240996919 208 A>S No EVA
rs3388529499 222 R>* No EVA
rs3388528128 228 P>T No EVA
rs242820611 230 P>L No EVA
rs3388534887 265 L>V No EVA
rs3388533979 285 H>D No EVA
rs3388531814 286 F>L No EVA
rs3388534308 292 V>E No EVA
rs3388531793 298 G>D No EVA
rs3388528215 302 I>V No EVA
rs3388532634 308 Q>H No EVA
rs3388531440 309 N>I No EVA
rs28257735 332 Q>E No EVA
rs3388532637 332 Q>H No EVA
rs3388533932 350 H>Q No EVA
rs3388531832 362 K>R No EVA
rs3388532989 376 E>K No EVA
rs3388531389 378 F>L No EVA
rs28257737 425 G>E No EVA

No associated diseases with Q8BH02

1 regional properties for Q8BH02

Type Name Position InterPro Accession
domain AAA+ ATPase domain 181 - 317 IPR003593

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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
Q9ER38 Tor3a Torsin-3A Mus musculus (Mouse) PR
10 20 30 40 50 60
MDRSHPSLEP QAKGPCVIAP VRAVLRLRRR VCVLRKRRLL QPGTEPDSGT GTLGPTGSLG
70 80 90 100 110 120
TLRADLDQPK FFTFDSLTEL TSRTPRKRRR RSRVVLYPET SRKCRPRTER QSRAQRCLLL
130 140 150 160 170 180
LVAIVGFQVL NAIENLDDNA QRYDLDGLEK ALQRSVFGQP AAVGRIMALL RDYLATHVHS
190 200 210 220 230 240
HPLLLALHGP SGVGKSHVGR LLARHFRAVL EDGALVLQYH ARYHCPEPRP VQDCRKELAQ
250 260 270 280 290 300
RVADVVAQAE AEEKTPLLVL DEAELLPPAL LDELHDLLQP QRSHHFHNAI YVLLSGAGGI
310 320 330 340 350 360
EITHFVLQNA SRMLPPLRHS AGSTQTEESP AQELLTSLRE LLAREHPLWH TAAIVPFLLL
370 380 390 400 410 420
DKPDVVNCFR EEMAGEGFFP EQALAEHLAE QLSYYHVAGH EFAITGCKQV VAKVNLLQHK
PAHAGH