Sequence of BGAL_HUMAN
EC Number:3.2.1.23
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
beta-D-galactopyranosyl-(1-4)-beta-D-galactopyranosyl-(1-6)-beta-D-galactopyranosyl-(1-3)-beta-D-galactopyranose + 3 H2O = 4 beta-D-galactopyranose
Other sequences found for EC No. 3.2.1.23
General information:
Sequence
0 MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY ISGSIHYSRV
60 PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE DHDVEYFLRL AHELGLLVIL
120 RPGPYICAEW EMGGLPAWLL EKESILLRSS DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV
180 ITVQVENEYG SYFACDFDYL RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV
240 DFGTGSNITD AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG
300 ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL RNIIQKFEKV
360 PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS LYPLTFIQVK QHYGFVLYRT
420 TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI PQGVLERNNV ITLNITGKAG ATLDLLVENM
480 GRVNYGAYIN DFKGLVSNLT LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA
540 HNSSNYTLPA FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT
600 LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY DHPSKPVEKR
660 LMPPPPQKNK DSWLDHV
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
10427
Oshima A.,Tsuji A.,Nagao Y.,Sakuraba H.,Suzuki Y.
Cloning, sequencing, and expression of cDNA for human beta-galactosidase.
Biochem. Biophys. Res. Commun.
157
238-244
1988
10428
Morreau H.,Galjart N.J.,Gillemans N.,Willemsen R.,van der Horst G.T.J.,D'Azzo A.
Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
J. Biol. Chem.
264
20655-20663
1989
10429
Yamamoto Y.,Hake C.A.,Martin B.M.,Kretz K.A.,Ahern-Rindell A.J.,Naylor S.L.,Mudd M.,O'Brien J.S.
Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.
DNA Cell Biol.
9
119-127
1990
10430
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
10432
Muzny D.M.,Scherer S.E.,Kaul R.,Wang J.,Yu J.,Sudbrak R.,Buhay C.J.,Chen R.,Cree A.,Ding Y.,Dugan-Rocha S.,Gill R.,Gunaratne P.,Harris R.A.,Hawes A.C.,Hernandez J.,Hodgson A.V.,Hume J.,Jackson A.,Khan Z.M.,Kovar-Smith C.,Lewis L.R.,Lozado R.J.,Metzker M.L.,Milosavljevic A.,Miner G.R.,Morgan M.B.,Nazareth L.V.,Scott G.,Sodergren E.,Song X.-Z.,Steffen D.,Wei S.,Wheeler D.A.,Wright M.W.,Worley K.C.,Yuan Y.,Zhang Z.,Adams C.Q.,Ansari-Lari M.A.,Ayele M.,Brown M.J.,Chen G.,Chen Z.,Clendenning J.,Clerc-Blankenburg K.P.,Chen R.,Chen Z.,Davis C.,Delgado O.,Dinh H.H.,Dong W.,Draper H.,Ernst S.,Fu G.,Gonzalez-Garay M.L.,Garcia D.K.,Gillett W.,Gu J.,Hao B.,Haugen E.,Havlak P.,He X.,Hennig S.,Hu S.,Huang W.,Jackson L.R.,Jacob L.S.,Kelly S.H.,Kube M.,Levy R.,Li Z.,Liu B.,Liu J.,Liu W.,Lu J.,Maheshwari M.,Nguyen B.-V.,Okwuonu G.O.,Palmeiri A.,Pasternak S.,Perez L.M.,Phelps K.A.,Plopper F.J.,Qiang B.,Raymond C.,Rodriguez R.,Saenphimmachak C.,Santibanez J.,Shen H.,Shen Y.,Subramanian S.,Tabor P.E.,Verduzco D.,Waldron L.,Wang J.,Wang J.,Wang Q.,Williams G.A.,Wong G.K.-S.,Yao Z.,Zhang J.,Zhang X.,Zhao G.,Zhou J.,Zhou Y.,Nelson D.,Lehrach H.,Reinhardt R.,Naylor S.L.,Yang H.,Olson M.,Weinstock G.,Gibbs R.A.
The DNA sequence, annotation and analysis of human chromosome 3.
Nature
440
1194-1198
2006
10433
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
10434
Willemsen R.,Hoogeveen A.T.,Sips H.J.,van Dongen J.M.,Galjaard H.
Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts.
Eur. J. Cell Biol.
40
9-15
1986
10435
Hinek A.,Rabinovitch M.,Keeley F.,Okamura-Oho Y.,Callahan J.
The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase.
J. Clin. Invest.
91
1198-1205
1993
10436
Zschoche A.,Fuerst W.,Schwarzmann G.,Sanhoff K.
Hydrolysis of lactosylceramide by human galactosylceramidase and GM1-beta-galactosidase in a detergent-free system and its stimulation by sphingolipid activator proteins, sap-B and sap-C. Activator proteins stimulate lactosylceramide hydrolysis.
Eur. J. Biochem.
222
83-90
1994
10437
Hinek A.
Biological roles of the non-integrin elastin/laminin receptor.
Biol. Chem.
377
471-480
1996
10438
Privitera S.,Prody C.A.,Callahan J.W.,Hinek A.
The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.
J. Biol. Chem.
273
6319-6326
1998
10439
Callahan J.W.
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Biochim. Biophys. Acta
1455
85-103
1999
10440
Hinek A.,Zhang S.,Smith A.C.,Callahan J.W.
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Am. J. Hum. Genet.
67
23-36
2000
10441
Lewandrowski U.,Moebius J.,Walter U.,Sickmann A.
Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.
Mol. Cell. Proteomics
5
226-233
2006
10442
Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
J. Proteome Res.
8
651-661
2009
10443
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
10444
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
10445
Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.
N-terminome analysis of the human mitochondrial proteome.
Proteomics
15
2519-2524
2015
10446
Ohto U.,Usui K.,Ochi T.,Yuki K.,Satow Y.,Shimizu T.
Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
J. Biol. Chem.
287
1801-1812
2012
10447
Suzuki H.,Ohto U.,Higaki K.,Mena-Barragan T.,Aguilar-Moncayo M.,Ortiz Mellet C.,Nanba E.,Garcia Fernandez J.M.,Suzuki Y.,Shimizu T.
Structural basis of pharmacological chaperoning for human beta-galactosidase.
J. Biol. Chem.
289
14560-14568
2014
10448
Oshima A.,Yoshida K.,Shimmoto M.,Fukuhara Y.,Sakuraba H.,Suzuki Y.
Human beta-galactosidase gene mutations in morquio B disease.
Am. J. Hum. Genet.
49
1091-1093
1991
10449
Nishimoto J.,Nanba E.,Inui K.,Okada S.,Suzuki K.
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
Am. J. Hum. Genet.
49
566-574
1991
10450
Yoshida K.,Oshima A.,Shimmoto M.,Fukuhara Y.,Sakuraba H.,Yanagisawa N.,Suzuki Y.
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
Am. J. Hum. Genet.
49
435-442
1991
10451
Mosna G.,Fattore S.,Tubiello G.,Brocca S.,Trubia M.,Gianazza E.,Gatti R.,Danesino C.,Minelli A.,Piantanida M.
A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
Hum. Genet.
90
247-250
1992
10452
Boustany R.-M.N.,Qian W.-H.,Suzuki K.
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
Am. J. Hum. Genet.
53
881-888
1993
10453
Chakraborty S.,Rafi M.A.,Wenger D.A.
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
Am. J. Hum. Genet.
54
1004-1013
1994
10455
Ishii N.,Oohira T.,Oshima A.,Sakuraba H.,Endo F.,Matsuda I.,Sukegawa K.,Orii T.,Suzuki Y.
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Clin. Genet.
48
103-108
1995
10458
Kaye E.M.,Shalish C.,Livermore J.,Taylor H.A.,Stevenson R.E.,Breakefield X.O.
Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
J. Child Neurol.
12
242-247
1997
10459
Bagshaw R.D.,Zhang S.,Hinek A.,Skomorowski M.-A.,Whelan D.,Clarke J.T.R.,Callahan J.W.
Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
Biochim. Biophys. Acta
1588
247-253
2002
10460
Silva C.M.D.,Severini M.H.,Sopelsa A.,Coelho J.C.,Zaha A.,d'Azzo A.,Giugliani R.
Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Hum. Mutat.
13
401-409
1999
10461
Zhang S.,Bagshaw R.,Hilson W.,Oho Y.,Hinek A.,Clarke J.T.R.,Hinek A.,Callahan J.W.
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
Biochem. J.
348
621-632
2000
10462
Morrone A.,Bardelli T.,Donati M.A.,Giorgi M.,Di Rocco M.,Gatti R.,Parini R.,Ricci R.,Taddeucci G.,D'Azzo A.,Zammarchi E.
Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Hum. Mutat.
15
354-366
2000
10463
Paschke E.,Milos I.,Kreimer-Erlacher H.,Hoefler G.,Beck M.,Hoeltzenbein M.,Kleijer W.,Levade T.,Michelakakis H.,Radeva B.
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Hum. Genet.
109
159-166
2001
10464
Caciotti A.,Bardelli T.,Cunningham J.,D'Azzo A.,Zammarchi E.,Morrone A.
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Hum. Genet.
113
44-50
2003
10465
Georgiou T.,Drousiotou A.,Campos Y.,Caciotti A.,Sztriha L.,Gururaj A.,Ozand P.,Zammarchi E.,Morrone A.,D'Azzo A.
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Hum. Mutat.
24
352-352
2004
10467
Caciotti A.,Donati M.A.,Boneh A.,d'Azzo A.,Federico A.,Parini R.,Antuzzi D.,Bardelli T.,Nosi D.,Kimonis V.,Zammarchi E.,Morrone A.
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Hum. Mutat.
25
285-292
2005
10468
Gururaj A.,Sztriha L.,Hertecant J.,Johansen J.G.,Georgiou T.,Campos Y.,Drousiotou A.,d'Azzo A.
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
J. Child Neurol.
20
57-60
2005
10469
Roze E.,Paschke E.,Lopez N.,Eck T.,Yoshida K.,Maurel-Ollivier A.,Doummar D.,Caillaud C.,Galanaud D.,Billette de Villemeur T.,Vidailhet M.,Roubergue A.
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Mov. Disord.
20
1366-1369
2005
10470
Santamaria R.,Chabas A.,Coll M.J.,Miranda C.S.,Vilageliu L.,Grinberg D.
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies.
Hum. Mutat.
27
1060-1060
2006
10471
Tatano Y.,Takeuchi N.,Kuwahara J.,Sakuraba H.,Takahashi T.,Takada G.,Itoh K.
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
J. Med. Invest.
53
103-112
2006
10472
Santamaria R.,Blanco M.,Chabas A.,Grinberg D.,Vilageliu L.
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Clin. Genet.
71
273-279
2007
10473
Gort L.,Santamaria R.,Grinberg D.,Vilageliu L.,Chabas A.
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
Clin. Genet.
72
109-111
2007
10474
Santamaria R.,Chabas A.,Callahan J.W.,Grinberg D.,Vilageliu L.
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
J. Lipid Res.
48
2275-2282
2007
10475
Hofer D.,Paul K.,Fantur K.,Beck M.,Buerger F.,Caillaud C.,Fumic K.,Ledvinova J.,Lugowska A.,Michelakakis H.,Radeva B.,Ramaswami U.,Plecko B.,Paschke E.
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hum. Mutat.
30
1214-1221
2009
10476
Bidchol A.M.,Dalal A.,Trivedi R.,Shukla A.,Nampoothiri S.,Sankar V.H.,Danda S.,Gupta N.,Kabra M.,Hebbar S.A.,Bhat R.Y.,Matta D.,Ekbote A.V.,Puri R.D.,Phadke S.R.,Gowrishankar K.,Aggarwal S.,Ranganath P.,Sharda S.,Kamate M.,Datar C.A.,Bhat K.,Kamath N.,Shah H.,Krishna S.,Gopinath P.M.,Verma I.C.,Nagarajaram H.A.,Satyamoorthy K.,Girisha K.M.
Recurrent and novel GLB1 mutations in India.
Gene
567
173-181
2015
