Details for: GLB1

Gene ID: 2720

Symbol: GLB1

Ensembl ID: ENSG00000170266

Description: galactosidase beta 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.72
    Marker Score: 65312
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.56
    Marker Score: 95936
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.56
    Marker Score: 33201
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.55
    Marker Score: 6097
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.53
    Marker Score: 56381
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.5
    Marker Score: 14087
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.49
    Marker Score: 14130
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.49
    Marker Score: 6164
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167293
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.46
    Marker Score: 15039
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.45
    Marker Score: 5913
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.45
    Marker Score: 12469
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.42
    Marker Score: 2194
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4
    Marker Score: 5420
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.38
    Marker Score: 20664
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.31
    Marker Score: 33625
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.3
    Marker Score: 543
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.29
    Marker Score: 25688
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.28
    Marker Score: 704
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.27
    Marker Score: 5466
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.25
    Marker Score: 9552
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.21
    Marker Score: 1285
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.21
    Marker Score: 667
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.2
    Marker Score: 2625.5
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.17
    Marker Score: 40598
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.13
    Marker Score: 561
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.12
    Marker Score: 263
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.11
    Marker Score: 744
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.09
    Marker Score: 1108
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.07
    Marker Score: 302
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.07
    Marker Score: 640
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.05
    Marker Score: 2815
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.04
    Marker Score: 516.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.03
    Marker Score: 2606
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.03
    Marker Score: 1107
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.02
    Marker Score: 413
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.02
    Marker Score: 329
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.02
    Marker Score: 279
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.02
    Marker Score: 356
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.01
    Marker Score: 879
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.01
    Marker Score: 17970
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.01
    Marker Score: 2520
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71666
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47891
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.99
    Marker Score: 55369
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30384
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.98
    Marker Score: 995
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.97
    Marker Score: 11285
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.96
    Marker Score: 1018
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.96
    Marker Score: 1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.96
    Marker Score: 995
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14741
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2393
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.93
    Marker Score: 2182
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.92
    Marker Score: 1157.5
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.91
    Marker Score: 912
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2695
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5097
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.89
    Marker Score: 985
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.89
    Marker Score: 1023
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.89
    Marker Score: 956
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.88
    Marker Score: 1997
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.88
    Marker Score: 620
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.87
    Marker Score: 4157
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.85
    Marker Score: 1207
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.85
    Marker Score: 1550
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.85
    Marker Score: 1652
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.84
    Marker Score: 1763
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.84
    Marker Score: 769
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.84
    Marker Score: 3501.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.83
    Marker Score: 1891
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.83
    Marker Score: 5031
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.82
    Marker Score: 1953
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.82
    Marker Score: 333
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.82
    Marker Score: 399
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.82
    Marker Score: 1360
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.82
    Marker Score: 327
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.81
    Marker Score: 352
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.81
    Marker Score: 511
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 617
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.8
    Marker Score: 1547
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.8
    Marker Score: 499
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.8
    Marker Score: 2829
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.8
    Marker Score: 499
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.79
    Marker Score: 196
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.78
    Marker Score: 282
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.78
    Marker Score: 908
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.77
    Marker Score: 529
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.77
    Marker Score: 286
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.77
    Marker Score: 1407
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.76
    Marker Score: 223
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.76
    Marker Score: 242
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.76
    Marker Score: 919
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.76
    Marker Score: 518
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.75
    Marker Score: 3491

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Other Information

**Key characteristics:** * GLB1 is a glycoprotein that is composed of 180 amino acids. * It is a transmembrane protein that is expressed on the surface of cells. * It is a member of the galactoside beta-galactoside hydrolase family of enzymes. * It is responsible for the deglycosylation of galactose molecules, which is an important step in the metabolism of lactose. **Pathways and functions:** * GLB1 is involved in the following pathways: * Asparagine n-linked glycosylation * Disease * Diseases associated with n-glycosylation of proteins * Diseases of carbohydrate metabolism * Diseases of glycosylation * Diseases of metabolism * Glycosaminoglycan metabolism * Glycosphingolipid metabolism * Heparan sulfate/heparin (hs-gag) metabolism * It is also involved in the regulation of the immune system. **Clinical significance:** * Mutations in the GLB1 gene have been linked to a number of human diseases, including galactosemia, which is a condition that is caused by a deficiency of galactose. * GLB1 is also involved in the development of Alzheimer's disease, a neurodegenerative disorder that is characterized by the buildup of amyloid plaques and tau tangles in the brain. * Studies of GLB1 mutations have also been linked to other neurological disorders, such as autism, schizophrenia, and epilepsy. **Other important points:** * GLB1 is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. * It is a ubiquitin-dependent protein, which means that it is targeted for degradation by the proteasome when it is no longer needed. * It is a non-covalent regulator of the immune system, which means that it can bind to a variety of proteins and modulate their activity.

Genular Protein ID: 2228774876

Symbol: BGAL_HUMAN

Name: Beta-galactosidase

UniProtKB Accession Codes:

P16278 B2R7H8 B7Z6B0 P16279

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 9 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 20 Gene3D 2 GeneCards 1 GeneReviews 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 18 PDBsum 8 PIR 2 PIRSF 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 7 RefSeq 4 SABIO-RK 1 SAM 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3143362

Title: Cloning, sequencing, and expression of cDNA for human beta-galactosidase.

PubMed ID: 3143362

DOI: 10.1016/s0006-291x(88)80038-x

PubMed ID: 2511208

Title: Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.

PubMed ID: 2511208

DOI: 10.1016/s0021-9258(19)47114-7

PubMed ID: 2111707

Title: Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.

PubMed ID: 2111707

DOI: 10.1089/dna.1990.9.119

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3084261

Title: Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts.

PubMed ID: 3084261

PubMed ID: 8383699

Title: The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase.

PubMed ID: 8383699

DOI: 10.1172/jci116280

PubMed ID: 8200356

Title: 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.

PubMed ID: 8200356

DOI: 10.1111/j.1432-1033.1994.tb18844.x

PubMed ID: 8922281

Title: Biological roles of the non-integrin elastin/laminin receptor.

PubMed ID: 8922281

PubMed ID: 9497360

Title: The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein.

PubMed ID: 9497360

DOI: 10.1074/jbc.273.11.6319

PubMed ID: 10571006

Title: 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.

PubMed ID: 10571006

DOI: 10.1016/s0925-4439(99)00075-7

PubMed ID: 10841810

Title: 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.

PubMed ID: 10841810

DOI: 10.1086/302968

PubMed ID: 16263699

Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.

PubMed ID: 16263699

DOI: 10.1074/mcp.m500324-mcp200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 22128166

Title: Crystal structure of human beta-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

PubMed ID: 22128166

DOI: 10.1074/jbc.m111.293795

PubMed ID: 24737316

Title: Structural basis of pharmacological chaperoning for human beta-galactosidase.

PubMed ID: 24737316

DOI: 10.1074/jbc.m113.529529

PubMed ID: 1928092

Title: Human beta-galactosidase gene mutations in morquio B disease.

PubMed ID: 1928092

PubMed ID: 1909089

Title: GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

PubMed ID: 1909089

PubMed ID: 1907800

Title: Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

PubMed ID: 1907800

PubMed ID: 1487238

Title: A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

PubMed ID: 1487238

DOI: 10.1007/bf00220071

PubMed ID: 8213816

Title: Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

PubMed ID: 8213816

PubMed ID: 8198123

Title: Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PubMed ID: 8198123

PubMed ID: 7586649

Title: Clinical and molecular analysis of a Japanese boy with Morquio B disease.

PubMed ID: 7586649

DOI: 10.1111/j.1399-0004.1995.tb04065.x

PubMed ID: 9203065

Title: Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.

PubMed ID: 9203065

DOI: 10.1177/088307389701200404

PubMed ID: 12393180

Title: Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.

PubMed ID: 12393180

DOI: 10.1016/s0925-4439(02)00172-2

PubMed ID: 10338095

Title: Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.

PubMed ID: 10338095

DOI: 10.1002/(sici)1098-1004(1999)13:5<401::aid-humu9>3.0.co;2-n

PubMed ID: 10839995

Title: Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

PubMed ID: 10839995

DOI: 10.1042/bj3480621

PubMed ID: 10737981

Title: Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

PubMed ID: 10737981

DOI: 10.1002/(sici)1098-1004(200004)15:4<354::aid-humu8>3.0.co;2-l

PubMed ID: 11511921

Title: 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.

PubMed ID: 11511921

DOI: 10.1007/s004390100570

PubMed ID: 12644936

Title: Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

PubMed ID: 12644936

DOI: 10.1007/s00439-003-0930-8

PubMed ID: 15365997

Title: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

PubMed ID: 15365997

DOI: 10.1002/humu.9279

PubMed ID: 15714521

Title: Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

PubMed ID: 15714521

DOI: 10.1002/humu.20147

PubMed ID: 15791924

Title: Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

PubMed ID: 15791924

DOI: 10.1177/08830738050200010901

PubMed ID: 15986423

Title: Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

PubMed ID: 15986423

DOI: 10.1002/mds.20593

PubMed ID: 16941474

Title: 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.

PubMed ID: 16941474

DOI: 10.1002/humu.9451

PubMed ID: 16538002

Title: Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.

PubMed ID: 16538002

DOI: 10.2152/jmi.53.103

PubMed ID: 17309651

Title: Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PubMed ID: 17309651

DOI: 10.1111/j.1399-0004.2007.00767.x

PubMed ID: 17661814

Title: Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.

PubMed ID: 17661814

DOI: 10.1111/j.1399-0004.2007.00843.x

PubMed ID: 17664528

Title: Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

PubMed ID: 17664528

DOI: 10.1194/jlr.m700308-jlr200

PubMed ID: 19472408

Title: GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

PubMed ID: 19472408

DOI: 10.1002/humu.21031

PubMed ID: 25936995

Title: Recurrent and novel GLB1 mutations in India.

PubMed ID: 25936995

DOI: 10.1016/j.gene.2015.04.078

Sequence Information:

  • Length: 677
  • Mass: 76075
  • Checksum: 74421586B1BCFECA
  • Sequence:
    • MPGFLVRILP LLLVLLLLGP TRGLRNATQR MFEIDYSRDS FLKDGQPFRY ISGSIHYSRV 
PRFYWKDRLL KMKMAGLNAI QTYVPWNFHE PWPGQYQFSE DHDVEYFLRL AHELGLLVIL 
RPGPYICAEW EMGGLPAWLL EKESILLRSS DPDYLAAVDK WLGVLLPKMK PLLYQNGGPV 
ITVQVENEYG SYFACDFDYL RFLQKRFRHH LGDDVVLFTT DGAHKTFLKC GALQGLYTTV 
DFGTGSNITD AFLSQRKCEP KGPLINSEFY TGWLDHWGQP HSTIKTEAVA SSLYDILARG 
ASVNLYMFIG GTNFAYWNGA NSPYAAQPTS YDYDAPLSEA GDLTEKYFAL RNIIQKFEKV 
PEGPIPPSTP KFAYGKVTLE KLKTVGAALD ILCPSGPIKS LYPLTFIQVK QHYGFVLYRT 
TLPQDCSNPA PLSSPLNGVH DRAYVAVDGI PQGVLERNNV ITLNITGKAG ATLDLLVENM 
GRVNYGAYIN DFKGLVSNLT LSSNILTDWT IFPLDTEDAV RSHLGGWGHR DSGHHDEAWA 
HNSSNYTLPA FYMGNFSIPS GIPDLPQDTF IQFPGWTKGQ VWINGFNLGR YWPARGPQLT 
LFVPQHILMT SAPNTITVLE LEWAPCSSDD PELCAVTFVD RPVIGSSVTY DHPSKPVEKR 
LMPPPPQKNK DSWLDHV

Genular Protein ID: 342698490

Symbol: B7Z6Q5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z6Q5

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EC 1 EMBL 2 GO 2 Gene3D 2 GenomeRNAi 1 IntAct 1 InterPro 8 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 1 PROSITE 1 PeptideAtlas 1 Pfam 6 RefSeq 1 RuleBase 2 SAM 2 SMR 1 SUPFAM 2

Sequence Information:

  • Length: 725
  • Mass: 81803
  • Checksum: C038C3B616B1EAA2
  • Sequence:
    • MPGFLVRILL LLLVLLLLGP TRGLRSRFLP WAFHLPRQAP KSQLPLHKRG TKTAPNEHAS 
SNRSGRRRRR QQWNATQRMF EIDYSRDSFL KDGQPFRYIS GSIHYSRVPR FYWKDRLLKM 
KMAGLNAIQT YVPWNFHEPW PGQYQFSEDH DVEYFLRLAH ELGLLVILRP GPYICAEWEM 
GGLPAWLLEK ESILLRSSDP DYLAAVDKWL GVLLPKMKPL LYQNGGPVIT VQVENEYGSY 
FACDFDYLRF LQKRFRHHLG DDVVLFTTDG AHKTFLKCGA LQGLYTTVDF GTGSNITDAF 
LSQRKCEPKG PLINSEFYTG WLDHWGQPHS TIKTEAVASS LYDILARGAS VNLYMFIGGT 
NFAYWNGANS PYAAQPTSYD YDAPLSEAGD LTEKYFALRN IIQKFEKVPE GPIPPSTPKF 
AYGKVTLEKL KTVGAALDIL CPSGPIKSLY PLTFIQVKQH YGFVLYRTTL PQDCSNPAPL 
SSPLNGVHDR AYVAVDGIPQ GVLERNNVIT LNITGKAGAT LDLLVENMGR VNYGAYINDF 
KGLVSNLTLS SNILTDWTIF PLDTEDAVRS HLGGWGHRDS GHHDEAWAHN SSNYTLPAFY 
MGNFSIPSGI PDLPQDTFIQ FPGWTKGQVW INGFNLGRYW PARGPQLTLF VPQHILMTSA 
PNTITVLELE WAPCSSDDPE LCAVTFVDRP VIGSSVTYDH PSKPVEKRLM PPPPQKNKDS 
WLDHV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.