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P16278

- BGAL_HUMAN

UniProt

P16278 - BGAL_HUMAN

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Protein

Beta-galactosidase

Gene
GLB1, ELNR1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.1 Publication
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.1 Publication

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 donor Reviewed prediction
Active sitei268 – 2681Nucleophile Reviewed prediction

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.17 Publications
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. 5 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.10 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
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...) Reviewed prediction
Glycosylationi247 – 2471N-linked (GlcNAc...) Reviewed prediction
Glycosylationi464 – 4641N-linked (GlcNAc...)2 Publications
Glycosylationi498 – 4981N-linked (GlcNAc...) Reviewed prediction
Glycosylationi542 – 5421N-linked (GlcNAc...) Reviewed prediction
Glycosylationi545 – 5451N-linked (GlcNAc...) Reviewed prediction
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.

Family & Domainsi

Sequence similaritiesi

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

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. 5 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
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 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 varianti494 – 4941G → S in MPS4B. 1 Publication
VAR_062369
Natural varianti500 – 5001T → A in MPS4B; mild form; 2.1% of activity. 4 Publications