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P06280

- AGAL_HUMAN

UniProt

P06280 - AGAL_HUMAN

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Protein

Alpha-galactosidase A

Gene

GLA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei170 – 1701NucleophileBy similarity
Active sitei231 – 2311Proton donorBy similarity

GO - Molecular functioni

  1. alpha-galactosidase activity Source: UniProtKB
  2. catalytic activity Source: UniProtKB
  3. galactoside binding Source: Ensembl
  4. hydrolase activity Source: UniProtKB
  5. protein homodimerization activity Source: UniProtKB
  6. raffinose alpha-galactosidase activity Source: UniProtKB-EC
  7. receptor binding Source: UniProtKB

GO - Biological processi

  1. glycoside catabolic process Source: RefGenome
  2. glycosphingolipid catabolic process Source: UniProtKB
  3. glycosphingolipid metabolic process Source: Reactome
  4. glycosylceramide catabolic process Source: UniProtKB
  5. negative regulation of nitric oxide biosynthetic process Source: UniProtKB
  6. negative regulation of nitric-oxide synthase activity Source: UniProtKB
  7. oligosaccharide metabolic process Source: UniProtKB
  8. small molecule metabolic process Source: Reactome
  9. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS02389-MONOMER.
ReactomeiREACT_116105. Glycosphingolipid metabolism.
SABIO-RKP06280.

Protein family/group databases

CAZyiGH27. Glycoside Hydrolase Family 27.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-galactosidase A (EC:3.2.1.22)
Alternative name(s):
Alpha-D-galactosidase A
Alpha-D-galactoside galactohydrolase
Melibiase
INN: Agalsidase
Gene namesi
Name:GLA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:4296. GLA.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. extracellular region Source: UniProtKB
  3. extracellular vesicular exosome Source: UniProtKB
  4. Golgi apparatus Source: UniProtKB
  5. lysosomal lumen Source: Reactome
  6. lysosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Fabry disease (FD) [MIM:301500]: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.38 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 143Missing in FD; has 4% of wild-type activity. 1 Publication
VAR_062550
Natural varianti20 – 201A → P in FD; atypical. 2 Publications
VAR_012362
Natural varianti31 – 311A → V in FD. 2 Publications
VAR_012363
Natural varianti32 – 321L → P in FD. 1 Publication
VAR_000431
Natural varianti34 – 341N → S in FD. 3 Publications
Corresponds to variant rs28935192 [ dbSNP | Ensembl ].
VAR_000432
Natural varianti35 – 351G → R in FD. 1 Publication
VAR_000433
Natural varianti40 – 401P → L in FD. 1 Publication
VAR_012364
Natural varianti40 – 401P → S in FD. 3 Publications
VAR_000434
Natural varianti42 – 421M → L in FD. 1 Publication
VAR_062551
Natural varianti42 – 421M → V in FD. 2 Publications
VAR_012365
Natural varianti43 – 431G → R in FD. 1 Publication
VAR_062552
Natural varianti45 – 462LH → RS in FD.
VAR_012366
Natural varianti46 – 461H → P in FD; has 36% of wild-type activity. 1 Publication
VAR_062553
Natural varianti46 – 461H → R in FD. 1 Publication
VAR_012367
Natural varianti46 – 461H → Y in FD. 1 Publication
VAR_012368
Natural varianti47 – 471W → G in FD. 1 Publication
VAR_012369
Natural varianti49 – 491R → L in FD. 1 Publication
VAR_000435
Natural varianti49 – 491R → P in FD. 1 Publication
VAR_012370
Natural varianti49 – 491R → S in FD. 1 Publication
VAR_012371
Natural varianti52 – 521C → R in FD. 2 Publications
VAR_000436
Natural varianti52 – 521C → S in FD.
VAR_000437
Natural varianti56 – 561C → F in FD.
VAR_000438
Natural varianti56 – 561C → G in FD. 1 Publication
Corresponds to variant rs28935193 [ dbSNP | Ensembl ].
VAR_000439
Natural varianti56 – 561C → Y in FD. 1 Publication
VAR_012372
Natural varianti59 – 591E → K in FD.
VAR_000440
Natural varianti65 – 651S → T in FD; does not affect enzyme function. 1 Publication
VAR_032290
Natural varianti66 – 661E → Q in FD; has 52% of wild-type activity. 4 Publications
Corresponds to variant rs28935191 [ dbSNP | Ensembl ].
VAR_000441
Natural varianti72 – 721M → V in FD; atypical. 2 Publications
VAR_000442
Natural varianti85 – 851G → D in FD. 1 Publication
VAR_000443
Natural varianti86 – 861Y → C in FD. 1 Publication
VAR_012373
Natural varianti89 – 891L → P in FD. 1 Publication
VAR_012374
Natural varianti89 – 891L → R in FD.
VAR_000444
Natural varianti91 – 911I → T in FD; mild. 1 Publication
VAR_012375
Natural varianti92 – 921D → H in FD. 1 Publication
VAR_012376
Natural varianti92 – 921D → Y in FD. 1 Publication
VAR_012377
Natural varianti93 – 931D → G in FD. 1 Publication
VAR_012378
Natural varianti93 – 931D → N in FD; has no enzyme activity. 2 Publications
VAR_062554
Natural varianti94 – 941C → S in FD. 1 Publication
VAR_012379
Natural varianti94 – 941C → Y in FD. 1 Publication
VAR_012380
Natural varianti95 – 951W → S in FD. 2 Publications
VAR_012381
Natural varianti97 – 971A → V in FD. 1 Publication
VAR_012382
Natural varianti100 – 1001R → K in FD.
VAR_000445
Natural varianti100 – 1001R → T in FD. 1 Publication
VAR_012383
Natural varianti112 – 1176Missing in FD.
VAR_000446
Natural varianti112 – 1121R → C in FD. 7 Publications
VAR_000447
Natural varianti112 – 1121R → H in FD; mild. 2 Publications
VAR_000448
Natural varianti112 – 1121R → S in FD. 1 Publication
VAR_062555
Natural varianti113 – 1131F → L in FD; mild. 1 Publication
VAR_012384
Natural varianti113 – 1131F → S in FD. 1 Publication
VAR_012385
Natural varianti120 – 1212LA → PT in FD.
VAR_000449
Natural varianti120 – 1201L → V in FD; has 42% of wild-type activity. 1 Publication
VAR_062556
Natural varianti128 – 1281G → E in FD. 1 Publication
VAR_000450
Natural varianti131 – 1311L → P in FD.
VAR_000451
Natural varianti134 – 1341Y → S in FD. 2 Publications
VAR_012386
Natural varianti135 – 1351A → V in FD. 1 Publication
VAR_062557
Natural varianti138 – 1381G → R in FD. 1 Publication
VAR_012387
Natural varianti142 – 1421C → R in FD. 1 Publication
VAR_012388
Natural varianti142 – 1421C → Y in FD. 2 Publications
VAR_000452
Natural varianti143 – 1431A → P in FD. 1 Publication
VAR_000453
Natural varianti143 – 1431A → T in FD. 3 Publications
VAR_012389
Natural varianti144 – 1441G → V in FD.
VAR_000454
Natural varianti146 – 1461P → S in FD; mild.
Corresponds to variant rs28935194 [ dbSNP | Ensembl ].
VAR_000455
Natural varianti148 – 1481S → N in FD. 1 Publication
VAR_012390
Natural varianti148 – 1481S → R in FD. 2 Publications
VAR_012391
Natural varianti156 – 1561A → T in FD. 1 Publication
Corresponds to variant rs28935195 [ dbSNP | Ensembl ].
VAR_000456
Natural varianti156 – 1561A → V in FD. 3 Publications
VAR_000457
Natural varianti162 – 1621W → C in FD. 1 Publication
VAR_012392
Natural varianti162 – 1621W → R in FD. 1 Publication
Corresponds to variant rs28935196 [ dbSNP | Ensembl ].
VAR_000458
Natural varianti163 – 1631G → V in FD. 1 Publication
VAR_012393
Natural varianti165 – 1651D → V in FD. 2 Publications
VAR_000459
Natural varianti166 – 1661L → V in FD. 3 Publications
VAR_000460
Natural varianti170 – 1701D → V in FD. 1 Publication
VAR_012394
Natural varianti171 – 1711G → D in FD. 1 Publication
VAR_062558
Natural varianti172 – 1721C → R in FD. 1 Publication
VAR_012395
Natural varianti172 – 1721C → Y in FD.
VAR_000461
Natural varianti183 – 1831G → D in FD. 1 Publication
VAR_012396
Natural varianti187 – 1871M → V in FD. 1 Publication
VAR_012397
Natural varianti201 – 2011S → F in FD. 1 Publication
VAR_062559
Natural varianti202 – 2021C → W in FD. 1 Publication
Corresponds to variant rs28936082 [ dbSNP | Ensembl ].
VAR_000462
Natural varianti202 – 2021C → Y in FD. 1 Publication
VAR_012398
Natural varianti205 – 2073Missing in FD. 1 Publication
VAR_012399
Natural varianti205 – 2051P → T in FD. 2 Publications
VAR_000463
Natural varianti215 – 2151N → S in FD; mild. 5 Publications
Corresponds to variant rs28935197 [ dbSNP | Ensembl ].
VAR_000464
Natural varianti216 – 2161Y → D in FD. 1 Publication
VAR_012400
Natural varianti219 – 2191I → N in FD.
VAR_000465
Natural varianti219 – 2191I → T in FD; has 46% of wild-type activity. 1 Publication
VAR_062560
Natural varianti223 – 2231C → G in FD. 1 Publication
VAR_012401
Natural varianti224 – 2241N → D in FD. 2 Publications
VAR_000466
Natural varianti224 – 2241N → S in FD. 1 Publication
VAR_012402
Natural varianti226 – 2261W → R in FD. 1 Publication
VAR_012403
Natural varianti227 – 2271R → Q in FD. 2 Publications
Corresponds to variant rs28935198 [ dbSNP | Ensembl ].
VAR_000467
Natural varianti230 – 2301A → T in FD. 1 Publication
VAR_012404
Natural varianti231 – 2311D → N in FD. 1 Publication
VAR_000468
Natural varianti234 – 2341D → E in FD. 1 Publication
VAR_062561
Natural varianti235 – 2351S → C in FD. 1 Publication
VAR_012405
Natural varianti236 – 2361W → C in FD. 1 Publication
VAR_012406
Natural varianti236 – 2361W → L in FD. 1 Publication
VAR_012407
Natural varianti242 – 2421I → N in FD. 1 Publication
VAR_012408
Natural varianti244 – 2441D → H in FD. 1 Publication
VAR_012409
Natural varianti244 – 2441D → N in FD.
VAR_000469
Natural varianti247 – 2471S → SWTS in FD.
VAR_000470
Natural varianti258 – 2581G → R in FD. 1 Publication
VAR_012410
Natural varianti259 – 2591P → L in FD. 1 Publication
VAR_012411
Natural varianti259 – 2591P → R in FD. 1 Publication
VAR_012412
Natural varianti260 – 2601G → A in FD. 2 Publications
VAR_012413
Natural varianti261 – 2611G → D in FD. 2 Publications
VAR_012414
Natural varianti263 – 2631N → S in FD. 1 Publication
VAR_012415
Natural varianti264 – 2641D → V in FD. 2 Publications
Corresponds to variant rs28935486 [ dbSNP | Ensembl ].
VAR_000471
Natural varianti264 – 2641D → Y in FD. 1 Publication
VAR_062562
Natural varianti265 – 2651P → R in FD. 1 Publication
VAR_012416
Natural varianti266 – 2661D → H in FD. 1 Publication
VAR_032291
Natural varianti266 – 2661D → N in FD. 1 Publication
VAR_012418
Natural varianti266 – 2661D → V in FD. 1 Publication
Corresponds to variant rs28935487 [ dbSNP | Ensembl ].
VAR_000472
Natural varianti267 – 2671M → I in FD. 2 Publications
VAR_012419
Natural varianti269 – 2691V → A in FD. 1 Publication
Corresponds to variant rs28935488 [ dbSNP | Ensembl ].
VAR_000473
Natural varianti272 – 2721N → K in FD.
VAR_000474
Natural varianti272 – 2721N → S in FD. 1 Publication
Corresponds to variant rs28935495 [ dbSNP | Ensembl ].
VAR_032292
Natural varianti276 – 2761S → G in FD. 1 Publication
VAR_062563
Natural varianti279 – 2791Q → E in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells. 3 Publications
Corresponds to variant rs28935485 [ dbSNP | Ensembl ].
VAR_000475
Natural varianti279 – 2791Q → H in FD. 1 Publication
VAR_012420
Natural varianti280 – 2801Q → H in FD. 1 Publication
VAR_012421
Natural varianti284 – 2841M → T in FD. 1 Publication
VAR_000476
Natural varianti285 – 2851A → P in FD. 1 Publication
VAR_062564
Natural varianti287 – 2871W → C in FD. 1 Publication
VAR_012422
Natural varianti287 – 2871W → G in FD. 1 Publication
VAR_012423
Natural varianti288 – 2881A → D in FD.
VAR_000477
Natural varianti289 – 2891I → F in FD. 1 Publication
VAR_012424
Natural varianti296 – 2961M → I in FD; atypical. 3 Publications
VAR_012425
Natural varianti296 – 2961M → V in FD; mild. 1 Publication
VAR_000478
Natural varianti297 – 2971S → F in FD. 1 Publication
Corresponds to variant rs28935489 [ dbSNP | Ensembl ].
VAR_000479
Natural varianti298 – 2981N → H in FD. 2 Publications
VAR_012426
Natural varianti298 – 2981N → K in FD. 1 Publication
VAR_000480
Natural varianti298 – 2981N → S in FD. 1 Publication
VAR_012427
Natural varianti300 – 3001L → F in FD. 1 Publication
VAR_062565
Natural varianti301 – 3011R → Q in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells. 8 Publications
VAR_000481
Natural varianti313 – 3131D → Y in FD. 3 Publications
Corresponds to variant rs28935490 [ dbSNP | Ensembl ].
VAR_000482
Natural varianti316 – 3227Missing in FD. 1 Publication
VAR_012429
Natural varianti316 – 3161V → E in FD. 1 Publication
VAR_000483
Natural varianti320 – 3201N → K in FD. 2 Publications
VAR_012430
Natural varianti320 – 3201N → Y in FD. 1 Publication
VAR_012431
Natural varianti321 – 3211Q → E in FD. 1 Publication
VAR_012432
Natural varianti327 – 3271Q → K in FD. 2 Publications
Corresponds to variant rs28935491 [ dbSNP | Ensembl ].
VAR_000484
Natural varianti328 – 3281G → A in FD. 2 Publications
Corresponds to variant rs28935492 [ dbSNP | Ensembl ].
VAR_000486
Natural varianti328 – 3281G → R in FD. 3 Publications
VAR_000485
Natural varianti328 – 3281G → V in FD. 1 Publication
VAR_062566
Natural varianti338 – 3381E → K in FD. 1 Publication
VAR_062567
Natural varianti340 – 3401W → R in FD. 1 Publication
VAR_012433
Natural varianti341 – 3411E → K in FD. 1 Publication
VAR_012434
Natural varianti342 – 3421R → Q in FD; severe.
Corresponds to variant rs28935493 [ dbSNP | Ensembl ].
VAR_000487
Natural varianti356 – 3561R → Q in FD; has 15% of wild-type activity. 1 Publication
VAR_062568
Natural varianti356 – 3561R → W in FD; severe. 1 Publication
VAR_000488
Natural varianti358 – 3581E → A in FD. 1 Publication
VAR_062569
Natural varianti358 – 3581E → K in FD. 1 Publication
VAR_000489
Natural varianti358 – 3581Missing in FD. 4 Publications
VAR_000490
Natural varianti360 – 3601G → C in FD; has 6% of wild-type activity. 1 Publication
VAR_062570
Natural varianti361 – 3611G → R in FD; severe. 1 Publication
Corresponds to variant rs28935494 [ dbSNP | Ensembl ].
VAR_000491
Natural varianti363 – 3631R → H in FD. 1 Publication
VAR_012435
Natural varianti373 – 3731G → D in FD. 1 Publication
VAR_012436
Natural varianti373 – 3731G → S in FD. 2 Publications
VAR_012437
Natural varianti377 – 3771A → D in FD. 1 Publication
VAR_012438
Natural varianti378 – 3781C → Y in FD. 1 Publication
VAR_012439
Natural varianti383 – 3831Missing in FD; severe; with facial telangiectasias. 1 Publication
VAR_000492
Natural varianti404 – 4041Missing in FD; mild. 3 Publications
VAR_000494
Natural varianti409 – 4091P → A in FD. 1 Publication
VAR_012440
Natural varianti409 – 4091P → T in FD. 1 Publication
VAR_012441
Natural varianti410 – 4101T → A in FD; mild. 1 Publication
VAR_032293
Natural varianti414 – 4141L → S in FD. 1 Publication
VAR_062571

Pharmaceutical usei

Available under the names Replagal (from Shire) and Fabrazyme (from Genzyme). Used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. The differences between Replagal (also known as agalsidase alpha) and Fabrazyme (also known as agalsidase beta) lies in the glycosylation patterns. Agalsidase beta is produced in the hamster CHO cell line while agalsidase alpha is produced in human cell lines.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi301500. phenotype.
Orphaneti324. Fabry disease.
PharmGKBiPA28707.

Protein family/group databases

Allergomei9621. Hom s alpha-Galactosidase.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3131Add
BLAST
Chaini32 – 429398Alpha-galactosidase APRO_0000001004Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi52 ↔ 94
Disulfide bondi56 ↔ 63
Glycosylationi139 – 1391N-linked (GlcNAc...)1 Publication
Disulfide bondi142 ↔ 172
Glycosylationi192 – 1921N-linked (GlcNAc...)1 Publication
Disulfide bondi202 ↔ 223
Glycosylationi215 – 2151N-linked (GlcNAc...)2 Publications
Disulfide bondi378 ↔ 382
Glycosylationi408 – 4081N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP06280.
PaxDbiP06280.
PeptideAtlasiP06280.
PRIDEiP06280.

PTM databases

PhosphoSiteiP06280.

Expressioni

Gene expression databases

BgeeiP06280.
CleanExiHS_GLA.
ExpressionAtlasiP06280. baseline and differential.
GenevestigatoriP06280.

Organism-specific databases

HPAiHPA000237.
HPA000966.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108981. 15 interactions.
IntActiP06280. 4 interactions.
STRINGi9606.ENSP00000218516.

Structurei

Secondary structure

1
429
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi42 – 465Combined sources
Helixi47 – 504Combined sources
Turni56 – 583Combined sources
Turni60 – 623Combined sources
Beta strandi63 – 653Combined sources
Helixi66 – 7813Combined sources
Helixi81 – 844Combined sources
Beta strandi88 – 903Combined sources
Beta strandi102 – 1043Combined sources
Turni110 – 1123Combined sources
Beta strandi113 – 1153Combined sources
Helixi116 – 12611Combined sources
Beta strandi130 – 14011Combined sources
Beta strandi144 – 1463Combined sources
Turni149 – 1513Combined sources
Helixi152 – 16211Combined sources
Beta strandi166 – 1705Combined sources
Helixi177 – 19317Combined sources
Beta strandi199 – 2024Combined sources
Helixi205 – 2084Combined sources
Turni209 – 2113Combined sources
Helixi216 – 2227Combined sources
Beta strandi224 – 2274Combined sources
Helixi236 – 24813Combined sources
Helixi250 – 2534Combined sources
Turni254 – 2563Combined sources
Beta strandi261 – 2644Combined sources
Beta strandi272 – 2743Combined sources
Helixi277 – 28913Combined sources
Beta strandi294 – 2963Combined sources
Helixi305 – 3117Combined sources
Helixi314 – 3207Combined sources
Beta strandi329 – 3346Combined sources
Beta strandi337 – 3437Combined sources
Helixi345 – 3473Combined sources
Beta strandi349 – 3557Combined sources
Beta strandi359 – 3613Combined sources
Beta strandi363 – 3686Combined sources
Helixi369 – 3713Combined sources
Helixi373 – 3753Combined sources
Turni376 – 3783Combined sources
Beta strandi379 – 39012Combined sources
Beta strandi392 – 3987Combined sources
Beta strandi402 – 4076Combined sources
Beta strandi412 – 4198Combined sources
Helixi420 – 4245Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1R46X-ray3.25A/B32-429[»]
1R47X-ray3.45A/B32-429[»]
3GXNX-ray3.01A/B32-429[»]
3GXPX-ray2.20A/B32-429[»]
3GXTX-ray2.70A/B32-429[»]
3HG2X-ray2.30A/B32-429[»]
3HG3X-ray1.90A/B32-429[»]
3HG4X-ray2.30A/B32-429[»]
3HG5X-ray2.30A/B32-429[»]
3LX9X-ray2.04A/B32-429[»]
3LXAX-ray3.04A/B32-429[»]
3LXBX-ray2.85A/B32-429[»]
3LXCX-ray2.35A/B32-429[»]
3S5YX-ray2.10A/B32-429[»]
3S5ZX-ray2.00A/B32-429[»]
3TV8X-ray2.64A/B32-429[»]
4NXSX-ray2.55A/B32-429[»]
ProteinModelPortaliP06280.
SMRiP06280. Positions 32-426.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP06280.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni203 – 2075Substrate binding

Sequence similaritiesi

Belongs to the glycosyl hydrolase 27 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG68897.
HOGENOMiHOG000161224.
HOVERGENiHBG001989.
InParanoidiP06280.
KOiK01189.
OMAiNDLRDIC.
OrthoDBiEOG7F24SV.
PhylomeDBiP06280.
TreeFamiTF312909.

Family and domain databases

Gene3Di2.60.40.1180. 1 hit.
3.20.20.70. 1 hit.
InterProiIPR013785. Aldolase_TIM.
IPR013780. Glyco_hydro_13_b.
IPR002241. Glyco_hydro_27.
IPR000111. Glyco_hydro_GHD.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF02065. Melibiase. 1 hit.
[Graphical view]
PRINTSiPR00740. GLHYDRLASE27.
SUPFAMiSSF51445. SSF51445. 1 hit.
PROSITEiPS00512. ALPHA_GALACTOSIDASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P06280-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MQLRNPELHL GCALALRFLA LVSWDIPGAR ALDNGLARTP TMGWLHWERF
60 70 80 90 100
MCNLDCQEEP DSCISEKLFM EMAELMVSEG WKDAGYEYLC IDDCWMAPQR
110 120 130 140 150
DSEGRLQADP QRFPHGIRQL ANYVHSKGLK LGIYADVGNK TCAGFPGSFG
160 170 180 190 200
YYDIDAQTFA DWGVDLLKFD GCYCDSLENL ADGYKHMSLA LNRTGRSIVY
210 220 230 240 250
SCEWPLYMWP FQKPNYTEIR QYCNHWRNFA DIDDSWKSIK SILDWTSFNQ
260 270 280 290 300
ERIVDVAGPG GWNDPDMLVI GNFGLSWNQQ VTQMALWAIM AAPLFMSNDL
310 320 330 340 350
RHISPQAKAL LQDKDVIAIN QDPLGKQGYQ LRQGDNFEVW ERPLSGLAWA
360 370 380 390 400
VAMINRQEIG GPRSYTIAVA SLGKGVACNP ACFITQLLPV KRKLGFYEWT
410 420
SRLRSHINPT GTVLLQLENT MQMSLKDLL
Length:429
Mass (Da):48,767
Last modified:August 1, 1988 - v1
Checksum:i613F8BF21B107D7B
GO

RNA editingi

Partially edited.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 143Missing in FD; has 4% of wild-type activity. 1 Publication
VAR_062550
Natural varianti20 – 201A → P in FD; atypical. 2 Publications
VAR_012362
Natural varianti31 – 311A → V in FD. 2 Publications
VAR_012363
Natural varianti32 – 321L → P in FD. 1 Publication
VAR_000431
Natural varianti34 – 341N → S in FD. 3 Publications
Corresponds to variant rs28935192 [ dbSNP | Ensembl ].
VAR_000432
Natural varianti35 – 351G → R in FD. 1 Publication
VAR_000433
Natural varianti40 – 401P → L in FD. 1 Publication
VAR_012364
Natural varianti40 – 401P → S in FD. 3 Publications
VAR_000434
Natural varianti42 – 421M → L in FD. 1 Publication
VAR_062551
Natural varianti42 – 421M → V in FD. 2 Publications
VAR_012365
Natural varianti43 – 431G → R in FD. 1 Publication
VAR_062552
Natural varianti45 – 462LH → RS in FD.
VAR_012366
Natural varianti46 – 461H → P in FD; has 36% of wild-type activity. 1 Publication
VAR_062553
Natural varianti46 – 461H → R in FD. 1 Publication
VAR_012367
Natural varianti46 – 461H → Y in FD. 1 Publication
VAR_012368
Natural varianti47 – 471W → G in FD. 1 Publication
VAR_012369
Natural varianti49 – 491R → L in FD. 1 Publication
VAR_000435
Natural varianti49 – 491R → P in FD. 1 Publication
VAR_012370
Natural varianti49 – 491R → S in FD. 1 Publication
VAR_012371
Natural varianti52 – 521C → R in FD. 2 Publications
VAR_000436
Natural varianti52 – 521C → S in FD.
VAR_000437
Natural varianti56 – 561C → F in FD.
VAR_000438
Natural varianti56 – 561C → G in FD. 1 Publication
Corresponds to variant rs28935193 [ dbSNP | Ensembl ].
VAR_000439
Natural varianti56 – 561C → Y in FD. 1 Publication
VAR_012372
Natural varianti59 – 591E → K in FD.
VAR_000440
Natural varianti65 – 651S → T in FD; does not affect enzyme function. 1 Publication
VAR_032290
Natural varianti66 – 661E → Q in FD; has 52% of wild-type activity. 4 Publications
Corresponds to variant rs28935191 [ dbSNP | Ensembl ].
VAR_000441
Natural varianti72 – 721M → V in FD; atypical. 2 Publications
VAR_000442
Natural varianti85 – 851G → D in FD. 1 Publication
VAR_000443
Natural varianti86 – 861Y → C in FD. 1 Publication
VAR_012373
Natural varianti89 – 891L → P in FD. 1 Publication
VAR_012374
Natural varianti89 – 891L → R in FD.
VAR_000444
Natural varianti91 – 911I → T in FD; mild. 1 Publication
VAR_012375
Natural varianti92 – 921D → H in FD. 1 Publication
VAR_012376
Natural varianti92 – 921D → Y in FD. 1 Publication
VAR_012377
Natural varianti93 – 931D → G in FD. 1 Publication
VAR_012378
Natural varianti93 – 931D → N in FD; has no enzyme activity. 2 Publications
VAR_062554
Natural varianti94 – 941C → S in FD. 1 Publication
VAR_012379
Natural varianti94 – 941C → Y in FD. 1 Publication
VAR_012380
Natural varianti95 – 951W → S in FD. 2 Publications
VAR_012381
Natural varianti97 – 971A → V in FD. 1 Publication
VAR_012382
Natural varianti100 – 1001R → K in FD.
VAR_000445
Natural varianti100 – 1001R → T in FD. 1 Publication
VAR_012383
Natural varianti112 – 1176Missing in FD.
VAR_000446
Natural varianti112 – 1121R → C in FD. 7 Publications
VAR_000447
Natural varianti112 – 1121R → H in FD; mild. 2 Publications
VAR_000448
Natural varianti112 – 1121R → S in FD. 1 Publication
VAR_062555
Natural varianti113 – 1131F → L in FD; mild. 1 Publication
VAR_012384
Natural varianti113 – 1131F → S in FD. 1 Publication
VAR_012385
Natural varianti120 – 1212LA → PT in FD.
VAR_000449
Natural varianti120 – 1201L → V in FD; has 42% of wild-type activity. 1 Publication
VAR_062556
Natural varianti128 – 1281G → E in FD. 1 Publication
VAR_000450
Natural varianti131 – 1311L → P in FD.
VAR_000451
Natural varianti134 – 1341Y → S in FD. 2 Publications
VAR_012386
Natural varianti135 – 1351A → V in FD. 1 Publication
VAR_062557
Natural varianti138 – 1381G → R in FD. 1 Publication
VAR_012387