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 Q61418

Entry ID Method Resolution Chain Position Source
AF-Q61418-F1 Predicted AlphaFoldDB

31 variants for Q61418

Variant ID(s) Position Change Description Diseaes Association Provenance
rs587373149 5 E>D No EVA
rs3388877203 40 S>R No EVA
rs3411437294 89 V>I No EVA
rs3388877187 154 A>P No EVA
rs3388862010 180 F>V No EVA
rs3388873081 195 T>I No EVA
rs3388873099 322 F>Y No EVA
rs3388869071 338 R>C No EVA
rs3388877189 342 A>T No EVA
rs216853138 354 R>K No EVA
rs3397450685 354 R>W No EVA
rs3397529933 355 Y>C No EVA
rs3397591976 361 I>M No EVA
rs247446023 362 A>V No EVA
rs227385389 366 V>I No EVA
rs3388878996 367 T>I No EVA
rs214511795 370 V>M No EVA
rs3388875614 388 L>V No EVA
rs3388875564 415 D>G No EVA
rs3388878985 443 T>S No EVA
rs3388871214 478 A>V No EVA
rs3388874367 502 L>I No EVA
rs3388851605 527 F>C No EVA
rs3397450813 530 T>P No EVA
rs3388878972 572 D>E No EVA
rs3397208756 590 R>L No EVA
rs256924830 624 L>V No EVA
rs3388838392 640 E>K No EVA
rs3388877252 676 H>D No EVA
rs3388875545 696 P>L No EVA
rs3388866224 726 K>E No EVA

No associated diseases with Q61418

2 regional properties for Q61418

Type Name Position InterPro Accession
domain CBS domain 585 - 653 IPR000644-1
domain CBS domain 684 - 742 IPR000644-2

Functions

Description
EC Number
Subcellular Localization
  • Early endosome membrane ; Multi-pass membrane protein
  • Late endosome membrane ; Multi-pass membrane protein
  • Endoplasmic reticulum membrane ; Multi-pass membrane protein
  • Lysosome membrane ; Multi-pass membrane protein
  • Recycling endosome membrane ; Multi-pass membrane protein
  • Localizes to late endosome membrane, lysosome membrane and recycling endosome membrane in the presence of CLCN3
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
ciliary base Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area.
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.
endosome membrane The lipid bilayer surrounding an endosome.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
late endosome membrane The lipid bilayer surrounding a late endosome.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
recycling endosome An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
recycling endosome membrane The lipid bilayer surrounding a recycling endosome.
synaptic vesicle A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.

4 GO annotations of molecular function

Name Definition
antiporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out).
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
solute:proton antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: solute(out) + H+(in) = solute(in) + H+(out).
voltage-gated chloride channel activity Enables the transmembrane transfer of a chloride ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

2 GO annotations of biological process

Name Definition
chloride transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
non-motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P37020 GEF1 Anion/proton exchange transporter GEF1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P51790 CLCN3 H(+)/Cl(-) exchange transporter 3 Homo sapiens (Human) PR
P51797 CLCN6 H(+)/Cl(-) exchange transporter 6 Homo sapiens (Human) PR
P51798 CLCN7 H(+)/Cl(-) exchange transporter 7 Homo sapiens (Human) PR
O70496 Clcn7 H(+)/Cl(-) exchange transporter 7 Mus musculus (Mouse) PR
P51791 Clcn3 H(+)/Cl(-) exchange transporter 3 Mus musculus (Mouse) PR
P51792 Clcn3 H(+)/Cl(-) exchange transporter 3 Rattus norvegicus (Rat) PR
P51799 Clcn7 H(+)/Cl(-) exchange transporter 7 Rattus norvegicus (Rat) PR
P60300 CLC-G Putative chloride channel-like protein CLC-g Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDFLEEPFPD VGTYEDFHTI DWLREKSRDT DRHRKITSKS KESIWEFIKS LLDAWSGWVV
70 80 90 100 110 120
MLLIGLLAGT LAGVIDLAVD WMTDLKEGVC LSAFWYSHEQ CCWTSNETTF EDRDKCPLWQ
130 140 150 160 170 180
KWSELLLSQS EGASAYILNY LMYILWALLF AFLAVSLVRV FAPYACGSGI PEIKTILSGF
190 200 210 220 230 240
IIRGYLGKWT LLIKTVTLVL VVSSGLSLGK EGPLVHVACC CGNFFSSLFS KYSKNEGKRR
250 260 270 280 290 300
EVLSAAAAAG VSVAFGAPIG GVLFSLEEVS YYFPLKTLWR SFFAALVAAF TLRSINPFGN
310 320 330 340 350 360
SRLVLFYVEY HTPWYMAELF PFILLGVFGG LWGTLFTRCN IAWCRRRKTT RLGRYPVLEV
370 380 390 400 410 420
IAVTAVTAIV AYPNPYTRQS TSELISELFN DCGALESSQL CDYINDPNMT RPVDDIPDRP
430 440 450 460 470 480
AGVGVYTAMW QLALALIFKI VITIFTFGMK IPSGLFIPSM AVGAMAGRMV GIGVEQLAYH
490 500 510 520 530 540
HHDWIIFRNW CRPGADCVTP GLYAMVGAAA CLGGVTRMTV SLVVIMFELT GGLEYIVPLM
550 560 570 580 590 600
AAAVTSKWVA DAFGKEGIYE AHIHLNGYPF LDVKDEFTHR TLATDVMRPR RGEPPLSVLT
610 620 630 640 650 660
QDSMTVEDVE TLIKETDYNG FPVLVSRDSE RLIGFAQRRE LILAIKNARQ RQEGIVSNSI
670 680 690 700 710 720
MYFTEEPPEL PANSPHPLKL RRILNLSPFT VTDHTPMETV VDIFRKLGLR QCLVTRSGRL
730 740
LGIITKKDVL RHMAQMANQD PESIMFN