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P16278

- BGAL_HUMAN

UniProt

P16278 - BGAL_HUMAN

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Protein

Beta-galactosidase

Gene

GLB1

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.
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

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, UP000005640: Unplaced

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: UniProtKB
  3. Golgi apparatus Source: HPA
  4. lysosomal lumen Source: Reactome
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.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. 1 Publication
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

BgeeiP16278.
CleanExiHS_GLB1.
ExpressionAtlasiP16278. baseline and differential.
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. 15 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 – 354Combined sources
Turni36 – 394Combined sources
Beta strandi40 – 434Combined sources
Beta strandi46 – 483Combined sources
Beta strandi51 – 544Combined sources
Helixi57 – 593Combined sources
Helixi62 – 643Combined sources
Helixi65 – 7410Combined sources
Beta strandi78 – 836Combined sources
Helixi86 – 894Combined sources
Helixi100 – 1023Combined sources
Helixi104 – 11310Combined sources
Beta strandi117 – 1215Combined sources
Helixi131 – 1344Combined sources
Helixi137 – 1415Combined sources
Beta strandi147 – 1493Combined sources
Helixi152 – 16918Combined sources
Helixi170 – 1723Combined sources
Helixi174 – 1763Combined sources
Beta strandi178 – 1847Combined sources
Beta strandi186 – 1883Combined sources
Helixi189 – 1913Combined sources
Helixi197 – 21115Combined sources
Beta strandi213 – 22412Combined sources
Helixi225 – 2317Combined sources
Beta strandi236 – 2416Combined sources
Helixi248 – 25811Combined sources
Beta strandi260 – 2623Combined sources
Beta strandi265 – 2728Combined sources
Helixi286 – 29813Combined sources
Beta strandi302 – 3065Combined sources
Turni322 – 3243Combined sources
Helixi345 – 35410Combined sources
Turni355 – 3573Combined sources
Beta strandi375 – 3784Combined sources
Beta strandi380 – 3845Combined sources
Turni385 – 3884Combined sources
Helixi389 – 3924Combined sources
Beta strandi398 – 4025Combined sources
Helixi407 – 4093Combined sources
Beta strandi413 – 4219Combined sources
Beta strandi426 – 4338Combined sources
Beta strandi439 – 4479Combined sources
Beta strandi450 – 4567Combined sources
Turni457 – 4593Combined sources
Beta strandi462 – 4676Combined sources
Beta strandi472 – 4787Combined sources
Helixi487 – 4893Combined sources
Beta strandi509 – 5135Combined sources
Helixi516 – 5216Combined sources
Turni522 – 5276Combined sources
Beta strandi550 – 5567Combined sources
Beta strandi568 – 5725Combined sources
Beta strandi578 – 5836Combined sources
Beta strandi586 – 5916Combined sources
Turni593 – 5953Combined sources
Beta strandi601 – 6033Combined sources
Helixi605 – 6073Combined sources
Beta strandi610 – 6123Combined sources
Beta strandi614 – 6229Combined sources
Beta strandi627 – 6293Combined sources
Helixi631 – 6333Combined sources
Beta strandi634 – 6418Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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

        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)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. 1 Publication