Lysosomal alpha-mannosidase

NameLysosomal alpha-mannosidase
Synonyms
  • 3.2.1.24
  • LAMAN
  • Lysosomal acid alpha-mannosidase
  • MANB
  • Mannosidase alpha class 2B member 1
  • Mannosidase alpha-B
Gene NameMAN2B1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009197|Lysosomal alpha-mannosidase
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQP
NMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVE
IAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLE
DTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVA
TAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYL
WELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVG
LAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNAL
ARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDP
NGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRS
WSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAY
IFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIP
VGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNT
RIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRG
RHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSV
HLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQ
LREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
Number of residues1011
Molecular Weight113743.26
Theoretical pINot Available
GO Classification
Functions
  • mannose binding
  • zinc ion binding
  • alpha-mannosidase activity
Processes
  • protein deglycosylation
  • mannose metabolic process
  • cellular protein modification process
  • learning or memory
Components
  • vacuolar membrane
  • extracellular space
  • lysosome
  • extracellular exosome
General FunctionZinc ion binding
Specific FunctionNecessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDO00754
UniProtKB Entry NameMA2B1_HUMAN
Cellular LocationLysosome
Gene sequence
>lcl|BSEQ0013665|Lysosomal alpha-mannosidase (MAN2B1)
ATGGGCGCCTACGCGCGGGCTTCGGGGGTCTGCGCTCGCGGCTGCCTGGACTCAGCAGGC
CCCTGGACCATGTCCCGCGCCCTGCGGCCACCGCTCCCGCCTCTCTGCTTTTTCCTTTTG
TTGCTGGCGGCTGCCGGTGCTCGGGCCGGGGGATACGAGACATGCCCCACAGTGCAGCCG
AACATGCTGAACGTGCACCTGCTGCCTCACACACATGATGACGTGGGCTGGCTCAAAACC
GTGGACCAGTACTTTTATGGAATCAAGAATGACATCCAGCACGCCGGTGTGCAGTACATC
CTGGACTCGGTCATCTCTGCCTTGCTGGCAGATCCCACCCGTCGCTTCATTTACGTGGAG
ATTGCCTTCTTCTCCCGTTGGTGGCACCAGCAGACAAATGCCACACAGGAAGTCGTGCGA
GACCTTGTGCGCCAGGGGCGCCTGGAGTTCGCCAATGGTGGCTGGGTGATGAACGATGAG
GCAGCCACCCACTACGGTGCCATCGTGGACCAGATGACACTTGGGCTGCGCTTTCTGGAG
GACACATTTGGCAATGATGGGCGACCCCGTGTGGCCTGGCACATTGACCCCTTCGGCCAC
TCTCGGGAGCAGGCCTCGCTGTTTGCGCAGATGGGCTTCGACGGCTTCTTCTTTGGGCGC
CTTGATTATCAAGATAAGTGGGTACGGATGCAGAAGCTGGAGATGGAGCAGGTGTGGCGG
GCCAGCACCAGCCTGAAGCCCCCGACCGCGGACCTCTTCACTGGTGTGCTTCCCAATGGT
TACAACCCGCCAAGGAATCTGTGCTGGGATGTGCTGTGTGTCGATCAGCCGCTGGTGGAG
GACCCTCGCAGCCCCGAGTACAACGCCAAGGAGCTGGTCGATTACTTCCTAAATGTGGCC
ACTGCCCAGGGCCGGTATTACCGCACCAACCACACTGTGATGACCATGGGCTCGGACTTC
CAATATGAGAATGCCAACATGTGGTTCAAGAACCTTGACAAGCTCATCCGGCTGGTAAAT
GCGCAGCAGGCAAAAGGAAGCAGTGTCCATGTTCTCTACTCCACCCCCGCTTGTTACCTC
TGGGAGCTGAACAAGGCCAACCTCACCTGGTCAGTGAAACATGACGACTTCTTCCCTTAC
GCGGATGGCCCCCACCAGTTCTGGACCGGTTACTTTTCCAGTCGGCCGGCCCTCAAACGC
TACGAGCGCCTCAGCTACAACTTCCTGCAGGTGTGCAACCAGCTGGAGGCGCTGGTGGGC
CTGGCGGCCAACGTGGGACCCTATGGCTCCGGAGACAGTGCACCCCTCAATGAGGCGATG
GCTGTGCTCCAGCATCACGACGCCGTCAGCGGCACCTCCCGCCAGCACGTGGCCAACGAC
TACGCGCGCCAGCTTGCGGCAGGCTGGGGGCCTTGCGAGGTTCTTCTGAGCAACGCGCTG
GCGCGGCTCAGAGGCTTCAAAGATCACTTCACCTTTTGCCAACAGCTAAACATCAGCATC
TGCCCGCTCAGCCAGACGGCGGCGCGCTTCCAGGTCATCGTTTATAATCCCCTGGGGCGG
AAGGTGAATTGGATGGTACGGCTGCCGGTCAGCGAAGGCGTTTTCGTTGTGAAGGACCCC
AATGGCAGGACAGTGCCCAGCGATGTGGTAATATTTCCCAGCTCAGACAGCCAGGCGCAC
CCTCCGGAGCTGCTGTTCTCAGCCTCACTGCCCGCCCTGGGCTTCAGCACCTATTCAGTA
GCCCAGGTGCCTCGCTGGAAGCCCCAGGCCCGCGCACCACAGCCCATCCCCAGAAGATCC
TGGTCCCCTGCTTTAACCATCGAAAATGAGCACATCCGGGCAACGTTTGATCCTGACACA
GGGCTGTTGATGGAGATTATGAACATGAATCAGCAACTCCTGCTGCCTGTTCGCCAGACC
TTCTTCTGGTACAACGCCAGTATAGGTGACAACGAAAGTGACCAGGCCTCAGGTGCCTAC
ATCTTCAGACCCAACCAACAGAAACCGCTGCCTGTGAGCCGCTGGGCTCAGATCCACCTG
GTGAAGACACCCTTGGTGCAGGAGGTGCACCAGAACTTCTCAGCTTGGTGTTCCCAGGTG
GTTCGCCTGTACCCAGGACAGCGGCACCTGGAGCTAGAGTGGTCGGTGGGGCCGATACCT
GTGGGCGACACCTGGGGGAAGGAGGTCATCAGCCGTTTTGACACACCGCTGGAGACAAAG
GGACGCTTCTACACAGACAGCAATGGCCGGGAGATCCTGGAGAGGAGGCGGGATTATCGA
CCCACCTGGAAACTGAACCAGACGGAGCCCGTGGCAGGAAACTACTATCCAGTCAACACC
CGGATTTACATCACGGATGGAAACATGCAGCTGACTGTGCTGACTGACCGCTCCCAGGGG
GGCAGCAGCCTGAGAGATGGCTCGCTGGAGCTCATGGTGCACCGAAGGCTGCTGAAGGAC
GATGGACGCGGAGTATCGGAGCCACTAATGGAGAACGGGTCGGGGGCGTGGGTGCGAGGG
CGCCACCTGGTGCTGCTGGACACAGCCCAGGCTGCAGCCGCCGGACACCGGCTCCTGGCG
GAGCAGGAGGTCCTGGCCCCTCAGGTGGTGCTGGCCCCGGGTGGCGGCGCCGCCTACAAT
CTCGGGGCTCCTCCGCGCACGCAGTTCTCAGGGCTGCGCAGGGACCTGCCGCCCTCGGTG
CACCTGCTCACGCTGGCCAGCTGGGGCCCCGAAATGGTGCTGCTGCGCTTGGAGCACCAG
TTTGCCGTAGGAGAGGATTCCGGACGTAACCTGAGCGCCCCCGTTACCTTGAACTTGAGG
GACCTGTTCTCCACCTTCACCATCACCCGCCTGCAGGAGACCACGCTGGTGGCCAACCAG
CTCCGCGAGGCAGCCTCCAGGCTCAAGTGGACAACAAACACAGGCCCCACACCCCACCAA
ACTCCGTACCAGCTGGACCCGGCCAACATCACGCTGGAACCCATGGAAATCCGCACTTTC
CTGGCCTCAGTTCAATGGAAGGAGGTGGATGGTTAG
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:6826
Chromosome Location19
LocusNot Available
References
  1. Nebes VL, Schmidt MC: Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA. Biochem Biophys Res Commun. 1994 Apr 15;200(1):239-45. 8166692
  2. Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK: alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet. 1997 May;6(5):717-26. 9158146
  3. Riise HM, Berg T, Nilssen O, Romeo G, Tollersrud OK, Ceccherini I: Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). Genomics. 1997 Jun 1;42(2):200-7. 9192839
  4. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. 15057824
  5. 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. 15489334
  6. Liao YF, Lal A, Moremen KW: Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase. J Biol Chem. 1996 Nov 8;271(45):28348-58. 8910458
  7. Emiliani C, Martino S, Stirling JL, Maras B, Orlacchio A: Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B. Biochem J. 1995 Jan 15;305 ( Pt 2):363-6. 7832746
  8. 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. 12754519
  9. 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. 19159218
  10. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  11. 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. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  12. Vaca Jacome AS, 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. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. 25944712
  13. Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T: Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Am J Hum Genet. 1998 Oct;63(4):1015-24. 9758606
  14. Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O: Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet. 1999 Jan;64(1):77-88. 9915946
  15. Olmez A, Nilssen O, Coskun T, Klenow H: Alpha-mannosidosis and mutational analysis in a Turkish patient. Turk J Pediatr. 2003 Jan-Mar;45(1):46-50. 12718372
  16. Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T: Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. Hum Mutat. 2005 Mar;25(3):320. 15712269
  17. Riise Stensland HM, Klenow HB, Van Nguyen L, Hansen GM, Malm D, Nilssen O: Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. Hum Mutat. 2012 Mar;33(3):511-20. doi: 10.1002/humu.22005. Epub 2012 Jan 23. 22161967