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Protein Page:
MAN2B1 (human)

Overview
MAN2B1 Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM). AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities. Belongs to the glycosyl hydrolase 38 family. Note: This description may include information from UniProtKB.
Protein type: Hydrolase; Glycan Metabolism - other glycan degradation; EC 3.2.1.24
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component: extracellular space; lysosomal lumen
Molecular Function: alpha-mannosidase activity
Biological Process: mannose metabolic process; oligosaccharide catabolic process; protein deglycosylation; protein modification process
Disease: Mannosidosis, Alpha B, Lysosomal
Reference #:  O00754 (UniProtKB)
Alt. Names/Synonyms: LAMAN; Lysosomal acid alpha-mannosidase; Lysosomal alpha-mannosidase; Lysosomal alpha-mannosidase A peptide; Lysosomal alpha-mannosidase B peptide; Lysosomal alpha-mannosidase C peptide; Lysosomal alpha-mannosidase D peptide; Lysosomal alpha-mannosidase E peptide; MA2B1; MAN2B1; MANB; Mannosidase alpha class 2B member 1; Mannosidase alpha-B; mannosidase, alpha B, lysosomal; mannosidase, alpha, class 2B, member 1
Gene Symbols: MAN2B1
Molecular weight: 113,744 Da
Basal Isoelectric point: 6.84  Predict pI for various phosphorylation states
Select Structure to View Below

MAN2B1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment



 LTP 

LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 HTP 

HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 Y118‑p DPTRRFIyVEIAFFS
0 1 Y223 FFFGRLDYQDKWVRM
0 1 Y295‑p NAKELVDyFLNVAtA
0 1 T301‑p DyFLNVAtAQGRYYR
0 1 S347 NAQQAKGSSVHVLYS
0 1 S348 AQQAKGSSVHVLYST
0 1 S450‑p LQHHDAVsGTSRQHV
0 1 Y644 VRQTFFWYNASIGDN
0 1 Y704‑p CSQVVRLyPGQRHLE
0 1 S715‑p RHLELEWsVGPIPVG
0 1 S731‑p TWGKEVIsRFDTPLE
0 1 T785 VNTRIYITDGNMQLT
0 1 T904‑p PPSVHLLtLAsWGPE
0 1 S907‑p VHLLtLAsWGPEMVL
0 1 T936‑p RNLSAPVtLNLRDLF
0 1 T954‑p TITRLQEttLVANQL
0 1 T955‑p ITRLQEttLVANQLR
  MAN2B1 iso2  
Y118 DPTRRFIYVEIAFFS
Y223 FFFGRLDYQDKWVRM
Y295 NAKELVDYFLNVATA
T301 DYFLNVATAQGRYYR
S346‑p VNAQAKGssVHVLYS
S347‑p NAQAKGssVHVLYST
S449 LQHHDAVSGTSRQHV
Y643 VRQTFFWYNASIGDN
Y703 CSQVVRLYPGQRHLE
S714 RHLELEWSVGPIPVG
S730 TWGKEVISRFDTPLE
T784 VNTRIYITDGNMQLT
T903 PPSVHLLTLASWGPE
S906 VHLLTLASWGPEMVL
T935 RNLSAPVTLNLRDLF
T953 TITRLQETTLVANQL
T954 ITRLQETTLVANQLR
  mouse

 
Y118 KPTRRFIYVEMAFFS
Y223‑p FFLGRIDyQDKLNRK
Y295 NAKTLVNYFLKLASS
S301 NYFLKLASSQKGFYR
S347 NAQQVNGSLVHVLYS
L348 AQQVNGSLVHVLYST
S450 LQHHDAVSGTARQNV
Y645‑p VSQGFFWyNASVGDE
Y705 CSQVIRLYKGQRHLE
T716 RHLELEWTVGPIPVR
S732 DWGKEVISRFDTPMK
T786‑p VNTRIYItDGQMQLT
T905 PPQVHLLTLARWGPK
R908 VHLLTLARWGPKMLL
T937 RNLSSPVTLNVQNLF
T955 TINYLQETTLAANQP
T956 INYLQETTLAANQPL
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