• GBAglucosidase, beta; acid (includes glucosylceramidase)

  • Detail information

    Gene Symbol GBA
    Full name glucosidase, beta; acid (includes glucosylceramidase)
    Synonym GBA1, GCB, GLUC
    Genome position chromosome: 1; Location: 1q21
    155214487 .. 155204242 (strand : -)
    Links EntrezGene
    UCSC
    OMIM

    The GRCh37/hg19 sequence assembly is used for the human genomic reference sequence.

  • Sequence information

    Exon : Intron 100:1 50:1 10:1 3:1 1:1   Age onset & duration hide show

    expanded image




    a.a. : NP_001005749.1

    mRNA : NM_001005749.1

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  • Mutation & Clinical information

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  • Multiple alignments

    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)

    Multiple alignments of orthologous sequences

  • 3D structure

    show 1ogs.pdb

  • Structure information

    Exon Start AA End AA Structure
    1, 2 1 39 Signal peptide
    2 21 39 Signal peptide
    3, 4, 5, 6, 7, 8, 9, 10, 11 40 536 Chain
    7 274 274 Active site
    8 379 379 Active site
    3 58 58 Glycosylation site
    3 98 98 Glycosylation site
    5 185 185 Glycosylation site
    7 309 309 Glycosylation site
    10 501 501 Glycosylation site
    3 43 55 Disulfide bond
    3 57 62 Disulfide bond
    1, 2, 3, 4, 5 1 161 Splice variant
    1, 2 1 20 Splice variant
    9 422 423 Splice variant
    9, 10, 11 425 536 Splice variant
    3 54 54 Sequence variant
    3 55 55 Sequence variant
    3 63 63 Sequence variant
    3 76 76 Sequence variant
    3 80 80 Sequence variant
    3 82 82 Sequence variant
    3 85 85 Sequence variant
    3 87 87 Sequence variant
    3 87 87 Sequence variant
    3 92 92 Sequence variant
    4 118 118 Sequence variant
    4 129 129 Sequence variant
    4 146 146 Sequence variant
    4 152 152 Sequence variant
    5 156 156 Sequence variant
    5 158 158 Sequence variant
    5 158 158 Sequence variant
    5 159 159 Sequence variant
    5 159 159 Sequence variant
    5 161 161 Sequence variant
    5 161 161 Sequence variant
    5 162 162 Sequence variant
    5 166 166 Sequence variant
    5 170 170 Sequence variant
    5 170 170 Sequence variant
    5 173 173 Sequence variant
    5 173 173 Sequence variant
    5 175 175 Sequence variant
    5 179 179 Sequence variant
    5 196 196 Sequence variant
    6 198 198 Sequence variant
    6 198 198 Sequence variant
    6 200 200 Sequence variant
    6 200 200 Sequence variant
    6 201 201 Sequence variant
    6 209 209 Sequence variant
    6 209 209 Sequence variant
    6 213 213 Sequence variant
    6 215 215 Sequence variant
    6 217 217 Sequence variant
    6 221 221 Sequence variant
    6 221 221 Sequence variant
    6 223 223 Sequence variant
    6 224 224 Sequence variant
    6 227 227 Sequence variant
    6 227 227 Sequence variant
    6 228 228 Sequence variant
    6 229 229 Sequence variant
    6 229 229 Sequence variant
    6 230 230 Sequence variant
    6 230 230 Sequence variant
    6 232 232 Sequence variant
    6 234 234 Sequence variant
    6 234 234 Sequence variant
    6 235 235 Sequence variant
    6 237 237 Sequence variant
    6 241 241 Sequence variant
    6 241 241 Sequence variant
    6 244 244 Sequence variant
    6 251 251 Sequence variant
    6 252 252 Sequence variant
    7 255 255 Sequence variant
    7 270 270 Sequence variant
    7 276 276 Sequence variant
    7 290 290 Sequence variant
    7 294 294 Sequence variant
    7 296 296 Sequence variant
    7 298 298 Sequence variant
    7 303 303 Sequence variant
    7 304 304 Sequence variant
    7 305 305 Sequence variant
    7 310 310 Sequence variant
    7 310 310 Sequence variant
    7 324 324 Sequence variant
    7 324 324 Sequence variant
    7 328 328 Sequence variant
    8 342 342 Sequence variant
    8 343 343 Sequence variant
    8 348 348 Sequence variant
    8 350 350 Sequence variant
    8 351 351 Sequence variant
    8 352 352 Sequence variant
    8 354 354 Sequence variant
    8 357 357 Sequence variant
    8 362 362 Sequence variant
    8 363 363 Sequence variant
    8 364 364 Sequence variant
    8 365 365 Sequence variant
    8 368 368 Sequence variant
    8 380 380 Sequence variant
    8 381 381 Sequence variant
    8 388 388 Sequence variant
    8 391 391 Sequence variant
    8 392 392 Sequence variant
    8 392 392 Sequence variant
    8 398 398 Sequence variant
    8 400 400 Sequence variant
    8 402 402 Sequence variant
    8 403 403 Sequence variant
    8 405 405 Sequence variant
    8 405 405 Sequence variant
    8 408 408 Sequence variant
    9 409 409 Sequence variant
    9 410 410 Sequence variant
    9 414 414 Sequence variant
    9 416 416 Sequence variant
    9 417 417 Sequence variant
    9 419 419 Sequence variant
    9 419 419 Sequence variant
    9 419 419 Sequence variant
    9 421 421 Sequence variant
    9 426 426 Sequence variant
    9 428 428 Sequence variant
    9 429 429 Sequence variant
    9 430 430 Sequence variant
    9 431 431 Sequence variant
    9 432 432 Sequence variant
    9 433 433 Sequence variant
    9 435 435 Sequence variant
    9 436 436 Sequence variant
    9 437 437 Sequence variant
    9 437 437 Sequence variant
    9 438 438 Sequence variant
    9 438 438 Sequence variant
    9 440 440 Sequence variant
    9 441 441 Sequence variant
    9 441 441 Sequence variant
    9 448 448 Sequence variant
    9 448 448 Sequence variant
    9 450 450 Sequence variant
    9 451 451 Sequence variant
    9 452 452 Sequence variant
    9 454 454 Sequence variant
    9 455 455 Sequence variant
    9 456 456 Sequence variant
    9 457 457 Sequence variant
    9 460 460 Sequence variant
    10 464 464 Sequence variant
    10 483 483 Sequence variant
    10 483 483 Sequence variant
    10 485 485 Sequence variant
    10 490 490 Sequence variant
    10 495 495 Sequence variant
    10 500 500 Sequence variant
    10 501 501 Sequence variant
    10 502 502 Sequence variant
    10 502 502 Sequence variant
    11 509 509 Sequence variant
    11 513 513 Sequence variant
    11 517 517 Sequence variant
    11 530 530 Sequence variant
    11 535 535 Sequence variant
    11 535 535 Sequence variant
    3 43 43 Mutagenesis site
    3 57 57 Mutagenesis site
    3 62 62 Mutagenesis site
    8 379 379 Mutagenesis site
    6 227 227 Sequence conflict
    10 470 470 Sequence conflict
    11 534 534 Sequence conflict
    3 49 52 Strand
    3 54 60 Strand
    3 75 82 Strand
    3 88 94 Strand
    3 96 98 Strand
    3, 4 103 116 Strand
    4 119 123 Strand
    4 126 132 Helix
    4 137 148 Helix
    4, 5 150 153 Turn
    5 157 163 Strand
    5 166 170 Strand
    5 177 179 Strand
    5 190 193 Helix
    5, 6 196 206 Helix
    6 212 218 Strand
    6 222 224 Helix
    6 229 233 Strand
    6 235 238 Strand
    6, 7 243 261 Helix
    7 267 271 Strand
    7 277 279 Helix
    7 292 301 Helix
    7 303 308 Helix
    7 311 314 Turn
    7 315 323 Strand
    7 324 326 Helix
    7, 8 329 335 Helix
    8 338 341 Helix
    8 346 352 Strand
    8 359 369 Helix
    8 373 381 Strand
    8, 9 396 411 Helix
    9 414 422 Strand
    9 440 444 Strand
    9 445 447 Helix
    9 449 452 Strand
    9 454 463 Helix
    10 471 479 Strand
    10 482 489 Strand
    10 495 501 Strand
    11 503 505 Strand
    11 507 513 Strand
    11 514 516 Turn
    11 517 523 Strand
    11 527 533 Strand

  • Overview of mutations

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