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Protein

Beta-galactosidase

Gene

GLB1

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

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)DescriptionActionsGraphical viewLength
Active sitei188Proton donorSequence analysis1
Active sitei268NucleophileSequence analysis1

GO - Molecular functioni

  • beta-galactosidase activity Source: UniProtKB
  • exo-alpha-sialidase activity Source: Reactome
  • galactoside binding Source: Ensembl

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS10092-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-2022857. Keratan sulfate degradation.
R-HSA-2024096. HS-GAG degradation.
R-HSA-4085001. Sialic acid metabolism.
R-HSA-6798695. Neutrophil degranulation.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:4298. GLB1.

Subcellular locationi

Isoform 2 :

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Lysosome

Pathology & Biotechi

Involvement in diseasei

GM1-gangliosidosis 1 (GM1G1)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:230500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00867110P → L in GM1G1. 8 PublicationsCorresponds to variant rs7637099dbSNPEnsembl.1
Natural variantiVAR_00332949R → C in GM1G1 and GM1G2; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_02612959R → C in GM1G1; loss of galactosidase activity; severe mutation. 3 Publications1
Natural variantiVAR_00867259R → H in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation. 8 Publications1
Natural variantiVAR_02613068R → W in GM1G2 and GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_008675121R → S in GM1G1. 1 Publication1
Natural variantiVAR_003331123G → R in GM1G1; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_062344132M → T in GM1G1; 4.3% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_037937134G → V in GM1G1. 1 Publication1
Natural variantiVAR_062345136P → S in GM1G1. 1 Publication1
Natural variantiVAR_037938147Missing in GM1G1. 1 Publication1
Natural variantiVAR_013541148R → S in GM1G1. 2 Publications1
Natural variantiVAR_062348151D → V in GM1G1. 1 Publication1
Natural variantiVAR_026131151D → Y in GM1G1; complete lack of protein; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_037940162L → S in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062349173L → P in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062350184Q → R in GM1G1; loss of galactosidase activity. 1 Publication1
Natural variantiVAR_062351190G → D in GM1G1; 3.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062353199Y → C in GM1G1. 1 Publication1
Natural variantiVAR_003332201R → C in GM1G1 and GM1G2; 8.4% of wild-type galactosidase activity; activity severely reduced in transfection with the F-436 polymorphism. 5 Publications1
Natural variantiVAR_013542201R → H in GM1G1 and GM1G2; also in a patient with a slowly progressive GM1-gangliosidosis form; 36.2% of wild-type galactosidase activity. 8 Publications1
Natural variantiVAR_008676208R → C in GM1G1. 4 Publications1
Natural variantiVAR_013544216V → A in GM1G1. 1 Publication1
Natural variantiVAR_074056236L → P in GM1G1; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_026132239T → M in GM1G1; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor. 2 Publications1
Natural variantiVAR_008677240V → M in GM1G1. 1 Publication1
Natural variantiVAR_062354255Q → H in GM1G1; 2.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_038346272G → D in GM1G1. 2 Publications1
Natural variantiVAR_013548281H → Y in GM1G1 and GM1G3. 2 Publications1
Natural variantiVAR_003334316Y → C in GM1G1. 1 Publication1
Natural variantiVAR_062356318N → H in GM1G1; unknown pathological significance. 1 Publication1
Natural variantiVAR_062357329T → I in GM1G1; 5.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_074060331Y → C in GM1G1; unknown pathological significance. 1 Publication1
Natural variantiVAR_062358332D → E in GM1G1; 2.3% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_013549332D → N in GM1G1; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_074061337L → P in GM1G1 and GM1G2; loss of galactosidase activity. 1 Publication1
Natural variantiVAR_062360346K → N in GM1G1. 2 Publications1
Natural variantiVAR_062361347Y → C in GM1G1. 1 Publication1
Natural variantiVAR_037941377 – 381Missing in GM1G1. 1 Publication5
Natural variantiVAR_062364420T → P in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062365422L → R in GM1G1. 1 Publication1
Natural variantiVAR_062366441D → N in GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_062367442R → Q in GM1G1. 1 Publication1
Natural variantiVAR_003336482R → H in MPS4B and GM1G1; severe decrease in galactosidase activity. 6 Publications1
Natural variantiVAR_008679491D → N in GM1G1. 1 Publication1
Natural variantiVAR_037943491D → Y in GM1G1. 1 Publication1
Natural variantiVAR_013553494G → C in GM1G1. 1 Publication1
Natural variantiVAR_074064514L → P in GM1G1; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_008680521R → C in GM1G1; mild phenotype; unknown pathological significance; reduction of galactosidase activity. 6 PublicationsCorresponds to variant rs4302331dbSNPEnsembl.1
Natural variantiVAR_037944549P → L in GM1G1. 1 Publication1
Natural variantiVAR_008682578K → R in GM1G1. 1 Publication1
Natural variantiVAR_013555579G → D in GM1G1 and GM1G2; loss of galactosidase activity; severe mutation. 2 Publications1
Natural variantiVAR_037946590R → C in GM1G1; loss of galactosidase activity. 3 Publications1
Natural variantiVAR_008684591Y → C in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor. 3 Publications1
Natural variantiVAR_008685591Y → N in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation; causes a rapid degradation of the protein precursor. 3 Publications1
Natural variantiVAR_062370597P → S in GM1G1; 2.1% of wild-type galactosidase activity. 1 Publication1
GM1-gangliosidosis 2 (GM1G2)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:230600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00332949R → C in GM1G1 and GM1G2; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_06234168R → Q in GM1G2; 7.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_02613068R → W in GM1G2 and GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_074055134G → R in GM1G2; unknown pathological significance. 1 Publication1
Natural variantiVAR_062346148R → C in GM1G3 and GM1G2. 2 Publications1
Natural variantiVAR_037939155L → R in GM1G2 and GM1G3; 6.7% of wild-type galactosidase activity. 2 Publications1
Natural variantiVAR_003332201R → C in GM1G1 and GM1G2; 8.4% of wild-type galactosidase activity; activity severely reduced in transfection with the F-436 polymorphism. 5 Publications1
Natural variantiVAR_013542201R → H in GM1G1 and GM1G2; also in a patient with a slowly progressive GM1-gangliosidosis form; 36.2% of wild-type galactosidase activity. 8 Publications1
Natural variantiVAR_074057262G → E in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_062355264L → S in GM1G2. 1 Publication1
Natural variantiVAR_074059314F → L in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_062359333Y → H in GM1G2; 3.0% of wild-type galactosidase activity; the mutant protein is localized in the lysosomal-endosomal compartment. 1 Publication1
Natural variantiVAR_074061337L → P in GM1G1 and GM1G2; loss of galactosidase activity. 1 Publication1
Natural variantiVAR_074062414G → V in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_074063493K → N in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_013555579G → D in GM1G1 and GM1G2; loss of galactosidase activity; severe mutation. 2 Publications1
Natural variantiVAR_008683590R → H in GM1G2. 1 Publication1
Natural variantiVAR_074065597P → L in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_074066600T → I in GM1G2; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_008686632E → G in GM1G2. 1 Publication1
GM1-gangliosidosis 3 (GM1G3)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:230650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06234049R → H in GM1G3. 1 Publication1
Natural variantiVAR_00333051I → T in GM1G3. 2 Publications1
Natural variantiVAR_06234273K → E in GM1G3. 1 Publication1
Natural variantiVAR_00867382T → M in GM1G3; mild phenotype. 3 Publications1
Natural variantiVAR_062346148R → C in GM1G3 and GM1G2. 2 Publications1
Natural variantiVAR_037939155L → R in GM1G2 and GM1G3; 6.7% of wild-type galactosidase activity. 2 Publications1
Natural variantiVAR_013543214D → Y in GM1G3. 1 Publication1
Natural variantiVAR_013545263P → S in GM1G3. 1 Publication1
Natural variantiVAR_013546266N → S in GM1G3. 1 Publication1
Natural variantiVAR_013547270Y → D in GM1G3; originally classified as Morquio syndrome. 2 Publications1
Natural variantiVAR_013548281H → Y in GM1G1 and GM1G3. 2 Publications1
Natural variantiVAR_074058297L → F in GM1G3; decrease in galactosidase activity. 1 Publication1
Natural variantiVAR_062363420T → K in GM1G3; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_013551438G → E in GM1G3 and MPS4B; mild form; 5.7% of wild-type galactosidase activity. 3 Publications1
Natural variantiVAR_003335457R → Q in GM1G3. 1 Publication1
Mucopolysaccharidosis 4B (MPS4B)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:253010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06234383Y → C in MPS4B; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_00867483Y → H in MPS4B; 2-5% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062347149S → F in MPS4B; 2.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062352198D → Y in MPS4B; 17.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_003333273W → L in MPS4B; decreased galactosidase activity. 4 Publications1
Natural variantiVAR_062362397P → A in MPS4B; 24.0% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_013550408Q → P in MPS4B; 1.1% of wild-type galactosidase activity. 2 Publications1
Natural variantiVAR_013551438G → E in GM1G3 and MPS4B; mild form; 5.7% of wild-type galactosidase activity. 3 Publications1
Natural variantiVAR_062368444Y → C in MPS4B; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_008678482R → C in MPS4B; loss of galactosidase activity. 1 Publication1
Natural variantiVAR_003336482R → H in MPS4B and GM1G1; severe decrease in galactosidase activity. 6 Publications1
Natural variantiVAR_013552484N → K in MPS4B; mild form; fibroblasts from MPS4B compound heterozygotes for K-484 and A-500 have 1.9% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_062369494G → S in MPS4B; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_013554500T → A in MPS4B; mild form; 2.1% of wild-type galactosidase activity. 4 Publications1
Natural variantiVAR_003337509W → C in MPS4B; also in a patient with a slowly progressive form of GM1-gangisidosis; loss of galactosidase activity. 3 Publications1

Keywords - Diseasei

Disease mutation, Gangliosidosis, Mucopolysaccharidosis

Organism-specific databases

DisGeNETi2720.
MalaCardsiGLB1.
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.

Chemistry databases

ChEMBLiCHEMBL2522.

Polymorphism and mutation databases

BioMutaiGLB1.
DMDMi215273939.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Add BLAST23
PropeptideiPRO_000001218524 – 285
ChainiPRO_000001218629 – 677Beta-galactosidaseAdd BLAST649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi26N-linked (GlcNAc...)Sequence analysis1
Glycosylationi247N-linked (GlcNAc...)Sequence analysis1
Glycosylationi464N-linked (GlcNAc...)2 Publications1
Glycosylationi498N-linked (GlcNAc...)Sequence analysis1
Glycosylationi542N-linked (GlcNAc...)Sequence analysis1
Glycosylationi545N-linked (GlcNAc...)Sequence analysis1
Glycosylationi555N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Glycoprotein, Zymogen

Proteomic databases

EPDiP16278.
MaxQBiP16278.
PaxDbiP16278.
PeptideAtlasiP16278.
PRIDEiP16278.

PTM databases

iPTMnetiP16278.
PhosphoSitePlusiP16278.
SwissPalmiP16278.

Expressioni

Gene expression databases

BgeeiENSG00000170266.
CleanExiHS_GLB1.
ExpressionAtlasiP16278. baseline and differential.
GenevisibleiP16278. HS.

Organism-specific databases

HPAiCAB008382.
HPA040610.
HPA069503.

Interactioni

Protein-protein interaction databases

BioGridi108984. 39 interactors.
IntActiP16278. 14 interactors.
MINTiMINT-3008481.
STRINGi9606.ENSP00000306920.

Chemistry databases

BindingDBiP16278.

Structurei

Secondary structure

1677
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi32 – 35Combined sources4
Turni36 – 39Combined sources4
Beta strandi40 – 43Combined sources4
Beta strandi46 – 48Combined sources3
Beta strandi51 – 54Combined sources4
Helixi57 – 59Combined sources3
Helixi62 – 64Combined sources3
Helixi65 – 74Combined sources10
Beta strandi78 – 83Combined sources6
Helixi86 – 89Combined sources4
Helixi100 – 102Combined sources3
Helixi104 – 113Combined sources10
Beta strandi117 – 121Combined sources5
Helixi131 – 134Combined sources4
Helixi137 – 141Combined sources5
Beta strandi147 – 149Combined sources3
Helixi152 – 169Combined sources18
Helixi170 – 172Combined sources3
Helixi174 – 176Combined sources3
Beta strandi178 – 184Combined sources7
Beta strandi186 – 188Combined sources3
Helixi189 – 191Combined sources3
Helixi197 – 211Combined sources15
Beta strandi213 – 224Combined sources12
Helixi225 – 231Combined sources7
Beta strandi236 – 241Combined sources6
Helixi248 – 258Combined sources11
Beta strandi260 – 262Combined sources3
Beta strandi265 – 272Combined sources8
Helixi286 – 298Combined sources13
Beta strandi302 – 306Combined sources5
Turni322 – 324Combined sources3
Helixi345 – 354Combined sources10
Turni355 – 357Combined sources3
Beta strandi375 – 378Combined sources4
Beta strandi380 – 384Combined sources5
Turni385 – 388Combined sources4
Helixi389 – 392Combined sources4
Beta strandi398 – 402Combined sources5
Helixi407 – 409Combined sources3
Beta strandi413 – 421Combined sources9
Beta strandi426 – 433Combined sources8
Beta strandi439 – 447Combined sources9
Beta strandi450 – 456Combined sources7
Turni457 – 459Combined sources3
Beta strandi462 – 467Combined sources6
Beta strandi472 – 478Combined sources7
Helixi487 – 489Combined sources3
Beta strandi509 – 513Combined sources5
Helixi516 – 521Combined sources6
Turni522 – 527Combined sources6
Beta strandi550 – 556Combined sources7
Beta strandi568 – 572Combined sources5
Beta strandi578 – 583Combined sources6
Beta strandi586 – 591Combined sources6
Turni593 – 595Combined sources3
Beta strandi601 – 603Combined sources3
Helixi605 – 607Combined sources3
Beta strandi610 – 612Combined sources3
Beta strandi614 – 622Combined sources9
Beta strandi627 – 629Combined sources3
Helixi631 – 633Combined sources3
Beta strandi634 – 641Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 35 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG0496. Eukaryota.
COG1874. LUCA.
HOGENOMiHOG000221607.
HOVERGENiHBG004841.
InParanoidiP16278.
KOiK12309.
OrthoDBiEOG091G006X.
PhylomeDBiP16278.
TreeFamiTF314816.

Family and domain databases

Gene3Di2.60.120.260. 1 hit.
3.20.20.80. 1 hit.
InterProiIPR026283. B-gal_1-like.
IPR025300. BetaGal_jelly_roll_dom.
IPR008979. Galactose-bd-like.
IPR031330. Gly_Hdrlase_35_cat.
IPR019801. Glyco_hydro_35_CS.
IPR013781. Glyco_hydro_catalytic_dom.
IPR001944. Glycoside_Hdrlase_35.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR23421. PTHR23421. 1 hit.
PfamiPF13364. BetaGal_dom4_5. 1 hit.
PF01301. 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. AlignAdd to basket

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

        10         20         30         40         50
MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY
60 70 80 90 100
ISGSIHYSRV PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE
110 120 130 140 150
DHDVEYFLRL AHELGLLVIL RPGPYICAEW EMGGLPAWLL EKESILLRSS
160 170 180 190 200
DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV ITVQVENEYG SYFACDFDYL
210 220 230 240 250
RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV DFGTGSNITD
260 270 280 290 300
AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG
310 320 330 340 350
ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL
360 370 380 390 400
RNIIQKFEKV PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS
410 420 430 440 450
LYPLTFIQVK QHYGFVLYRT TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI
460 470 480 490 500
PQGVLERNNV ITLNITGKAG ATLDLLVENM GRVNYGAYIN DFKGLVSNLT
510 520 530 540 550
LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA HNSSNYTLPA
560 570 580 590 600
FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT
610 620 630 640 650
LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY
660 670
DHPSKPVEKR LMPPPPQKNK DSWLDHV
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)DescriptionActionsGraphical viewLength
Sequence conflicti89H → Y in BAH13196 (PubMed:14702039).Curated1
Sequence conflicti201R → A in AAA51822 (PubMed:3143362).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00867110P → L in GM1G1. 8 PublicationsCorresponds to variant rs7637099dbSNPEnsembl.1
Natural variantiVAR_00332949R → C in GM1G1 and GM1G2; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_06234049R → H in GM1G3. 1 Publication1
Natural variantiVAR_00333051I → T in GM1G3. 2 Publications1
Natural variantiVAR_02612959R → C in GM1G1; loss of galactosidase activity; severe mutation. 3 Publications1
Natural variantiVAR_00867259R → H in GM1G1; with cardiac involvement in some patients; loss of galactosidase activity; severe mutation. 8 Publications1
Natural variantiVAR_06234168R → Q in GM1G2; 7.4% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_02613068R → W in GM1G2 and GM1G1; loss of galactosidase activity. 2 Publications1
Natural variantiVAR_06234273K → E in GM1G3. 1 Publication1
Natural variantiVAR_00867382T → M in GM1G3; mild phenotype. 3 Publications1
Natural variantiVAR_06234383Y → C in MPS4B; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_00867483Y → H in MPS4B; 2-5% of wild-type galactosidase activity. 1 Publication1
Natural variantiVAR_053875109R → W.Corresponds to variant rs35289681dbSNPEnsembl.1
Natural variantiVAR_008675121R → S in GM1G1. 1 Publication1
Natural variantiVAR_003331123G → R in GM1G1; decrease in galactosidase activity. 2 Publications1
Natural variantiVAR_074054129E → Q.1 Publication