KEGG   Homo sapiens (human): 85365Help
Entry
85365             CDS       T01001                                 

Gene name
ALG2, CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2
Definition
(RefSeq) ALG2, alpha-1,3/1,6-mannosyltransferase
  KO
K03843  alpha-1,3/alpha-1,6-mannosyltransferase [EC:2.4.1.132 2.4.1.257]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00510  N-Glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00055  N-glycan precursor biosynthesis
Disease
H00118  Congenital disorders of glycosylation (CDG) type I
H00770  Congenital myasthenic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00510 N-Glycan biosynthesis
    85365 (ALG2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.132  GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase
     85365 (ALG2)
    2.4.1.257  GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase
     85365 (ALG2)
Glycosyltransferases [BR:hsa01003]
 N-Glycan biosynthesis
  Dol-linked oligosaccharide
   85365 (ALG2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glycos_transf_1 Glyco_trans_1_4 Glyco_transf_4 Glyco_trans_4_4 Glyco_trans_1_2
Motif
Other DBs
NCBI-GeneID: 85365
NCBI-ProteinID: NP_149078
OMIM: 607905
HGNC: 23159
Ensembl: ENSG00000119523
Vega: OTTHUMG00000020355
Pharos: Q9H553(Tbio)
UniProt: Q9H553 A0A024R184
LinkDB All DBs
Position
9q22.33
AA seq 416 aa AA seqDB search
MAEEQGRERDSVPKPSVLFLHPDLGVGGAERLVLDAALALQARGCSVKIWTAHYDPGHCF
AESRELPVRCAGDWLPRGLGWGGRGAAVCAYVRMVFLALYVLFLADEEFDVVVCDQVSAC
IPVFRLARRRKKILFYCHFPDLLLTKRDSFLKRLYRAPIDWIEEYTTGMADCILVNSQFT
AAVFKETFKSLSHIDPDVLYPSLNVTSFDSVVPEKLDDLVPKGKKFLLLSINRYERKKNL
TLALEALVQLRGRLTSQDWERVHLIVAGGYDERVLENVEHYQELKKMVQQSDLGQYVTFL
RSFSDKQKISLLHSCTCVLYTPSNEHFGIVPLEAMYMQCPVIAVNSGGPLESIDHSVTGF
LCEPDPVHFSEAIEKFIREPSLKATMGLAGRARVKEKFSPEAFTEQLYRYVTKLLV
NT seq 1251 nt NT seq  +upstreamnt  +downstreamnt
atggcggaggagcagggccgggaacgggactcggttcccaagccgtcggtgctgttcctc
cacccagacctgggcgtgggcggcgctgagcggctggtgttggacgcggcgctggcgctg
caggcgcgcgggtgtagcgtgaagatctggacagcgcactacgacccgggccactgtttc
gccgagagccgcgagctaccggtgcgctgtgccggggactggctgccgcgaggcctgggc
tggggcggccgcggcgccgccgtctgcgcctacgtgcgcatggttttcctggcgctctac
gtgctgttcctcgccgacgaggagttcgacgtggtagtgtgcgaccaggtgtctgcctgt
atcccagtgttcaggctggctagacggcggaagaagatcctattttactgtcacttccca
gatctgcttctcaccaagagagattcttttcttaaacgactatacagggccccaattgac
tggatagaggaatacaccacaggcatggcagactgcatcttagtcaacagccagttcaca
gctgctgtttttaaggaaacattcaagtccctgtctcacatagaccctgatgtcctctat
ccatctctaaatgtcaccagctttgactcagttgttcctgaaaagctggatgacctagtc
cccaaggggaaaaaattcctgctgctctccatcaacagatacgaaaggaagaaaaatctg
actttggcactggaagccctagtacagctgcgtggaagattgacatcccaagattgggag
agggttcatctgatcgtggcaggtggttatgacgagagagtcctggagaatgtggaacat
tatcaggaattgaagaaaatggtccaacagtccgaccttggccagtatgtgaccttcttg
aggtctttctcagacaaacagaaaatctccctcctccacagctgcacgtgtgtgctttac
acaccaagcaatgagcactttggcattgtccctctggaagccatgtacatgcagtgccca
gtcattgctgttaattcgggtggacccttggagtccattgaccacagtgtcacagggttt
ctgtgtgagcctgacccggtgcacttctcagaagcaatagaaaagttcatccgtgaacct
tccttaaaagccaccatgggcctggctggaagagccagagtgaaggaaaaattttcccct
gaagcatttacagaacagctctaccgatatgttaccaaactgctggtataa

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