Q2QLA3

PR
Gene name
CFTR (ABCC7)
Protein name
Cystic fibrosis transmembrane conductance regulator
Names
CFTR, ATP-binding cassette sub-family C member 7, Channel conductance-controlling ATPase, cAMP-dependent chloride channel
Species
Equus caballus (Horse)
KEGG Pathway
ecb:100071259
EC number
5.6.1.6: Enzymes altering polypeptide conformation or assembly
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

623-714 (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 Q2QLA3

Entry ID Method Resolution Chain Position Source
AF-Q2QLA3-F1 Predicted AlphaFoldDB

6 variants for Q2QLA3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3105069867 126 G>S No EVA
rs3440954209 390 T>I No EVA
rs1139878543 393 V>E No EVA
rs3440318206 792 R>* No EVA
rs3091792718 1207 S>P No EVA
rs3091792735 1208 G>E No EVA

No associated diseases with Q2QLA3

9 regional properties for Q2QLA3

Type Name Position InterPro Accession
domain ABC transporter-like, ATP-binding domain 422 - 645 IPR003439-1
domain ABC transporter-like, ATP-binding domain 1211 - 1444 IPR003439-2
domain AAA+ ATPase domain 449 - 638 IPR003593-1
domain AAA+ ATPase domain 1237 - 1419 IPR003593-2
domain ABC transporter type 1, transmembrane domain 82 - 350 IPR011527-1
domain ABC transporter type 1, transmembrane domain 860 - 1158 IPR011527-2
conserved_site ABC transporter-like, conserved site 547 - 561 IPR017871
domain CFTR regulator domain 638 - 849 IPR025837
domain Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette domain 1 389 - 669 IPR047082

Functions

Description
EC Number 5.6.1.6 Enzymes altering polypeptide conformation or assembly
Subcellular Localization
  • Apical cell membrane ; Multi-pass membrane protein
  • Early endosome membrane ; Multi-pass membrane protein
  • Cell membrane ; Multi-pass membrane protein
  • Recycling endosome membrane ; Multi-pass membrane protein
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Nucleus
  • The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane
  • In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia
  • In Sertoli cells, a processed product is detected in the nucleus
  • ER stress induces GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
chloride channel complex An ion channel complex through which chloride ions pass.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane The lipid bilayer surrounding an early endosome.
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.
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.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome membrane The lipid bilayer surrounding a recycling endosome.

10 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.
bicarbonate transmembrane transporter activity Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-.
chloride channel activity Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
chloride channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a chloride channel.
chloride transmembrane transporter activity Enables the transfer of chloride ions from one side of a membrane to the other.
intracellularly ATP-gated chloride channel activity Enables passage of a chloride ion through a transmembrane channel that opens when ATP is bound by the channel complex or one of its constituent parts on the intracellular side of the plasma membrane.
isomerase activity Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.

11 GO annotations of biological process

Name Definition
bicarbonate transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cellular response to cAMP Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
cellular response to forskolin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a forskolin stimulus.
chloride transmembrane transport The process in which chloride is transported across a membrane.
intracellular pH elevation Any process that increases the internal pH of a cell, measured by the concentration of the hydrogen ion.
membrane hyperpolarization The process in which membrane potential increases with respect to its steady-state potential, usually from negative potential to a more negative potential. For example, during the repolarization phase of an action potential the membrane potential often becomes more negative or hyperpolarized before returning to the steady-state resting potential.
multicellular organismal water homeostasis Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism.
response to endoplasmic reticulum stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
sperm capacitation A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium.
transepithelial water transport The directed movement of water (H2O) from one side of an epithelium to the other.
transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2QLE5 CFTR Cystic fibrosis transmembrane conductance regulator Pan troglodytes (Chimpanzee) PR
Q5U820 CFTR Cystic fibrosis transmembrane conductance regulator Canis lupus familiaris (Dog) (Canis familiaris) PR
P91660 Rh5 Probable multidrug resistance-associated protein lethal(2)03659 Drosophila melanogaster (Fruit fly) PR
P13569 CFTR Cystic fibrosis transmembrane conductance regulator Homo sapiens (Human) PR
P26361 Cftr Cystic fibrosis transmembrane conductance regulator Mus musculus (Mouse) PR
Q6PQZ2 CFTR Cystic fibrosis transmembrane conductance regulator Sus scrofa (Pig) PR
Q00553 CFTR Cystic fibrosis transmembrane conductance regulator Macaca mulatta (Rhesus macaque) PR
10 20 30 40 50 60
MQRSPLEKAS VISKLFFSWT RPILRKGYRQ RLELSDIYQI PSADSADNLS EKLEREWDRE
70 80 90 100 110 120
LVSKKNPKLI NALRRCFFWR FMFYGIILYL GEVTKAVQPL LLGRIIASYD PDNEAERSIA
130 140 150 160 170 180
IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL
190 200 210 220 230 240
VSLLSNNLNK FDEGLALAHF VWIAPLQVTL LMGLLWDLLQ ASAFCGLAFL IVLALFQAGL
250 260 270 280 290 300
GRMMMKYRDQ RAGKINERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA
310 320 330 340 350 360
YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IVLRRIFTTI SFCIVLRMAV TRQFPWAVQT
370 380 390 400 410 420
WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNDRKI
430 440 450 460 470 480
SNGDNSLFFS NFSLLGTPVL KDISFKIERG QLLAVAGSTG AGKTSLLMMI MGELEPSEGK
490 500 510 520 530 540
IKHSGRISFC SQFSWIMPGT IKENIIFGVS YDEYRYRSVI KACQLEEDIS KFAEKDNIVL
550 560 570 580 590 600
GEGGIQLSGG QRARISLARA VYKDADLYLL DSPFGYLDVL TEKEIFESCV CKLMANKTRI
610 620 630 640 650 660
LVTSKMEHLK KADKILILHE GSSYFYGTFS ELQNLRPDFS SKLMGYDSFD QFSAERRNSI
670 680 690 700 710 720
LTETLRRFSL EGDATVSWNE TKKQSFKQTG EFGDKRKNSI LNPINSIRKF SIVQKTPLQM
730 740 750 760 770 780
NGIEEDSDEP LERRLSLVPD SEQGEAILPR SNVINTGPTF QRRRRQSVLN LMTRSSVNQG
790 800 810 820 830 840
QSIHRKTATS TRKMSLAPQA NLTEMDIYSR RLSQDSGLEI SEEINEDDLK ECFFDDVESI
850 860 870 880 890 900
PTVTTWNTYL RYITIHKSLI FVLIWCLVIF LAEVAASLVV LWLLKETPPQ DSGNSTKGAN
910 920 930 940 950 960
NSYAVIITST SSYYVFYIYV GVADTLLALG LFRGLPLVHT LITVSKILHH KMLHSVLQAP
970 980 990 1000 1010 1020
MSTLNTLKAG GILNRFSKDM AILDDLLPLT IFDFIQLLLI VIGAVAVVSV LQPYIFLATV
1030 1040 1050 1060 1070 1080
PVIAAFIILR AYFLHTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK
1090 1100 1110 1120 1130 1140
ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGTVG IILTLAMNIM
1150 1160 1170 1180 1190 1200
STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEDSKPTKSV KPSKDGQLSK VMIIENQYVK
1210 1220 1230 1240 1250 1260
KDDIWPSGGQ MTVKDLTAKY TDGGNAILEN ISFSISPGQR VGLLGRTGSG KSTLLSAFLR
1270 1280 1290 1300 1310 1320
LLNTEGEIQI DGVSWDSITL QQWRKAFGVI PQKVFIFSGT FRKNLDPYGQ WNDQEIWKVA
1330 1340 1350 1360 1370 1380
DEVGLRSVIE QFPGKLDFVL VDGGNVLSHG HKQLICLARS VLSKAKILLL DEPSAHLDPI
1390 1400 1410 1420 1430 1440
TYQIIRRTLK QAFADCTVIL SEHRIEAMLE CQRFLVIEEN KVRQYDSIQK LLSEKSLFQQ
1450 1460 1470 1480
AISSSDPLKL FPHRNSSKHK SRSKIAALQE ETEEEVQETR L