Homo sapiens (human): 4125
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_hydro_38N
Glyco_hydro_38C
Alpha-mann_mid
Glyco_hydro38C2
Laman-like_dom
Motif
Other DBs
NCBI-GeneID:
4125
NCBI-ProteinID:
NP_000519
OMIM:
609458
HGNC:
6826
Ensembl:
ENSG00000104774
UniProt:
O00754
LinkDB
All DBs
Position
19:complement(12646512..12666742)
Genome browser
AA seq
1011 aa
AA seq
DB search
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQP
NMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVE
IAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLE
DTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVA
TAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYL
WELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVG
LAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNAL
ARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDP
NGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRS
WSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAY
IFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIP
VGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNT
RIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRG
RHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSV
HLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQ
LREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
NT seq
3036 nt
NT seq
+upstream
nt +downstream
nt
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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