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P16278

- BGAL_HUMAN

UniProt

P16278 - BGAL_HUMAN

Protein

Beta-galactosidase

Gene

GLB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 167 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
    Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers.

    Catalytic activityi

    Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei188 – 1881Proton donorSequence Analysis
    Active sitei268 – 2681NucleophileSequence Analysis

    GO - Molecular functioni

    1. beta-galactosidase activity Source: UniProtKB
    2. galactoside binding Source: Ensembl
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. galactose catabolic process Source: Ensembl
    3. glycosaminoglycan catabolic process Source: Reactome
    4. glycosaminoglycan metabolic process Source: Reactome
    5. glycosphingolipid metabolic process Source: Reactome
    6. keratan sulfate catabolic process Source: Reactome
    7. keratan sulfate metabolic process Source: Reactome
    8. small molecule metabolic process Source: Reactome
    9. sphingolipid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Enzyme and pathway databases

    ReactomeiREACT_116105. Glycosphingolipid metabolism.
    REACT_120752. HS-GAG degradation.
    REACT_121313. Keratan sulfate degradation.
    REACT_200874. Sialic acid metabolism.
    SABIO-RKP16278.

    Protein family/group databases

    CAZyiGH35. Glycoside Hydrolase Family 35.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-galactosidase (EC:3.2.1.23)
    Alternative name(s):
    Acid beta-galactosidase
    Short name:
    Lactase
    Elastin receptor 1
    Gene namesi
    Name:GLB1
    Synonyms:ELNR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:4298. GLB1.

    Subcellular locationi

    Isoform 2 : Cytoplasmperinuclear region
    Note: Localized to the perinuclear area of the cytoplasm but not to lysosomes.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. extracellular vesicular exosome Source: UniProt
    3. Golgi apparatus Source: HPA
    4. lysosomal lumen Source: Reactome
    5. perinuclear region of cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    GM1-gangliosidosis 1 (GM1G1) [MIM:230500]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.17 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101P → L in GM1G1. 8 Publications
    Corresponds to variant rs7637099 [ dbSNP | Ensembl ].
    VAR_008671
    Natural varianti49 – 491R → C in GM1G1. 1 Publication
    VAR_003329
    Natural varianti59 – 591R → C in GM1G1; protein enzymatically inactive; severe mutation. 3 Publications
    VAR_026129
    Natural varianti59 – 591R → H in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation. 7 Publications
    VAR_008672
    Natural varianti121 – 1211R → S in GM1G1. 1 Publication
    VAR_008675
    Natural varianti123 – 1231G → R in GM1G1. 1 Publication
    VAR_003331
    Natural varianti132 – 1321M → T in GM1G1; 4.3% of wild-type enzyme activity. 1 Publication
    VAR_062344
    Natural varianti134 – 1341G → V in GM1G1. 1 Publication
    VAR_037937
    Natural varianti136 – 1361P → S in GM1G1. 1 Publication
    VAR_062345
    Natural varianti147 – 1471Missing in GM1G1. 1 Publication
    VAR_037938
    Natural varianti148 – 1481R → S in GM1G1. 2 Publications
    VAR_013541
    Natural varianti151 – 1511D → V in GM1G1. 1 Publication
    VAR_062348
    Natural varianti151 – 1511D → Y in GM1G1; complete lack of protein; no enzymatic activity. 2 Publications
    VAR_026131
    Natural varianti162 – 1621L → S in GM1G1. 1 Publication
    VAR_037940
    Natural varianti173 – 1731L → P in GM1G1. 1 Publication
    VAR_062349
    Natural varianti184 – 1841Q → R in GM1G1; no enzymatic activity. 1 Publication
    VAR_062350
    Natural varianti190 – 1901G → D in GM1G1; 3.4% of wild-type enzyme activity. 1 Publication
    VAR_062351
    Natural varianti199 – 1991Y → C in GM1G1. 1 Publication
    VAR_062353
    Natural varianti201 – 2011R → C in GM1G1 and GM1G2; 8.4% of wild-type enzyme activity; activity severely reduced in transfection with the F-436 polymorphism. 5 Publications
    VAR_003332
    Natural varianti201 – 2011R → H in GM1G2; 36.2% of wild-type enzyme activity; also in GM1G1 and a patient with a slowly progressive GM1-gangliosidosis form. 7 Publications
    VAR_013542
    Natural varianti208 – 2081R → C in GM1G1. 4 Publications
    VAR_008676
    Natural varianti216 – 2161V → A in GM1G1. 1 Publication
    VAR_013544
    Natural varianti239 – 2391T → M in GM1G1; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor. 2 Publications
    VAR_026132
    Natural varianti240 – 2401V → M in GM1G1. 1 Publication
    VAR_008677
    Natural varianti255 – 2551Q → H in GM1G1; 2.4% of wild-type enzyme activity. 1 Publication
    VAR_062354
    Natural varianti272 – 2721G → D in GM1G1. 2 Publications
    VAR_038346
    Natural varianti281 – 2811H → Y in GM1G1 and GM1G3. 2 Publications
    VAR_013548
    Natural varianti316 – 3161Y → C in GM1G1. 1 Publication
    VAR_003334
    Natural varianti318 – 3181N → H in GM1G1; unknown pathological significance. 1 Publication
    VAR_062356
    Natural varianti329 – 3291T → I in GM1G1; 5.0% of wild-type enzyme activity. 1 Publication
    VAR_062357
    Natural varianti332 – 3321D → E in GM1G1; 2.3% of wild-type enzyme activity. 1 Publication
    VAR_062358
    Natural varianti332 – 3321D → N in GM1G1. 1 Publication
    VAR_013549
    Natural varianti346 – 3461K → N in GM1G1. 2 Publications
    VAR_062360
    Natural varianti347 – 3471Y → C in GM1G1. 1 Publication
    VAR_062361
    Natural varianti377 – 3815Missing in GM1G1.
    VAR_037941
    Natural varianti420 – 4201T → P in GM1G1. 1 Publication
    VAR_062364
    Natural varianti422 – 4221L → R in GM1G1. 1 Publication
    VAR_062365
    Natural varianti441 – 4411D → N in GM1G1. 1 Publication
    VAR_062366
    Natural varianti442 – 4421R → Q in GM1G1. 1 Publication
    VAR_062367
    Natural varianti482 – 4821R → H in MPS4B and GM1G1; loss of activity. 5 Publications
    VAR_003336
    Natural varianti491 – 4911D → N in GM1G1. 1 Publication
    VAR_008679
    Natural varianti491 – 4911D → Y in GM1G1. 1 Publication
    VAR_037943
    Natural varianti494 – 4941G → C in GM1G1. 1 Publication
    VAR_013553
    Natural varianti549 – 5491P → L in GM1G1. 1 Publication
    VAR_037944
    Natural varianti578 – 5781K → R in GM1G1. 1 Publication
    VAR_008682
    Natural varianti579 – 5791G → D in GM1G1 and GM1G2; protein enzymatically inactive; severe mutation. 2 Publications
    VAR_013555
    Natural varianti590 – 5901R → C in GM1G1. 2 Publications
    VAR_037946
    Natural varianti591 – 5911Y → C in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor. 3 Publications
    VAR_008684
    Natural varianti591 – 5911Y → N in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor. 3 Publications
    VAR_008685
    Natural varianti597 – 5971P → S in GM1G1; 2.1% of wild-type enzyme activity. 1 Publication
    VAR_062370
    GM1-gangliosidosis 2 (GM1G2) [MIM:230600]: A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681R → Q in GM1G2; 7.4% of wild-type enzyme activity. 1 Publication
    VAR_062341
    Natural varianti68 – 681R → W in GM1G2; no enzyme activity. 1 Publication
    VAR_026130
    Natural varianti155 – 1551L → R in GM1G2 and GM1G3; 6.7% of wild-type enzyme activity. 2 Publications
    VAR_037939
    Natural varianti201 – 2011R → C in GM1G1 and GM1G2; 8.4% of wild-type enzyme activity; activity severely reduced in transfection with the F-436 polymorphism. 5 Publications
    VAR_003332
    Natural varianti201 – 2011R → H in GM1G2; 36.2% of wild-type enzyme activity; also in GM1G1 and a patient with a slowly progressive GM1-gangliosidosis form. 7 Publications
    VAR_013542
    Natural varianti264 – 2641L → S in GM1G2. 1 Publication
    VAR_062355
    Natural varianti333 – 3331Y → H in GM1G2; 3.0% of wild-type enzyme activity; the mutant protein is localized in the lysosomal-endosomal compartment. 1 Publication
    VAR_062359
    Natural varianti579 – 5791G → D in GM1G1 and GM1G2; protein enzymatically inactive; severe mutation. 2 Publications
    VAR_013555
    Natural varianti590 – 5901R → H in GM1G2. 1 Publication
    VAR_008683
    Natural varianti632 – 6321E → G in GM1G2. 1 Publication
    VAR_008686
    GM1-gangliosidosis 3 (GM1G3) [MIM:230650]: A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491R → H in GM1G3. 1 Publication
    VAR_062340
    Natural varianti51 – 511I → T in GM1G3. 2 Publications
    VAR_003330
    Natural varianti73 – 731K → E in GM1G3. 1 Publication
    VAR_062342
    Natural varianti82 – 821T → M in GM1G3; mild phenotype. 3 Publications
    VAR_008673
    Natural varianti148 – 1481R → C in GM1G3. 1 Publication
    VAR_062346
    Natural varianti155 – 1551L → R in GM1G2 and GM1G3; 6.7% of wild-type enzyme activity. 2 Publications
    VAR_037939
    Natural varianti214 – 2141D → Y in GM1G3. 1 Publication
    VAR_013543
    Natural varianti263 – 2631P → S in GM1G3. 1 Publication
    VAR_013545
    Natural varianti266 – 2661N → S in GM1G3. 1 Publication
    VAR_013546
    Natural varianti270 – 2701Y → D in GM1G3; originally classified as Morquio syndrome. 2 Publications
    VAR_013547
    Natural varianti281 – 2811H → Y in GM1G1 and GM1G3. 2 Publications
    VAR_013548
    Natural varianti420 – 4201T → K in GM1G3. 1 Publication
    VAR_062363
    Natural varianti438 – 4381G → E in GM1G3 and MPS4B; mild form; 5.7% of activity. 3 Publications
    VAR_013551
    Natural varianti457 – 4571R → Q in GM1G3. 1 Publication
    VAR_003335
    Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti83 – 831Y → C in MPS4B. 1 Publication
    VAR_062343
    Natural varianti83 – 831Y → H in MPS4B; 2-5% of activity. 1 Publication
    VAR_008674
    Natural varianti149 – 1491S → F in MPS4B; 2.0% of wild-type enzyme activity. 1 Publication
    VAR_062347
    Natural varianti198 – 1981D → Y in MPS4B; 17.4% of wild-type enzyme activity. 1 Publication
    VAR_062352
    Natural varianti273 – 2731W → L in MPS4B; 8% of activity. 4 Publications
    VAR_003333
    Natural varianti397 – 3971P → A in MPS4B; 24.0% of wild-type enzyme activity. 1 Publication
    VAR_062362
    Natural varianti408 – 4081Q → P in MPS4B; 1.1% of wild-type enzyme activity. 2 Publications
    VAR_013550
    Natural varianti438 – 4381G → E in GM1G3 and MPS4B; mild form; 5.7% of activity. 3 Publications
    VAR_013551
    Natural varianti444 – 4441Y → C in MPS4B. 1 Publication
    VAR_062368
    Natural varianti482 – 4821R → C in MPS4B; loss of activity. 1 Publication
    VAR_008678
    Natural varianti482 – 4821R → H in MPS4B and GM1G1; loss of activity. 5 Publications
    VAR_003336
    Natural varianti484 – 4841N → K in MPS4B; mild form; 1.9% of activity. 1 Publication
    VAR_013552
    Natural varianti494 – 4941G → S in MPS4B. 1 Publication
    VAR_062369
    Natural varianti500 – 5001T → A in MPS4B; mild form; 2.1% of activity. 4 Publications
    VAR_013554
    Natural varianti509 – 5091W → C in MPS4B; also in a patient with a slowly progressive form of GM1-gangisidosis; loss of activity. 3 Publications
    VAR_003337

    Keywords - Diseasei

    Disease mutation, Gangliosidosis, Mucopolysaccharidosis

    Organism-specific databases

    MIMi230500. phenotype.
    230600. phenotype.
    230650. phenotype.
    253010. phenotype.
    Orphaneti79255. GM1 gangliosidosis type 1.
    79256. GM1 gangliosidosis type 2.
    79257. GM1 gangliosidosis type 3.
    309310. Mucopolysaccharidosis type 4B.
    PharmGKBiPA28709.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Add
    BLAST
    Propeptidei24 – 285PRO_0000012185
    Chaini29 – 677649Beta-galactosidasePRO_0000012186Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi26 – 261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi247 – 2471N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi464 – 4641N-linked (GlcNAc...)2 Publications
    Glycosylationi498 – 4981N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi542 – 5421N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi555 – 5551N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein, Zymogen

    Proteomic databases

    MaxQBiP16278.
    PaxDbiP16278.
    PRIDEiP16278.

    PTM databases

    PhosphoSiteiP16278.

    Expressioni

    Gene expression databases

    ArrayExpressiP16278.
    BgeeiP16278.
    CleanExiHS_GLB1.
    GenevestigatoriP16278.

    Organism-specific databases

    HPAiCAB008382.
    HPA040610.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CTNNBIP1Q9NSA31EBI-989638,EBI-747082
    NEU1Q995191EBI-989638,EBI-721517

    Protein-protein interaction databases

    BioGridi108984. 12 interactions.
    IntActiP16278. 9 interactions.
    MINTiMINT-3008481.
    STRINGi9606.ENSP00000306920.

    Structurei

    Secondary structure

    1
    677
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi32 – 354
    Turni36 – 394
    Beta strandi40 – 434
    Beta strandi46 – 483
    Beta strandi51 – 544
    Helixi57 – 593
    Helixi62 – 643
    Helixi65 – 7410
    Beta strandi78 – 836
    Helixi86 – 894
    Helixi100 – 1023
    Helixi104 – 11310
    Beta strandi117 – 1215
    Helixi131 – 1344
    Helixi137 – 1415
    Beta strandi147 – 1493
    Helixi152 – 16918
    Helixi170 – 1723
    Helixi174 – 1763
    Beta strandi178 – 1847
    Beta strandi186 – 1883
    Helixi189 – 1913
    Helixi197 – 21115
    Beta strandi213 – 22412
    Helixi225 – 2317
    Beta strandi236 – 2416
    Helixi248 – 25811
    Beta strandi260 – 2623
    Beta strandi265 – 2728
    Helixi286 – 29813
    Beta strandi302 – 3065
    Turni322 – 3243
    Helixi345 – 35410
    Turni355 – 3573
    Beta strandi375 – 3784
    Beta strandi380 – 3845
    Turni385 – 3884
    Helixi389 – 3924
    Beta strandi398 – 4025
    Helixi407 – 4093
    Beta strandi413 – 4219
    Beta strandi426 – 4338
    Beta strandi439 – 4479
    Beta strandi450 – 4567
    Turni457 – 4593
    Beta strandi462 – 4676
    Beta strandi472 – 4787
    Helixi487 – 4893
    Beta strandi509 – 5135
    Helixi516 – 5216
    Turni522 – 5276
    Beta strandi550 – 5567
    Beta strandi568 – 5725
    Beta strandi578 – 5836
    Beta strandi586 – 5916
    Turni593 – 5953
    Beta strandi601 – 6033
    Helixi605 – 6073
    Beta strandi610 – 6123
    Beta strandi614 – 6229
    Beta strandi627 – 6293
    Helixi631 – 6333
    Beta strandi634 – 6418

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3THCX-ray1.80A/B/C/D24-677[»]
    3THDX-ray1.79A/B/C/D24-677[»]
    3WEZX-ray2.11A/B/C/D24-677[»]
    3WF0X-ray2.20A/B/C/D24-677[»]
    3WF1X-ray2.00A/B/C/D24-677[»]
    3WF2X-ray2.30A/B/C/D24-677[»]
    3WF3X-ray2.15A/B/C/D24-677[»]
    3WF4X-ray2.30A/B/C/D24-677[»]
    ProteinModelPortaliP16278.
    SMRiP16278. Positions 29-647.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 35 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG1874.
    HOGENOMiHOG000221607.
    HOVERGENiHBG004841.
    InParanoidiP16278.
    KOiK12309.
    OrthoDBiEOG7GXPCD.
    PhylomeDBiP16278.
    TreeFamiTF314816.

    Family and domain databases

    Gene3Di2.60.120.260. 1 hit.
    3.20.20.80. 1 hit.
    InterProiIPR026283. B-gal_1-like.
    IPR008979. Galactose-bd-like.
    IPR019801. Glyco_hydro_35_CS.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR001944. Glycoside_Hdrlase_35.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view]
    PANTHERiPTHR23421. PTHR23421. 1 hit.
    PfamiPF01301. Glyco_hydro_35. 1 hit.
    [Graphical view]
    PIRSFiPIRSF006336. B-gal. 1 hit.
    PRINTSiPR00742. GLHYDRLASE35.
    SUPFAMiSSF49785. SSF49785. 2 hits.
    SSF51445. SSF51445. 1 hit.
    PROSITEiPS01182. GLYCOSYL_HYDROL_F35. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P16278-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY    50
    ISGSIHYSRV PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE 100
    DHDVEYFLRL AHELGLLVIL RPGPYICAEW EMGGLPAWLL EKESILLRSS 150
    DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV ITVQVENEYG SYFACDFDYL 200
    RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV DFGTGSNITD 250
    AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG 300
    ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL 350
    RNIIQKFEKV PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS 400
    LYPLTFIQVK QHYGFVLYRT TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI 450
    PQGVLERNNV ITLNITGKAG ATLDLLVENM GRVNYGAYIN DFKGLVSNLT 500
    LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA HNSSNYTLPA 550
    FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT 600
    LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY 650
    DHPSKPVEKR LMPPPPQKNK DSWLDHV 677
    Length:677
    Mass (Da):76,075
    Last modified:November 25, 2008 - v2
    Checksum:i74421586B1BCFECA
    GO
    Isoform 2 (identifier: P16278-2) [UniParc] [UniParc]FASTAAdd to Basket

    Also known as: Beta-galactosidase-related protein, Beta-galactosidase-like protein, S-Gal, Elastin-binding protein, EBP

    The sequence of this isoform differs from the canonical sequence as follows:
         83-244: YVPWNFHEPW...GLYTTVDFGT → LPGSCGQVVGSPSAQDEASPLSEWRASYNSA

    Show »
    Length:546
    Mass (Da):60,536
    Checksum:i2EC2BBA4F39E966C
    GO
    Isoform 3 (identifier: P16278-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-30: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:647
    Mass (Da):72,751
    Checksum:i1D57AD9A29CF9DA6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 891H → Y in BAH13196. (PubMed:14702039)Curated
    Sequence conflicti201 – 2011R → A in AAA51822. (PubMed:3143362)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101P → L in GM1G1. 8 Publications
    Corresponds to variant rs7637099 [ dbSNP | Ensembl ].
    VAR_008671
    Natural varianti49 – 491R → C in GM1G1. 1 Publication
    VAR_003329
    Natural varianti49 – 491R → H in GM1G3. 1 Publication
    VAR_062340
    Natural varianti51 – 511I → T in GM1G3. 2 Publications
    VAR_003330
    Natural varianti59 – 591R → C in GM1G1; protein enzymatically inactive; severe mutation. 3 Publications
    VAR_026129
    Natural varianti59 – 591R → H in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation. 7 Publications
    VAR_008672
    Natural varianti68 – 681R → Q in GM1G2; 7.4% of wild-type enzyme activity. 1 Publication
    VAR_062341
    Natural varianti68 – 681R → W in GM1G2; no enzyme activity. 1 Publication
    VAR_026130
    Natural varianti73 – 731K → E in GM1G3. 1 Publication
    VAR_062342
    Natural varianti82 – 821T → M in GM1G3; mild phenotype. 3 Publications
    VAR_008673
    Natural varianti83 – 831Y → C in MPS4B. 1 Publication
    VAR_062343
    Natural varianti83 – 831Y → H in MPS4B; 2-5% of activity. 1 Publication
    VAR_008674
    Natural varianti109 – 1091R → W.
    Corresponds to variant rs35289681 [ dbSNP | Ensembl ].
    VAR_053875
    Natural varianti121 – 1211R → S in GM1G1. 1 Publication
    VAR_008675
    Natural varianti123 – 1231G → R in GM1G1. 1 Publication
    VAR_003331
    Natural varianti132 – 1321M → T in GM1G1; 4.3% of wild-type enzyme activity. 1 Publication
    VAR_062344
    Natural varianti134 – 1341G → V in GM1G1. 1 Publication
    VAR_037937
    Natural varianti136 – 1361P → S in GM1G1. 1 Publication
    VAR_062345
    Natural varianti147 – 1471Missing in GM1G1. 1 Publication
    VAR_037938
    Natural varianti148 – 1481R → C in GM1G3. 1 Publication
    VAR_062346
    Natural varianti148 – 1481R → S in GM1G1. 2 Publications
    VAR_013541
    Natural varianti149 – 1491S → F in MPS4B; 2.0% of wild-type enzyme activity. 1 Publication
    VAR_062347
    Natural varianti151 – 1511D → V in GM1G1. 1 Publication
    VAR_062348
    Natural varianti151 – 1511D → Y in GM1G1; complete lack of protein; no enzymatic activity. 2 Publications
    VAR_026131
    Natural varianti155 – 1551L → R in GM1G2 and GM1G3; 6.7% of wild-type enzyme activity. 2 Publications
    VAR_037939
    Natural varianti162 – 1621L → S in GM1G1. 1 Publication
    VAR_037940
    Natural varianti173 – 1731L → P in GM1G1. 1 Publication
    VAR_062349
    Natural varianti184 – 1841Q → R in GM1G1; no enzymatic activity. 1 Publication
    VAR_062350
    Natural varianti190 – 1901G → D in GM1G1; 3.4% of wild-type enzyme activity. 1 Publication
    VAR_062351
    Natural varianti198 – 1981D → Y in MPS4B; 17.4% of wild-type enzyme activity. 1 Publication
    VAR_062352
    Natural varianti199 – 1991Y → C in GM1G1. 1 Publication
    VAR_062353
    Natural varianti201 – 2011R → C in GM1G1 and GM1G2; 8.4% of wild-type enzyme activity; activity severely reduced in transfection with the F-436 polymorphism. 5 Publications
    VAR_003332
    Natural varianti201 – 2011R → H in GM1G2; 36.2% of wild-type enzyme activity; also in GM1G1 and a patient with a slowly progressive GM1-gangliosidosis form. 7 Publications
    VAR_013542
    Natural varianti208 – 2081R → C in GM1G1. 4 Publications
    VAR_008676
    Natural varianti214 – 2141D → Y in GM1G3. 1 Publication
    VAR_013543
    Natural varianti216 – 2161V → A in GM1G1. 1 Publication
    VAR_013544
    Natural varianti239 – 2391T → M in GM1G1; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor. 2 Publications
    VAR_026132
    Natural varianti240 – 2401V → M in GM1G1. 1 Publication
    VAR_008677
    Natural varianti255 – 2551Q → H in GM1G1; 2.4% of wild-type enzyme activity. 1 Publication
    VAR_062354
    Natural varianti263 – 2631P → S in GM1G3. 1 Publication
    VAR_013545
    Natural varianti264 – 2641L → S in GM1G2. 1 Publication
    VAR_062355
    Natural varianti266 – 2661N → S in GM1G3. 1 Publication
    VAR_013546
    Natural varianti270 – 2701Y → D in GM1G3; originally classified as Morquio syndrome. 2 Publications
    VAR_013547
    Natural varianti272 – 2721G → D in GM1G1. 2 Publications
    VAR_038346
    Natural varianti273 – 2731W → L in MPS4B; 8% of activity. 4 Publications
    VAR_003333
    Natural varianti281 – 2811H → Y in GM1G1 and GM1G3. 2 Publications
    VAR_013548
    Natural varianti316 – 3161Y → C in GM1G1. 1 Publication
    VAR_003334
    Natural varianti318 – 3181N → H in GM1G1; unknown pathological significance. 1 Publication
    VAR_062356
    Natural varianti329 – 3291T → I in GM1G1; 5.0% of wild-type enzyme activity. 1 Publication
    VAR_062357
    Natural varianti332 – 3321D → E in GM1G1; 2.3% of wild-type enzyme activity. 1 Publication
    VAR_062358
    Natural varianti332 – 3321D → N in GM1G1. 1 Publication
    VAR_013549
    Natural varianti333 – 3331Y → H in GM1G2; 3.0% of wild-type enzyme activity; the mutant protein is localized in the lysosomal-endosomal compartment. 1 Publication
    VAR_062359
    Natural varianti346 – 3461K → N in GM1G1. 2 Publications
    VAR_062360
    Natural varianti347 – 3471Y → C in GM1G1. 1 Publication
    VAR_062361
    Natural varianti377 – 3815Missing in GM1G1.
    VAR_037941
    Natural varianti397 – 3971P → A in MPS4B; 24.0% of wild-type enzyme activity. 1 Publication
    VAR_062362
    Natural varianti408 – 4081Q → P in MPS4B; 1.1% of wild-type enzyme activity. 2 Publications
    VAR_013550
    Natural varianti420 – 4201T → K in GM1G3. 1 Publication
    VAR_062363
    Natural varianti420 – 4201T → P in GM1G1. 1 Publication
    VAR_062364
    Natural varianti422 – 4221L → R in GM1G1. 1 Publication
    VAR_062365
    Natural varianti434 – 4341S → L in GM1-gangliosidosis; unclassified clinical type. 1 Publication
    VAR_037942
    Natural varianti436 – 4361L → F Seems to have a modulating action in the expression of the severity of other mutations. 2 Publications
    Corresponds to variant rs34421970 [ dbSNP | Ensembl ].
    VAR_026133
    Natural varianti438 – 4381G → E in GM1G3 and MPS4B; mild form; 5.7% of activity. 3 Publications
    VAR_013551
    Natural varianti441 – 4411D → N in GM1G1. 1 Publication
    VAR_062366
    Natural varianti442 – 4421R → Q in GM1G1. 1 Publication
    VAR_062367
    Natural varianti444 – 4441Y → C in MPS4B. 1 Publication
    VAR_062368
    Natural varianti457 – 4571R → Q in GM1G3. 1 Publication
    VAR_003335
    Natural varianti482 – 4821R → C in MPS4B; loss of activity. 1 Publication