Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8BYU6

Entry ID Method Resolution Chain Position Source
AF-Q8BYU6-F1 Predicted AlphaFoldDB

32 variants for Q8BYU6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388505475 17 C>Y No EVA
rs236852895 46 N>D No EVA
rs50888590 46 N>S No EVA
rs1133878116 48 T>P No EVA
rs265054605 53 P>S No EVA
rs3388509600 55 Q>K No EVA
rs49240126 56 P>S No EVA
rs47121208 82 E>G No EVA
rs47121208 82 E>V No EVA
rs3388506405 85 E>* No EVA
rs3390828981 102 S>C No EVA
rs3388509694 104 S>N No EVA
rs3390824119 112 H>L No EVA
rs51531165 119 G>A No EVA
rs258127775 121 G>R No EVA
rs51053223 130 C>F No EVA
rs47360418 134 D>N No EVA
rs3388510554 146 S>N No EVA
rs47321039 148 V>A No EVA
rs240610689 155 G>C No EVA
rs3410966546 160 A>D No EVA
rs51225423 161 D>E No EVA
rs3388504882 169 A>P No EVA
rs3388504894 190 S>F No EVA
rs3388508327 193 G>S No EVA
rs224925370 195 S>N No EVA
rs48369291 201 T>A No EVA
rs50171439 205 N>S No EVA
rs3388510547 323 S>R No EVA
rs31954062 366 E>K No EVA
rs3388507308 400 E>G No EVA
rs3390824088 449 K>R No EVA

No associated diseases with Q8BYU6

3 regional properties for Q8BYU6

Type Name Position InterPro Accession
domain Torsin-1A-interacting protein 1/2, AAA+ activator domain 269 - 501 IPR046753
domain Torsin-1A-interacting protein 1/2, N-terminal 12 - 162 IPR046754-1
domain Torsin-1A-interacting protein 1/2, N-terminal 158 - 265 IPR046754-2

Functions

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

5 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 membrane The lipid bilayer surrounding 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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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
ATPase activator activity Binds to and increases the activity of an ATP hydrolysis activity.
ATPase binding Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.

4 GO annotations of biological process

Name Definition
endoplasmic reticulum organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
membrane organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
positive regulation of ATP-dependent activity Any process that activates or increases the rate of an ATP-dependent activity.
protein localization to nuclear envelope A process in which a protein is transported to, or maintained at, a location within a nuclear envelope.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5JTV8 TOR1AIP1 Torsin-1A-interacting protein 1 Homo sapiens (Human) PR
Q8NFQ8 TOR1AIP2 Torsin-1A-interacting protein 2 Homo sapiens (Human) PR
Q921T2 Tor1aip1 Torsin-1A-interacting protein 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSQSLKSQNT NMSDSGCRDP VGDSQNVLEN DPSINSQTQD TRVTPNNTAE AQPLQPTSDL
70 80 90 100 110 120
KEDHHEIGAR AQEHTDTGDR SESPEEPALE KPPLDKAELE SSPSSQDTEL GHHPHSEHGG
130 140 150 160 170 180
GDALDLDPNC SQSDLGGRAD AHLESSSVAS PEGAGDRGEA DEHLESSSAA PTEGAGDRGE
190 200 210 220 230 240
AGQELLAEDS TDGQSLGHSN TGPGNQDSLR RRLPVPEAGS HEEETELVKE KQEVAQDTLR
250 260 270 280 290 300
KTDKKSLWTY GSVFLGCLIV AVVLSSVNSY YSSPAQQVPQ NPALEAFLAQ FGQLKEKFPG
310 320 330 340 350 360
QSSFLWQRGR KFLQKHLNAS NPSEPATIIF TAAREGKETL KCLSYHVANA YTSSQKVTAV
370 380 390 400 410 420
SIDGAERALQ DSDTVKLLVD LELSDGFENG HKAAVVHHFE SLPAGSTLIF YKYCDHENAA
430 440 450 460 470 480
FKDVALVLTV LLEEETLEAS VSPREIEEKV RDLLWAKFTN SESPTSYSHM DSDKLSGLWS
490 500
RISHLVLPVQ PVRNIEERGC LL