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P06280

- AGAL_HUMAN

UniProt

P06280 - AGAL_HUMAN

Protein

Alpha-galactosidase A

Gene

GLA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 171 (01 Oct 2014)
      Sequence version 1 (01 Aug 1988)
      Previous versions | rss
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    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 binding Source: UniProtKB
    6. protein homodimerization activity Source: UniProtKB
    7. raffinose alpha-galactosidase activity Source: UniProtKB-EC
    8. 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

    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: UniProt
    4. Golgi apparatus Source: UniProtKB
    5. lysosomal lumen Source: Reactome
    6. lysosome Source: UniProtKB

    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.
    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.
    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.
    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

    ArrayExpressiP06280.
    BgeeiP06280.
    CleanExiHS_GLA.
    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 – 465
    Helixi47 – 504
    Turni56 – 583
    Turni60 – 623
    Beta strandi63 – 653
    Helixi66 – 7813
    Helixi81 – 844
    Beta strandi88 – 903
    Beta strandi102 – 1043
    Turni110 – 1123
    Beta strandi113 – 1153
    Helixi116 – 12611
    Beta strandi130 – 14011
    Beta strandi144 – 1463
    Turni149 – 1513
    Helixi152 – 16211
    Beta strandi166 – 1705
    Helixi177 – 19317
    Beta strandi199 – 2024
    Helixi205 – 2084
    Turni209 – 2113
    Helixi216 – 2227
    Beta strandi224 – 2274
    Helixi236 – 24813
    Helixi250 – 2534
    Turni254 – 2563
    Beta strandi261 – 2644
    Beta strandi272 – 2743
    Helixi277 – 28913
    Beta strandi294 – 2963
    Helixi305 – 3117
    Helixi314 – 3207
    Beta strandi329 – 3346
    Beta strandi337 – 3437
    Helixi345 – 3473
    Beta strandi349 – 3557
    Beta strandi359 – 3613
    Beta strandi363 – 3686
    Helixi369 – 3713
    Helixi373 – 3753
    Turni376 – 3783
    Beta strandi379 – 39012
    Beta strandi392 – 3987
    Beta strandi402 – 4076
    Beta strandi412 – 4198
    Helixi420 – 4245

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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

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    MQLRNPELHL GCALALRFLA LVSWDIPGAR ALDNGLARTP TMGWLHWERF    50
    MCNLDCQEEP DSCISEKLFM EMAELMVSEG WKDAGYEYLC IDDCWMAPQR 100
    DSEGRLQADP QRFPHGIRQL ANYVHSKGLK LGIYADVGNK TCAGFPGSFG 150
    YYDIDAQTFA DWGVDLLKFD GCYCDSLENL ADGYKHMSLA LNRTGRSIVY 200
    SCEWPLYMWP FQKPNYTEIR QYCNHWRNFA DIDDSWKSIK SILDWTSFNQ 250
    ERIVDVAGPG GWNDPDMLVI GNFGLSWNQQ VTQMALWAIM AAPLFMSNDL 300
    RHISPQAKAL LQDKDVIAIN QDPLGKQGYQ LRQGDNFEVW ERPLSGLAWA 350
    VAMINRQEIG GPRSYTIAVA SLGKGVACNP ACFITQLLPV KRKLGFYEWT 400
    SRLRSHINPT GTVLLQLENT MQMSLKDLL 429
    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.
    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