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 Q99PE8

Entry ID Method Resolution Chain Position Source
AF-Q99PE8-F1 Predicted AlphaFoldDB

46 variants for Q99PE8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389495069 18 N>S No EVA
rs108761236 31 T>M No EVA
rs3389451210 33 T>I No EVA
rs3389451210 33 T>R No EVA
rs3389393993 42 L>M No EVA
rs3389482151 95 T>A No EVA
rs220926367 106 R>C No EVA
rs3389483127 108 G>W No EVA
rs252075214 113 E>D No EVA
rs3389393973 176 L>Q No EVA
rs3389474882 180 H>Y No EVA
rs49981963 185 M>V No EVA
rs3389498903 219 E>V No EVA
rs3408166134 254 R>C No EVA
rs3389495074 262 D>E No EVA
rs3389476103 266 I>N No EVA
rs3389393974 284 F>V No EVA
rs48861462 328 C>S No EVA
rs3389462146 331 K>E No EVA
rs3389484434 332 E>* No EVA
rs3389486781 336 Y>C No EVA
rs3389451187 348 Y>D No EVA
rs49200427 354 T>M No EVA
rs3389478688 385 Q>* No EVA
rs3389441937 389 M>V No EVA
rs48735971 427 L>F No EVA
462 W>del trac; strongly increased levels of sitosterol, brassicasterol and campesterol in blood plasma [UniProt] No
rs3389482078 470 L>I No EVA
rs49134167 472 V>A No EVA
rs46754296 477 V>I No EVA
rs3389476128 483 F>C No EVA
rs3389476160 488 Y>* No EVA
rs3407451583 488 Y>* No EVA
rs3389451231 527 N>T No EVA
rs3389393997 537 L>Q No EVA
rs3389486800 554 Q>E No EVA
rs3389491843 554 Q>H No EVA
rs3389474918 572 C>S No EVA
rs4231712 590 G>E No EVA
rs4231713 591 S>P No EVA
rs4231714 594 S>T No EVA
rs4231716 608 Q>E No EVA
rs3389484412 608 Q>H No EVA
rs256876638 612 K>E No EVA
rs3389474878 628 L>S No EVA
rs3389482079 640 I>L No EVA

1 associated diseases with Q99PE8

Without disease ID

5 regional properties for Q99PE8

Type Name Position InterPro Accession
domain ABC transporter-like, ATP-binding domain 39 - 294 IPR003439
domain AAA+ ATPase domain 79 - 271 IPR003593
domain ABC-2 type transporter, transmembrane domain 369 - 581 IPR013525
conserved_site ABC transporter-like, conserved site 194 - 208 IPR017871
domain ABC transporter family G domain 251 - 326 IPR043926

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Apical cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
apical part of cell The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue.
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
ATP-binding cassette (ABC) transporter complex A complex for the transport of metabolites into and out of the cell, typically comprised of four domains; two membrane-associated domains and two ATP-binding domains at the intracellular face of the membrane, that form a central pore through the plasma membrane. Each of the four core domains may be encoded as a separate polypeptide or the domains can be fused in any one of a number of ways into multidomain polypeptides. In Bacteria and Archaebacteria, ABC transporters also include substrate binding proteins to bind substrate external to the cytoplasm and deliver it to the transporter.
integral component of plasma membrane The component of the plasma 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.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

7 GO annotations of molecular function

Name Definition
ABC-type transporter activity Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
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.
ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
cholesterol transfer activity Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.
metal ion binding Binding to a metal ion.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.

13 GO annotations of biological process

Name Definition
bile acid signaling pathway The series of molecular signals initiated by bile acid binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
cholesterol efflux The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
cholesterol homeostasis Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
intestinal cholesterol absorption Uptake of cholesterol into the blood by absorption from the small intestine.
negative regulation of intestinal cholesterol absorption Any process that stops, prevents, or reduces the frequency, rate or extent of uptake of cholesterol into the blood by absorption from the intestine.
negative regulation of intestinal phytosterol absorption Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of phytosterols into the blood by absorption from the small intestine.
response to ionizing radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays.
response to muscle activity Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle activity stimulus.
response to nutrient Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
sterol transport The directed movement of sterols into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Sterols are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.
transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
triglyceride homeostasis Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P45844 ABCG1 ATP-binding cassette sub-family G member 1 Homo sapiens (Human) PR
Q9H172 ABCG4 ATP-binding cassette sub-family G member 4 Homo sapiens (Human) PR
Q64343 Abcg1 ATP-binding cassette sub-family G member 1 Mus musculus (Mouse) PR
Q99PE7 Abcg5 ATP-binding cassette sub-family G member 5 Rattus norvegicus (Rat) PR
Q11180 wht-1 ABC transporter ATP-binding protein/permease wht-1 Caenorhabditis elegans PR
Q09466 wht-3 ABC transporter ATP-binding protein/permease wht-3 Caenorhabditis elegans PR
Q9MAG3 ABCG24 ABC transporter G family member 24 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M2V6 ABCG17 ABC transporter G family member 17 Arabidopsis thaliana (Mouse-ear cress) PR
Q9MAH4 ABCG10 ABC transporter G family member 10 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SZR9 ABCG9 ABC transporter G family member 9 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MGELPFLSPE GARGPHINRG SLSSLEQGSV TGTEARHSLG VLHVSYSVSN RVGPWWNIKS
70 80 90 100 110 120
CQQKWDRQIL KDVSLYIESG QIMCILGSSG SGKTTLLDAI SGRLRRTGTL EGEVFVNGCE
130 140 150 160 170 180
LRRDQFQDCF SYVLQSDVFL SSLTVRETLR YTAMLALCRS SADFYNKKVE AVMTELSLSH
190 200 210 220 230 240
VADQMIGSYN FGGISSGERR RVSIAAQLLQ DPKVMMLDEP TTGLDCMTAN QIVLLLAELA
250 260 270 280 290 300
RRDRIVIVTI HQPRSELFQH FDKIAILTYG ELVFCGTPEE MLGFFNNCGY PCPEHSNPFD
310 320 330 340 350 360
FYMDLTSVDT QSREREIETY KRVQMLECAF KESDIYHKIL ENIERARYLK TLPTVPFKTK
370 380 390 400 410 420
DPPGMFGKLG VLLRRVTRNL MRNKQAVIMR LVQNLIMGLF LIFYLLRVQN NTLKGAVQDR
430 440 450 460 470 480
VGLLYQLVGA TPYTGMLNAV NLFPMLRAVS DQESQDGLYH KWQMLLAYVL HVLPFSVIAT
490 500 510 520 530 540
VIFSSVCYWT LGLYPEVARF GYFSAALLAP HLIGEFLTLV LLGIVQNPNI VNSIVALLSI
550 560 570 580 590 600
SGLLIGSGFI RNIQEMPIPL KILGYFTFQK YCCEILVVNE FYGLNFTCGG SNTSMLNHPM
610 620 630 640 650
CAITQGVQFI EKTCPGATSR FTANFLILYG FIPALVILGI VIFKVRDYLI SR