SitesBLAST
Comparing PfGW456L13_2351 FitnessBrowser__pseudo13_GW456_L13:PfGW456L13_2351 to proteins with known functional sites using BLASTp with E ≤ 0.001.
Or try Sites on a Tree, PaperBLAST, Conserved Domains, or compare to all protein structures
Found 18 hits to proteins with known functional sites (download)
Q8NLB7 Gentisate transporter from Corynebacterium glutamicum (strain ATCC 13032 / DSM 20300 / BCRC 11384 / JCM 1318 / LMG 3730 / NCIMB 10025) (see paper)
26% identity, 53% coverage: 11:240/436 of query aligns to 39:251/444 of Q8NLB7
- D54 (≠ E23) mutation to A: Loss of transport activity.; mutation to E: Retains 50% of its transport activity.
- D57 (= D26) mutation to A: Loss of transport activity.; mutation to E: Retains 50% of its transport activity.
- R103 (= R79) mutation to A: Loss of transport activity.
Sites not aligning to the query:
- 309 W→V: Loss of transport activity.
- 312 D→A: Loss of transport activity.
- 313 R→A: Loss of transport activity.
- 317 mutation I->H,Y: Loss of transport activity.
- 386 R→A: Loss of transport activity.
Q63089 Solute carrier family 22 member 1; Organic cation transporter 1; rOCT1 from Rattus norvegicus (Rat) (see 4 papers)
30% identity, 38% coverage: 61:225/436 of query aligns to 158:301/556 of Q63089
- C179 (≠ S85) mutation to A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; S-322; A-358; A-418; S-437; A-470 and A-474.
- M212 (≠ I126) mutation to L: No change in TEA and MPP(+) uptake.
- V213 (≠ A127) mutation to G: Decreased TEA uptake. No change in MPP(+) uptake.
- S214 (≠ V128) mutation to G: Decreased TEA and MPP(+) uptake.
- K215 (≠ G129) mutation to Q: Loss of TEA and MPP(+) uptake activity.; mutation to R: Loss of TEA and MPP(+) uptake activity.
- G216 (= G130) mutation to A: Decreased TEA and MPP(+) uptake.
- S217 (≠ E131) mutation to G: No change in TEA and MPP(+) uptake.
- W218 (= W132) mutation to F: Decreased guanidine, histamine, serotonin and TEA uptake. No change in MPP(+) uptake. No change in TEA and MPP(+) affinity. Decreased TEA Vmax. No change in MPP(+) Vmax.; mutation to L: Decreased guanidine, histamine, serotonin, TEA and MPP(+) uptake. Decreased TEA affinity. No change in MPP(+) affinity. Decreased TEA and MPP(+) Vmax.; mutation to Y: Decreased guanidine, histamine, serotonin and TEA uptake. No change in MPP(+) uptake. Increased TEA and MPP(+) affinity. Decreased TEA and MPP(+) Vmax.
- V219 (≠ G133) mutation to L: No change in TEA and MPP(+) uptake.
- S220 (≠ G134) mutation to I: Decreased TEA and MPP(+) uptake.
- G221 (≠ A135) mutation to A: Decreased TEA and MPP(+) uptake.
- Y222 (≠ V136) mutation to F: No change in guanidine, histamine, serotonin, TEA and MPP(+) uptake. Increased TEA affinity. No change in MPP(+) affinity. Decreased TEA Vmax. No change in MPP(+) Vmax.; mutation to L: Decreased guanidine, serotonin, TEA and MPP(+) uptake. No change in histamine uptake. Increased TEA and MPP(+) affinity. Decreased TEA and MPP(+) Vmax.
- T223 (≠ L137) mutation to I: Decreased TEA uptake. No change in MPP(+) uptake.
- L224 (≠ M138) mutation to V: Decreased TEA and MPP(+) uptake.
- I225 (≠ A139) mutation to G: No change in TEA and MPP(+) uptake.
- T226 (≠ G140) mutation to A: Decreased TEA uptake. No change in MPP(+) uptake.
- E227 (= E141) mutation to D: Loss of TEA and MPP(+) uptake activity.; mutation to Q: Loss of TEA and MPP(+) uptake activity.
- F228 (≠ H142) mutation to I: No change in TEA and MPP(+) uptake.
- V229 (≠ A143) mutation to A: Decreased TEA and MPP(+) uptake.; mutation to L: Loss of TEA and MPP(+) uptake activity.
- S286 (= S210) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-292; A-296; A-328 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-292; A-296; A-328 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-292; A-296; A-328 and A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-292; A-296; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-292; A-296; A-328 and A-550.
- S292 (= S216) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-296; A-328 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-286; A-296; A-328 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-296; A-328 and A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-296; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-296; A-328 and A-550.
- T296 (≠ A220) mutation to A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-328; A-550. Significant increase of the ASP uptake by PKA activation. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-328; A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-328; A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-328 and A-550.
Sites not aligning to the query:
- 26 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-155; A-179; S-322; A-358; A-418; S-437; A-470 and A-474.
- 155 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-179; S-322; A-358; A-418; S-437; A-470 and A-474.
- 322 C→S: Reduces the activation by MMTS. Abolishes the activation by MMTs; when associated with M-451. Choline affinity is increased fivefold by MMTS. Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; A-358; A-418; S-437; A-470 and A-474. Choline affinity is increased four- to fivefold; when associated with M-451.
- 328 S→A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-296 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-296 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-296; A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-296 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-296 and A-550.
- 358 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-418; S-437; A-470 and A-474.
- 418 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; S-437; A-470 and A-474.
- 437 C→S: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-470 and A-474.
- 451 C→M: Reduces the activation by MMTS. Abolishes the activation by MMTs; when associated with S-322. Abolishes the effect of MMTs on choline-induced currents. Choline affinity is not influenced by MMTS. Choline affinity is increased four- to fivefold; when associated with S-322.
- 470 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-437 and A-474.
- 474 C→A: Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-437 and A-470.
- 475 D→E: Decreased MPP(+) uptake, no change in MPP(+) affinity. Decreased NMN uptake, increased NMN affinity. Decreased choline uptake, increased choline affinity.; D→N: Decreased MPP(+) uptake.; D→R: Decreased MPP(+) uptake.
- 550 T→A: No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-296; A-328. Significant increase of the ASP uptake by PKA activation. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-296 and A-328. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-296; A-328. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-296 and A-328. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-296 and A-328.
8et8A Cryo-em structure of the organic cation transporter 1 in complex with verapamil (see paper)
32% identity, 39% coverage: 61:229/436 of query aligns to 156:297/532 of 8et8A
Sites not aligning to the query:
- binding (2S)-2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile: 31, 35, 353, 360, 378, 381, 385, 449, 469
8et7A Cryo-em structure of the organic cation transporter 1 in complex with diphenhydramine (see paper)
32% identity, 39% coverage: 61:229/436 of query aligns to 156:297/532 of 8et7A
Sites not aligning to the query:
O08966 Solute carrier family 22 member 1; Organic cation transporter 1; mOCT1 from Mus musculus (Mouse) (see paper)
30% identity, 38% coverage: 61:225/436 of query aligns to 158:301/556 of O08966
Sites not aligning to the query:
- 32 L→F: Increased trospium uptake. Increased trospium affinity. No change in fenoterol uptake.
- 36 Y→C: Decreased fenoterol uptake. Decreased fenoterol affinity. No change in trospium uptake. No change in terbutaline affinity.
O15245 Solute carrier family 22 member 1; Organic cation transporter 1; hOCT1 from Homo sapiens (Human) (see 10 papers)
29% identity, 41% coverage: 56:233/436 of query aligns to 161:303/554 of O15245
- S189 (≠ V96) to L: no changes in MPP(+) uptake; dbSNP:rs34104736
- G220 (≠ A135) to V: affects transporter activity; reduction of MPP(+) uptake when associated with V-408; dbSNP:rs36103319
- Y240 (≠ A155) mutation to F: Decreased TEA uptake.
- P283 (≠ N208) to L: in dbSNP:rs4646277; mutation to A: Decreased TEA uptake.
- R287 (= R217) to G: in dbSNP:rs4646278
Sites not aligning to the query:
- 14 S → F: exclusively found in the African American population; increased MPP(+) uptake when associated with V-408; dbSNP:rs34447885
- 24 I→L: No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake.
- 28 L→I: No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake.
- 31 A→S: No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake.
- 32 F→L: No change in fenoterol uptake. Decreased trospium uptake. Decreased trospium affinity.
- 36 C→Y: Increased fenoterol uptake. Increased fenoterol affinity. No change in trospium uptake. No change in terbutaline uptake. No change in terbutaline affinity.
- 41 F → L: in dbSNP:rs2297373
- 61 R → C: affects transporter activity; reduction of MPP(+) uptake; reduction of serum O-isobutanoyl-(R)-carnitine levels; reduction of MPP(+) uptake when associated with V-408; dbSNP:rs12208357
- 85 L → F: no changes in MPP(+) uptake; when associated with V-408; dbSNP:rs35546288
- 88 C → R: affects transporter activity; reduction of MPP(+), serotonin and TEA uptake; dbSNP:rs55918055
- 160 L → F: no changes in both MPP(+) and TEA uptake; abolishes MPP(+) uptake when associated with S-401; largely localized to the plasma membrane; dbSNP:rs683369
- 341 P → L: affects transporter activity; reduction of TEA uptake; reduction o MPP(+) uptake when associated with V-408; largely localized to the plasma membrane; dbSNP:rs2282143
- 342 R → H: no changes in MPP(+) uptake when associated with V-408; dbSNP:rs34205214
- 361 Y→F: Decreased TEA uptake.
- 376 Y→F: Decreased TEA uptake.
- 401 G → S: affects transporter activity; reduction of MPP(+), serotonin and TEA uptake; no MPP(+) uptake when associated with L-160; dbSNP:rs34130495
- 408 M → V: does not affect transporter activity; no changes in MPP(+) uptake when associated with F-14; no changes in MPP(+) uptake when associated with F-85; no changes in MPP(+) uptake when associated with L-189; no changes in MPP(+) uptake when associated with H-342; no changes in MPP(+) uptake when associated with M-420 del; no changes in MPP(+) uptake when associated with I-440; no changes in MPP(+) uptake when associated with I-461; no changes in MPP(+) uptake when associated with M-488; reduction of MPP uptake when associated with C-61; no MPP(+) uptake when associated with V-220; reduction of MPP(+) uptake when associated with L-341; no MPP(+) uptake when associated with S-401; no MPP(+) uptake when associated with R-465; dbSNP:rs628031
- 420 natural variant: Missing (reduction of serum O-isobutanoyl-(R)-carnitine levels; no change in MPP(+) uptake; no changes in MPP(+) uptake when associated with V-408; dbSNP:rs72552763)
- 440 M → I: in dbSNP:rs35956182
- 461 V → I: no changes in MPP(+) uptake when associated with V-408; dbSNP:rs34295611
- 465 G → R: reduction of the localization to the basolateral membrane; no MPP(+) uptake when associated with V-408; dbSNP:rs34059508; G→A: No changes in MPP(+) uptake.
- 488 R → M: no changes in MPP(+) uptake when associated with V-408; dbSNP:rs35270274
P36035 Carboxylic acid transporter protein homolog from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see paper)
26% identity, 36% coverage: 64:219/436 of query aligns to 186:331/616 of P36035
Sites not aligning to the query:
- 1 modified: Initiator methionine, Removed
- 9 modified: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
- 338 modified: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
O15244 Solute carrier family 22 member 2; Organic cation transporter 2; hOCT2 from Homo sapiens (Human) (see 8 papers)
28% identity, 38% coverage: 61:227/436 of query aligns to 158:298/555 of O15244
- M165 (≠ I71) to I: lower Vmax for MPP(+) transport; no change in transport efficiency (Vmax/Km) and clearance of cyclo(his-pro) and salsolinol; dbSNP:rs8177507
- Y169 (≠ H75) mutation to F: No change in TEA uptake.
- T201 (≠ A107) to M: in dbSNP:rs145450955
- Y241 (≠ A155) mutation to F: Slight decrease in TEA uptake. No change in tyrosine phosphorylation. Strong decrease in TEA uptake; when associated with F-362. Strong decrease in TEA and metformin uptake and YES1-mediated tyrosine phosphorylation; when associated with F-362 and F-377.
- Y257 (≠ F170) mutation to F: No change in TEA uptake.
- S270 (= S194) to A: decreased Ki value for TBA inhibition of MPP(+); no change in transport efficiency (Vmax/Km) and clearance of cyclo(his-pro) and salsolinol; dbSNP:rs316019
- Y279 (≠ I203) mutation to F: No change in TEA uptake.
- Y280 (≠ R204) mutation to F: No change in TEA uptake.
- P284 (≠ N208) mutation to A: Decreased TEA and metformin uptake. Decreased tyrosine phosphorylation.
- PESP-----R 284:288 (≠ NESPEFLASR 208:217) Proline-rich sequence
- S286 (= S210) mutation to A: No change in TEA and metformin uptake. No change in tyrosine phosphorylation.
- P287 (= P211) mutation to A: Decreased TEA and metformin uptake. Decreased tyrosine phosphorylation.
Sites not aligning to the query:
- 54 P → S: in dbSNP:rs8177504
- 73 Y→F: No change in TEA uptake.
- 92 Y→F: No change in TEA uptake.
- 128 Y→F: No change in TEA uptake.
- 362 Y→F: Decreased TEA uptake and YES1-mediated tyrosine phosphorylation. Strong decrease in TEA uptake; when associated with F-241. Strong decrease in TEA uptake; when associated with F-377. Strong decrease in TEA and metformin uptake and YES1-mediated tyrosine phosphorylation; when associated with F-241 and F-377.
- 377 Y→F: Slight decrease in TEA uptake. No change in tyrosine phosphorylation. Strong decrease in TEA uptake; when associated with F-362. Strong decrease in TEA and metformin uptake and YES1-mediated tyrosine phosphorylation; when associated with F-241 and F-362.
- 400 R → C: lower Vmax and reduced Ki value for TBA inhibition of MPP(+); lower transport efficiency (Vmax/Km) and clearance of cyclo(his-pro); no change in transport efficiency (Vmax/Km) and clearance of salsolinol; dbSNP:rs8177516
- 432 K → Q: lower Km value for MPP(+) and reduced Ki value for TBA inhibition of MPP; no change in transport efficiency (Vmax/Km) and clearance of cyclo(his-pro) and salsolinol; dbSNP:rs8177517
- 458 Y→F: No change in TEA uptake.
- 544 Y→F: No change in TEA uptake.
8et9A Cryo-em structure of the organic cation transporter 2 in complex with 1-methyl-4-phenylpyridinium (see paper)
24% identity, 53% coverage: 61:290/436 of query aligns to 156:375/517 of 8et9A
Sites not aligning to the query:
8sc2A Human oct1 bound to diltiazem in inward-open conformation (see paper)
27% identity, 41% coverage: 56:235/436 of query aligns to 143:292/453 of 8sc2A
Sites not aligning to the query:
P38695 Probable glucose transporter HXT5 from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see paper)
28% identity, 38% coverage: 68:232/436 of query aligns to 149:310/592 of P38695
Sites not aligning to the query:
- 61 modified: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Q9Y7Q9 Probable metabolite transporter C2H8.02 from Schizosaccharomyces pombe (strain 972 / ATCC 24843) (Fission yeast) (see paper)
25% identity, 35% coverage: 68:221/436 of query aligns to 98:259/583 of Q9Y7Q9
Sites not aligning to the query:
- 267 modified: Phosphoserine
- 269 modified: Phosphoserine
- 289 modified: Phosphoserine
- 290 modified: Phosphoserine
- 292 modified: Phosphoserine
- 330 modified: Phosphoserine
5eqiA Human glut1 in complex with cytochalasin b (see paper)
26% identity, 43% coverage: 49:236/436 of query aligns to 63:224/447 of 5eqiA
Sites not aligning to the query:
5eqhA Human glut1 in complex with inhibitor (2~{s})-3-(2-bromophenyl)-2-[2- (4-methoxyphenyl)ethanoylamino]-~{n}-[(1~{s})-1- phenylethyl]propanamide (see paper)
26% identity, 43% coverage: 49:236/436 of query aligns to 63:224/447 of 5eqhA
Sites not aligning to the query:
5eqgA Human glut1 in complex with inhibitor (2~{s})-3-(4-fluorophenyl)-2-[2- (3-hydroxyphenyl)ethanoylamino]-~{n}-[(1~{s})-1- phenylethyl]propanamide (see paper)
26% identity, 43% coverage: 49:236/436 of query aligns to 63:224/447 of 5eqgA
Sites not aligning to the query:
8sc6A Human oct1 bound to thiamine in inward-open conformation (see paper)
28% identity, 25% coverage: 56:164/436 of query aligns to 143:231/447 of 8sc6A
Sites not aligning to the query:
8sc3A Human oct1 bound to fenoterol in inward-open conformation (see paper)
28% identity, 25% coverage: 56:164/436 of query aligns to 143:231/445 of 8sc3A
Sites not aligning to the query:
P11166 Solute carrier family 2, facilitated glucose transporter member 1; Glucose transporter type 1, erythrocyte/brain; GLUT-1; HepG2 glucose transporter from Homo sapiens (Human) (see 23 papers)
26% identity, 43% coverage: 49:236/436 of query aligns to 71:232/492 of P11166
- M77 (≠ A55) to T: in EIG12; decreased glucose transport; dbSNP:rs1187210267
- G91 (= G81) to D: in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose; dbSNP:rs80359814
- R126 (= R121) to C: in GLUT1DS1, GLUT1DS2 and DYT9; reduced transporter activity; dbSNP:rs80359818; to H: in GLUT1DS1; significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid; 57% of wild-type glucose uptake activity; dbSNP:rs80359816
- G130 (= G125) to S: in GLUT1DS1; 75% of wild-type glucose uptake activity; dbSNP:rs80359819
- T137 (≠ W132) binding
- P149 (= P144) to A: in EIG12; uncertain significance
- R153 (= R148) to C: in GLUT1DS1; 44% of wild-type glucose uptake activity
- L169 (≠ I164) natural variant: Missing (in GLUT1DS1; 48% of wild-type glucose uptake activity; dbSNP:rs80359832)
- I192 (≠ S194) mutation to C: Strongly decreases glucose transport.
- L204 (≠ R204) mutation to C: Abolishes glucose transport.
- P205 (≠ L205) mutation to C: Abolishes glucose transport.
- R212 (≠ E212) to C: in GLUT1DS1 and DYT9; dbSNP:rs387907312
- R218 (≠ K222) to S: in EIG12; decreased glucose transport
- R223 (≠ E227) to P: in EIG12; mild phenotype; reduced transporter activity; impaired phosphorylation by PKC; dbSNP:rs397514564; to Q: in EIG12; uncertain significance; no effect on glucose transport; impaired phosphorylation by PKC; dbSNP:rs397514564; to W: in GLUT1DS1; impaired phosphorylation by PKC; dbSNP:rs796053248
- S226 (≠ P230) modified: Phosphoserine; by PKC/PRKCB; mutation to A: Abolishes phosphorylation by PKA, leading to impaired response to TPA.
- R232 (= R236) to C: in EIG12; the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%) compared to wild-type; dbSNP:rs387907313
Sites not aligning to the query:
- 34 N → S: in GLUT1DS1; 55% of wild-type glucose uptake activity; dbSNP:rs80359812
- 45 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→T: Loss of glycosylation site.
- 51 R → H: in EIG12; uncertain significance; dbSNP:rs201815571
- 60 T → M: in EIG12; uncertain significance; decreased glucose transport; dbSNP:rs142986731
- 243 E → V: in EIG12; decreased glucose transport
- 275 A → T: in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability; dbSNP:rs121909740
- 282 binding
- 282:285 natural variant: Missing (in GLUT1DS2; accompanied by hemolytic anemia and altered erythrocyte ion concentrations; the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium)
- 286 G → D: in SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage; dbSNP:rs864309514
- 295 T → M: in GLUT1DS1; 75% of wild-type glucose uptake activity; dbSNP:rs80359823
- 303 V → L: found in a patient with GLUT1 deficiency syndrome; dbSNP:rs1205631854
- 314 G → S: in GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability; dbSNP:rs121909739
- 324 S → L: in GLUT1DS2; mild phenotype; reduced transporter activity; dbSNP:rs796053253
- 329 E → Q: in GLUT1DS1; stabilizes the inward-open conformation
- 333 R → Q: in GLUT1DS1 and GLUT1DS2; dbSNP:rs1553155986; R → W: in GLUT1DS1; 43% of wild-type glucose uptake activity; dbSNP:rs80359825
- 340 G→C: Strongly decreases glucose transport.
- 388 binding
- 411 Not glycosylated; binding ; N → S: in EIG12; decreased glucose transport; dbSNP:rs398123069
- 435 natural variant: Missing (in SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage)
- 458 R → W: in EIG12; decreased glucose transport; dbSNP:rs13306758
- 485 P → L: in GLUT1DS1; creates a dileucine internalization motif that promotes recruitment of clathrin and mislocalization of the protein to endocytic compartments
Query Sequence
>PfGW456L13_2351 FitnessBrowser__pseudo13_GW456_L13:PfGW456L13_2351
MKPQASSQPRRAAAAAFIGTMIEWYDFYIYATAAALVFGALFFPSDDKLFSTMAAFGTFA
VGFFARPLGGIVFGHIGDRIGRKKSLIITLLMMGVVTVCIGLLPTYAQIGAAAPVLLILL
RIVQGIAVGGEWGGAVLMAGEHAPKGRRNFFASFAQLGSPAGLILSLLAFSAVTRLPEED
LMSWGWRLPFLASSLLLLVGLAIRLGVNESPEFLASRELASKNKRKEQAPVMEVLRTAWR
PLLLCIGANTLGIAGVYFTNTFMIAYTTQQLELPRSLILECLFVVAIIQFCIQPLAAWVA
EKIGATRFLCLVSLLAMASPYPMFVLVSSAQAPLIILGIALAVVCMASFYAVIAGYVSGM
FETRVRYTAISLAYQICGAVAGGLTPLIGTLLAHRFVGQWWPMAVFYSLIAATSLLCVLS
LARRHASAERLELAKA
Or try a new SitesBLAST search
SitesBLAST's Database
SitesBLAST's database includes
(1) SwissProt
entries with experimentally-supported functional features;
and (2) protein structures with bound ligands, from the
BioLip database.
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory