Details for: HEXB

Gene ID: 3074

Symbol: HEXB

Ensembl ID: ENSG00000049860

Description: hexosaminidase subunit beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 266.4177
    Cell Significance Index: -41.4400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 148.0031
    Cell Significance Index: -37.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.4249
    Cell Significance Index: -47.8900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 98.9029
    Cell Significance Index: -40.1800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 89.7771
    Cell Significance Index: -46.1800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 71.4209
    Cell Significance Index: -47.9300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 42.3884
    Cell Significance Index: -40.4700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 35.0702
    Cell Significance Index: -43.2400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.2318
    Cell Significance Index: -38.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.0085
    Cell Significance Index: -43.4400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.9008
    Cell Significance Index: -30.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.8361
    Cell Significance Index: -17.1500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.1275
    Cell Significance Index: 83.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.4311
    Cell Significance Index: 113.3500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.0457
    Cell Significance Index: 37.8100
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.7712
    Cell Significance Index: 11.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0272
    Cell Significance Index: 206.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8227
    Cell Significance Index: 449.2700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.7579
    Cell Significance Index: 97.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7259
    Cell Significance Index: 99.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7081
    Cell Significance Index: 70.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6303
    Cell Significance Index: 569.1500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5438
    Cell Significance Index: 195.0500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5274
    Cell Significance Index: 27.4700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4974
    Cell Significance Index: 37.0700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4909
    Cell Significance Index: 88.4900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4744
    Cell Significance Index: 58.3300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4097
    Cell Significance Index: 18.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3936
    Cell Significance Index: 174.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3933
    Cell Significance Index: 25.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3784
    Cell Significance Index: 48.8900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3546
    Cell Significance Index: 70.3700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3284
    Cell Significance Index: 8.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2930
    Cell Significance Index: 20.2600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2923
    Cell Significance Index: 202.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2823
    Cell Significance Index: 10.6900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2688
    Cell Significance Index: 7.7500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2682
    Cell Significance Index: 7.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2637
    Cell Significance Index: 45.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2274
    Cell Significance Index: 6.1900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1801
    Cell Significance Index: 12.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1375
    Cell Significance Index: 26.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0649
    Cell Significance Index: 3.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0243
    Cell Significance Index: 45.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0238
    Cell Significance Index: 1.8300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0116
    Cell Significance Index: 0.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0099
    Cell Significance Index: 1.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0024
    Cell Significance Index: 4.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0037
    Cell Significance Index: -5.7300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0119
    Cell Significance Index: -7.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0157
    Cell Significance Index: -21.4100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0161
    Cell Significance Index: -11.9500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0186
    Cell Significance Index: -11.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0193
    Cell Significance Index: -14.6200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0204
    Cell Significance Index: -0.5500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0376
    Cell Significance Index: -1.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0399
    Cell Significance Index: -18.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0447
    Cell Significance Index: -32.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0449
    Cell Significance Index: -25.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0548
    Cell Significance Index: -8.9200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0689
    Cell Significance Index: -10.0200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0815
    Cell Significance Index: -1.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0858
    Cell Significance Index: -18.0800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1012
    Cell Significance Index: -1.1500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1256
    Cell Significance Index: -14.3400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1270
    Cell Significance Index: -36.5500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1375
    Cell Significance Index: -16.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1596
    Cell Significance Index: -18.2900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1703
    Cell Significance Index: -3.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1735
    Cell Significance Index: -4.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1856
    Cell Significance Index: -4.0200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2044
    Cell Significance Index: -3.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2428
    Cell Significance Index: -28.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2456
    Cell Significance Index: -5.2300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2526
    Cell Significance Index: -7.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2601
    Cell Significance Index: -8.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2846
    Cell Significance Index: -12.9000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2890
    Cell Significance Index: -14.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3764
    Cell Significance Index: -25.3100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3849
    Cell Significance Index: -20.2100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3853
    Cell Significance Index: -8.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3891
    Cell Significance Index: -40.5200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4526
    Cell Significance Index: -27.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5115
    Cell Significance Index: -28.7000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5380
    Cell Significance Index: -42.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5423
    Cell Significance Index: -33.2500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5686
    Cell Significance Index: -14.9500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5831
    Cell Significance Index: -15.6300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5895
    Cell Significance Index: -37.1600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5955
    Cell Significance Index: -6.1700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.6117
    Cell Significance Index: -9.2900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.6149
    Cell Significance Index: -5.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6524
    Cell Significance Index: -22.6700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7512
    Cell Significance Index: -19.1900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.7843
    Cell Significance Index: -13.4400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8380
    Cell Significance Index: -21.5400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8927
    Cell Significance Index: -28.4300
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.8988
    Cell Significance Index: -5.8600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.9125
    Cell Significance Index: -12.4500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.9256
    Cell Significance Index: -32.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** HEXB is a small, non-coding gene that encodes a single protein subunit of beta-N-acetylhexosaminidase. The protein is a type II transmembrane protein, with the N-terminal cytoplasmic domain and the C-terminal extracellular domain. HEXB is highly conserved across species, with high sequence identity to other beta-N-acetylhexosaminidase subunits. The protein is primarily expressed in cells involved in immune responses, such as macrophages and neutrophils, as well as in neurons and other cell types. HEXB is also involved in the regulation of cell shape and the maintenance of cellular homeostasis. **Pathways and Functions** HEXB plays a critical role in the degradation of gangliosides, glycosphingolipids, and other glycosaminoglycans in the lysosomes of cells. Beta-N-acetylhexosaminidase, which is composed of HEXB, alpha, and gamma subunits, hydrolyzes these molecules into simpler sugars and other compounds. This process is essential for maintaining cellular homeostasis and regulating various cellular processes, including cell migration, adhesion, and signaling. HEXB is also involved in the regulation of immune responses, including neutrophil degranulation and the production of pro-inflammatory cytokines. **Clinical Significance** Dysregulation of the beta-N-acetylhexosaminidase pathway has been implicated in several diseases, including GM2 gangliosidosis type 2 (GM2G2). GM2G2 is a rare genetic disorder characterized by progressive neurodegeneration, accumulation of gangliosides in the brain, and death. Defects in the HEXB gene lead to a reduction in the activity of beta-N-acetylhexosaminidase, resulting in the accumulation of gangliosides and other glycosaminoglycans in the brain. Other diseases associated with HEXB dysfunction include lysosomal storage disorders, such as Tay-Sachs disease and Sandhoff disease. In addition to its role in disease, HEXB is also of interest in the development of therapeutic strategies for various diseases. For example, targeting the beta-N-acetylhexosaminidase pathway has been proposed as a potential therapeutic approach for the treatment of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Furthermore, HEXB may play a role in the regulation of immune responses and inflammation, making it a potential target for the treatment of autoimmune and inflammatory diseases. In conclusion, HEXB is a critical component of the beta-N-acetylhexosaminidase pathway, which plays a vital role in the degradation of gangliosides, glycosphingolipids, and other glycosaminoglycans in the lysosomes of cells. Defects in the HEXB gene have been associated with several diseases, including GM2 gangliosidosis type 2. Further research is needed to fully understand the role of HEXB in disease and to develop therapeutic strategies for the treatment of various diseases.

Genular Protein ID: 1545538541

Symbol: HEXB_HUMAN

Name: Beta-N-acetylhexosaminidase subunit beta

UniProtKB Accession Codes:

P07686

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CORUM 1 CPTAC 2 CTD 1 ChEBI 20 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EC 1 ELM 1 EMBL 20 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 38 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 6 RefSeq 2 Rhea 10 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3013851

Title: Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

PubMed ID: 3013851

DOI: 10.1016/s0021-9258(19)83927-3

PubMed ID: 2977375

Title: Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

PubMed ID: 2977375

DOI: 10.1016/0888-7543(88)90116-4

PubMed ID: 2964638

Title: Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

PubMed ID: 2964638

DOI: 10.1073/pnas.85.6.1883

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 2971039

Title: Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.

PubMed ID: 2971039

DOI: 10.1016/s0021-9258(18)37728-7

PubMed ID: 2147427

Title: Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase.

PubMed ID: 2147427

DOI: 10.1016/s0021-9258(17)45286-0

PubMed ID: 2966076

Title: Localization of the pro-sequence within the total deduced primary structure of human beta-hexosaminidase B.

PubMed ID: 2966076

DOI: 10.1016/0014-5793(88)80699-9

PubMed ID: 2139028

Title: Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A.

PubMed ID: 2139028

DOI: 10.1016/s0021-9258(19)39219-1

PubMed ID: 2525487

Title: The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes.

PubMed ID: 2525487

DOI: 10.1016/0014-5793(89)80649-0

PubMed ID: 2965147

Title: Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

PubMed ID: 2965147

DOI: 10.1016/s0021-9258(18)68826-x

PubMed ID: 2579389

Title: Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

PubMed ID: 2579389

DOI: 10.1073/pnas.82.4.1184

PubMed ID: 2971395

Title: Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.

PubMed ID: 2971395

DOI: 10.1021/bi00414a041

PubMed ID: 8123671

Title: Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.

PubMed ID: 8123671

DOI: 10.1016/0304-4165(94)90118-x

PubMed ID: 8672428

Title: Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.

PubMed ID: 8672428

DOI: 10.1021/bi9524575

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 11329289

Title: Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B.

PubMed ID: 11329289

DOI: 10.1021/bi002018s

PubMed ID: 11447134

Title: Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS.

PubMed ID: 11447134

DOI: 10.1093/glycob/11.7.549

PubMed ID: 11707436

Title: Physiological substrates for human lysosomal beta -hexosaminidase S.

PubMed ID: 11707436

DOI: 10.1074/jbc.m105457200

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: 8673609

Title: Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.

PubMed ID: 8673609

DOI: 10.1038/nsb0796-638

PubMed ID: 12662933

Title: Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.

PubMed ID: 12662933

DOI: 10.1016/s0022-2836(03)00216-x

PubMed ID: 12706724

Title: The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.

PubMed ID: 12706724

DOI: 10.1016/s0022-2836(03)00311-5

PubMed ID: 1825792

Title: The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

PubMed ID: 1825792

DOI: 10.1016/0925-4439(91)90044-a

PubMed ID: 1720305

Title: Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

PubMed ID: 1720305

DOI: 10.1016/s0006-291x(05)81388-9

PubMed ID: 1531140

Title: A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

PubMed ID: 1531140

DOI: 10.1016/s0021-9258(18)45894-2

PubMed ID: 8357844

Title: Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

PubMed ID: 8357844

DOI: 10.1016/0925-4439(93)90134-m

PubMed ID: 7626071

Title: A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.

PubMed ID: 7626071

DOI: 10.1006/bbrc.1995.2007

PubMed ID: 7557963

Title: A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

PubMed ID: 7557963

DOI: 10.1007/bf00191799

PubMed ID: 7633435

Title: A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

PubMed ID: 7633435

DOI: 10.1093/hmg/4.4.777

PubMed ID: 8950198

Title: Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

PubMed ID: 8950198

DOI: 10.1016/s0925-4439(96)00044-0

PubMed ID: 9401004

Title: Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

PubMed ID: 9401004

DOI: 10.1002/(sici)1098-1004(1997)10:6<424::aid-humu2>3.0.co;2-d

PubMed ID: 9856491

Title: Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

PubMed ID: 9856491

DOI: 10.1007/s004390050851

PubMed ID: 9694901

Title: A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PubMed ID: 9694901

DOI: 10.1074/jbc.273.33.21386

Sequence Information:

  • Length: 556
  • Mass: 63137
  • Checksum: 2267BF1453EA50EF
  • Sequence:
    • MELCGLGLPR PPMLLALLLA TLLAAMLALL TQVALVVQVA EAARAPSVSA KPGPALWPLP 
LLVKMTPNLL HLAPENFYIS HSPNSTAGPS CTLLEEAFRR YHGYIFGFYK WHHEPAEFQA 
KTQVQQLLVS ITLQSECDAF PNISSDESYT LLVKEPVAVL KANRVWGALR GLETFSQLVY 
QDSYGTFTIN ESTIIDSPRF SHRGILIDTS RHYLPVKIIL KTLDAMAFNK FNVLHWHIVD 
DQSFPYQSIT FPELSNKGSY SLSHVYTPND VRMVIEYARL RGIRVLPEFD TPGHTLSWGK 
GQKDLLTPCY SRQNKLDSFG PINPTLNTTY SFLTTFFKEI SEVFPDQFIH LGGDEVEFKC 
WESNPKIQDF MRQKGFGTDF KKLESFYIQK VLDIIATINK GSIVWQEVFD DKAKLAPGTI 
VEVWKDSAYP EELSRVTASG FPVILSAPWY LDLISYGQDW RKYYKVEPLD FGGTQKQKQL 
FIGGEACLWG EYVDATNLTP RLWPRASAVG ERLWSSKDVR DMDDAYDRLT RHRCRMVERG 
IAAQPLYAGY CNHENM

Genular Protein ID: 1225928075

Symbol: A0A024RAJ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A024RAJ6

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 20 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 GO 8 Gene3D 2 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 1 PeptideAtlas 1 Pfam 4 RefSeq 1 Rhea 10 SMR 1 SUPFAM 2

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 556
  • Mass: 63111
  • Checksum: B3A0A36594F62536
  • Sequence:
    • MELCGLGLPR PPMLLALLLA TLLAAMLALL TQVALVVQVA EAARAPSVSA KPGPALWPLP 
LSVKMTPNLL HLAPENFYIS HSPNSTAGPS CTLLEEAFRR YHGYIFGFYK WHHEPAEFQA 
KTQVQQLLVS ITLQSECDAF PNISSDESYT LLVKEPVAVL KANRVWGALR GLETFSQLVY 
QDSYGTFTIN ESTIIDSPRF SHRGILIDTS RHYLPVKIIL KTLDAMAFNK FNVLHWHIVD 
DQSFPYQSIT FPELSNKGSY SLSHVYTPND VRMVIEYARL RGIRVLPEFD TPGHTLSWGK 
GQKDLLTPCY SRQNKLDSFG PINPTLNTTY SFLTTFFKEI SEVFPDQFIH LGGDEVEFKC 
WESNPKIQDF MRQKGFGTDF KKLESFYIQK VLDIIATINK GSIVWQEVFD DKAKLAPGTI 
VEVWKDSAYP EELSRVTASG FPVILSAPWY LDLISYGQDW RKYYKVEPLD FGGTQKQKQL 
FIGGEACLWG EYVDATNLTP RLWPRASAVG ERLWSSKDVR DMDDAYDRLT RHRCRMVERG 
IAAQPLYAGY CNHENM

Genular Protein ID: 995853522

Symbol: Q5URX0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5URX0

Database IDs:

ARBA 13 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 20 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 9 Ensembl 2 GO 4 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PIRSR 1 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 Rhea 10 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15459180

Title: Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.

PubMed ID: 15459180

DOI: 10.1093/hmg/ddh315

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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

Sequence Information:

  • Length: 331
  • Mass: 38258
  • Checksum: 53040064142332FD
  • Sequence:
    • MAFNKFNVLH WHIVDDQSFP YQSITFPELS NKGSYSLSHV YTPNDVRMVI EYARLRGIRV 
LPEFDTPGHT LSWGKGQKDL LTPCYSRQNK LDSFGPINPT LNTTYSFLTT FFKEISEVFP 
DQFIHLGGDE VEFKCWESNP KIQDFMRQKG FGTDFKKLES FYIQKVLDII ATINKGSIVW 
QEVFDDKAKL APGTIVEVWK DSAYPEELSR VTASGFPVIL SAPWYLDLIS YGQDWRKYYK 
VEPLDFGGTQ KQKQLFIGGE ACLWGEYVDA TNLTPRLWPR ASAVGERLWS SKDVRDMDDA 
YDRLTRHRCR MVERGIAAQP LYAGYCNHEN M

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.