KEGG   Homo sapiens (human): 4125
Entry
4125              CDS       T01001                                 
Symbol
MAN2B1, LAMAN, MANB
Name
(RefSeq) mannosidase alpha class 2B member 1
  KO
K12311  lysosomal alpha-mannosidase [EC:3.2.1.24]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00511  Other glycan degradation
hsa04142  Lysosome
Disease
H00139  alpha-Mannosidosis
H00422  Glycoproteinoses
Drug target
Velmanase alfa: D11024<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00511 Other glycan degradation
    4125 (MAN2B1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    4125 (MAN2B1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.24  alpha-mannosidase
     4125 (MAN2B1)
SSDB
Motif
Pfam: Glyco_hydro_38N Glyco_hydro_38C Alpha-mann_mid Laman-like_dom Glyco_hydro38C2
Other DBs
NCBI-GeneID: 4125
NCBI-ProteinID: NP_000519
OMIM: 609458
HGNC: 6826
Ensembl: ENSG00000104774
UniProt: O00754
Position
19:complement(12646512..12666742)
AA seq 1011 aa
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQP
NMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVE
IAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLE
DTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVA
TAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYL
WELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVG
LAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNAL
ARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDP
NGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRS
WSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAY
IFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIP
VGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNT
RIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRG
RHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSV
HLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQ
LREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
NT seq 3036 nt   +upstreamnt  +downstreamnt
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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Chemical substance (2)   
   KEGG COMPOUND (2)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (43)   
   KEGG ORTHOLOGY (1)   
   RefGene (27)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (38)   
   RefSeq(nuc) (6)   
   GenBank (16)   
   EMBL (16)   
Protein domain (5)   
   Pfam (5)   
All databases (109)   

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