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Identification
HMDB Protein ID HMDBP00871
Secondary Accession Numbers
  • 6153
Name Beta-hexosaminidase subunit beta
Synonyms
  1. Beta-N-acetylhexosaminidase subunit beta
  2. Beta-hexosaminidase subunit beta chain A
  3. Beta-hexosaminidase subunit beta chain B
  4. Cervical cancer proto-oncogene 7 protein
  5. HCC-7
  6. Hexosaminidase subunit B
  7. N-acetyl-beta-glucosaminidase subunit beta
Gene Name HEXB
Protein Type Enzyme
Biological Properties
General Function Involved in beta-N-acetylhexosaminidase activity
Specific Function Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.
Pathways
  • Amino sugar and nucleotide sugar metabolism
  • Glycosaminoglycan degradation
  • Glycosphingolipid biosynthesis - ganglio series
  • Glycosphingolipid biosynthesis - globo series
  • Lysosome
  • Other glycan degradation
Reactions
+ Water → + N-Acetyl-b-D-galactosamine details
GO Classification
Biological Process
myelination
sensory perception of sound
locomotory behavior
neuromuscular process controlling balance
lipid storage
regulation of cell shape
phospholipid metabolic process
penetration of zona pellucida
keratan sulfate catabolic process
hyaluronan catabolic process
cellular protein metabolic process
cellular calcium ion homeostasis
skeletal system development
positive regulation of transcription from RNA polymerase II promoter
ganglioside catabolic process
astrocyte cell migration
male courtship behavior
oligosaccharide catabolic process
oogenesis
phospholipid biosynthetic process
N-acetylglucosamine metabolic process
carbohydrate metabolic process
glycosphingolipid metabolic process
cell death
chondroitin sulfate catabolic process
lysosome organization
Cellular Component
lysosomal lumen
acrosomal vesicle
membrane
Function
ion binding
cation binding
hexosaminidase activity
beta-n-acetylhexosaminidase activity
binding
catalytic activity
hydrolase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity, hydrolyzing o-glycosyl compounds
Molecular Function
cation binding
protein homodimerization activity
beta-N-acetylhexosaminidase activity
beta-N-acetylglucosaminidase activity
protein heterodimerization activity
Process
metabolic process
primary metabolic process
carbohydrate metabolic process
Cellular Location
  1. Lysosome
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs HEXB
Gene Sequence
>1671 bp
ATGGAGCTGTGCGGGCTGGGGCTGCCCCGGCCGCCCATGCTGCTGGCGCTGCTGTTGGCG
ACACTGCTGGCGGCGATGTTGGCGCTGCTGACTCAGGTGGCGCTGGTGGTGCAGGTGGCG
GAGGCGGCTCGGGCCCCGAGCGTCTCGGCCAAGCCGGGGCCGGCGCTGTGGCCCCTGCCG
CTCTCGGTGAAGATGACCCCGAACCTGCTGCATCTCGCCCCGGAGAACTTCTACATCAGC
CACAGCCCCAATTCCACGGCGGGCCCCTCCTGCACCCTGCTGGAGGAAGCGTTTCGACGA
TATCATGGCTATATTTTTGGTTTCTACAAGTGGCATCATGAACCTGCTGAATTCCAGGCT
AAAACCCAGGTTCAGCAACTTCTTGTCTCAATCACCCTTCAGTCAGAGTGTGATGCTTTC
CCCAACATATCTTCAGATGAGTCTTATACTTTACTTGTGAAAGAACCAGTGGCTGTCCTT
AAGGCCAACAGAGTTTGGGGAGCATTACGAGGTTTAGAGACCTTTAGCCAGTTAGTTTAT
CAAGATTCTTATGGAACTTTCACCATCAATGAATCCACCATTATTGATTCTCCAAGGTTT
TCTCACAGAGGAATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAGATTATTCTT
AAAACTCTGGATGCCATGGCTTTTAATAAGTTTAATGTTCTTCACTGGCACATAGTTGAT
GACCAGTCTTTCCCATATCAGAGCATCACTTTTCCTGAGTTAAGCAATAAAGGAAGCTAT
TCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTA
CGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAA
GGTCAGAAAGACCTCCTGACTCCATGTTACAGTAGACAAAACAAGTTGGACTCTTTTGGA
CCTATAAACCCTACTCTGAATACAACATACAGCTTCCTTACTACATTTTTCAAAGAAATT
AGTGAGGTGTTTCCAGATCAATTCATTCATTTGGGAGGAGATGAAGTGGAATTTAAATGT
TGGGAATCAAATCCAAAAATTCAAGATTTCATGAGGCAAAAAGGCTTTGGCACAGATTTT
AAGAAACTAGAATCTTTCTACATTCAAAAGGTTTTGGATATTATTGCAACCATAAACAAG
GGATCCATTGTCTGGCAGGAGGTTTTTGATGATAAAGCAAAGCTTGCGCCGGGCACAATA
GTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGC
TTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGG
AGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCGGTACTCAGAAACAGAAACAACTT
TTCATTGGTGGAGAAGCTTGTCTATGGGGAGAATATGTGGATGCAACTAACCTCACTCCA
AGATTATGGCCTCGGGCAAGTGCTGTTGGTGAGAGACTCTGGAGTTCCAAAGATGTCAGA
GATATGGATGACGCCTATGACAGACTGACAAGGCACCGCTGCAGGATGGTCGAACGTGGA
ATAGCTGCACAACCTCTTTATGCTGGATATTGTAACCATGAGAACATGTAA
Protein Properties
Number of Residues 556
Molecular Weight Not Available
Theoretical pI Not Available
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Beta-hexosaminidase subunit beta
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM
GenBank ID Protein 21309953
UniProtKB/Swiss-Prot ID P07686
UniProtKB/Swiss-Prot Entry Name HEXB_HUMAN
PDB IDs
GenBank Gene ID AF378118
GeneCard ID HEXB
GenAtlas ID HEXB
HGNC ID HGNC:4879
References
General References
  1. 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. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Zhang H, Li XJ, Martin DB, Aebersold R: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nat Biotechnol. 2003 Jun;21(6):660-6. Epub 2003 May 18. [PubMed:12754519 ]
  4. Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, Anderson MJ, Lowden JA, Gravel RA: 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. J Biol Chem. 1986 Jun 25;261(18):8407-13. [PubMed:3013851 ]
  5. Neote K, Bapat B, Dumbrille-Ross A, Troxel C, Schuster SM, Mahuran DJ, Gravel RA: Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase. Genomics. 1988 Nov;3(4):279-86. [PubMed:2977375 ]
  6. Proia RL: Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes. Proc Natl Acad Sci U S A. 1988 Mar;85(6):1883-7. [PubMed:2964638 ]
  7. Sonderfeld-Fresko S, Proia RL: Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system. J Biol Chem. 1988 Sep 15;263(26):13463-9. [PubMed:2971039 ]
  8. Neote K, Brown CA, Mahuran DJ, Gravel RA: Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase. J Biol Chem. 1990 Dec 5;265(34):20799-806. [PubMed:2147427 ]
  9. Stirling J, Leung A, Gravel RA, Mahuran D: Localization of the pro-sequence within the total deduced primary structure of human beta-hexosaminidase B. FEBS Lett. 1988 Apr 11;231(1):47-50. [PubMed:2966076 ]
  10. Mahuran DJ: Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A. J Biol Chem. 1990 Apr 25;265(12):6794-9. [PubMed:2139028 ]
  11. Hubbes M, Callahan J, Gravel R, Mahuran D: 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. FEBS Lett. 1989 Jun 5;249(2):316-20. [PubMed:2525487 ]
  12. Mahuran DJ, Neote K, Klavins MH, Leung A, Gravel RA: Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits. J Biol Chem. 1988 Apr 5;263(10):4612-8. [PubMed:2965147 ]
  13. O'Dowd BF, Quan F, Willard HF, Lamhonwah AM, Korneluk RG, Lowden JA, Gravel RA, Mahuran DJ: Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A. 1985 Feb;82(4):1184-8. [PubMed:2579389 ]
  14. O'Dowd BF, Cumming DA, Gravel RA, Mahuran D: Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase. Biochemistry. 1988 Jul 12;27(14):5216-26. [PubMed:2971395 ]
  15. Schuette CG, Weisgerber J, Sandhoff K: Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. Glycobiology. 2001 Jul;11(7):549-56. [PubMed:11447134 ]
  16. Tews I, Perrakis A, Oppenheim A, Dauter Z, Wilson KS, Vorgias CE: Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease. Nat Struct Biol. 1996 Jul;3(7):638-48. [PubMed:8673609 ]
  17. Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN: Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327(5):1093-109. [PubMed:12662933 ]
  18. Maier T, Strater N, Schuette CG, Klingenstein R, Sandhoff K, Saenger W: The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. J Mol Biol. 2003 May 2;328(3):669-81. [PubMed:12706724 ]
  19. Mahuran DJ: The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. Biochim Biophys Acta. 1991 Feb 22;1096(2):87-94. [PubMed:1825792 ]
  20. Banerjee P, Siciliano L, Oliveri D, McCabe NR, Boyers MJ, Horwitz AL, Li SC, Dawson G: Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. Biochem Biophys Res Commun. 1991 Nov 27;181(1):108-15. [PubMed:1720305 ]
  21. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S: A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. J Biol Chem. 1992 Feb 5;267(4):2406-13. [PubMed:1531140 ]
  22. Bolhuis PA, Ponne NJ, Bikker H, Baas F, Vianney de Jong JM: 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. Biochim Biophys Acta. 1993 Sep 8;1182(2):142-6. [PubMed:8357844 ]
  23. Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H: A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease. Biochem Biophys Res Commun. 1995 Jul 17;212(2):564-71. [PubMed:7626071 ]
  24. Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Salviati A: A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. Hum Genet. 1995 Oct;96(4):417-22. [PubMed:7557963 ]
  25. Zhang ZX, Wakamatsu N, Akerman BR, Mules EH, Thomas GH, Gravel RA: A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. Hum Mol Genet. 1995 Apr;4(4):777-80. [PubMed:7633435 ]
  26. Redonnet-Vernhet I, Mahuran DJ, Salvayre R, Dubas F, Levade T: 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. Biochim Biophys Acta. 1996 Nov 15;1317(2):127-33. [PubMed:8950198 ]
  27. Narkis G, Adam A, Jaber L, Pennybacker M, Proia RL, Navon R: Molecular basis of heat labile hexosaminidase B among Jews and Arabs. Hum Mutat. 1997;10(6):424-9. [PubMed:9401004 ]
  28. Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G: Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease. Hum Genet. 1998 Oct;103(4):462-9. [PubMed:9856491 ]
  29. Hou Y, McInnes B, Hinek A, Karpati G, Mahuran D: A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. J Biol Chem. 1998 Aug 14;273(33):21386-92. [PubMed:9694901 ]