KEGG   Homo sapiens (human): 199857
Entry
199857            CDS       T01001                                 

Gene name
ALG14, CMS15, IDDEBF, MEPCA
Definition
(RefSeq) ALG14 UDP-N-acetylglucosaminyltransferase subunit
  KO
K07441  beta-1,4-N-acetylglucosaminyltransferase [EC:2.4.1.141]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00510  N-Glycan biosynthesis
hsa00513  Various types of N-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00055  N-glycan precursor biosynthesis
Network
nt06015  N-Glycan biosynthesis
  Element
N00653  N-Glycan precursor biosynthesis, ALG7 to ALG11
N00662  ALG11 deficiency in N-glycan precursor biosynthesis
N00663  ALG2 deficiency in N-glycan precursor biosynthesis
N00664  ALG1 deficiency in N-glycan precursor biosynthesis
Disease
H00770  Congenital myasthenic syndrome
H02463  Syndromic intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00510 N-Glycan biosynthesis
    199857 (ALG14)
   00513 Various types of N-glycan biosynthesis
    199857 (ALG14)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    199857 (ALG14)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.141  N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
     199857 (ALG14)
Glycosyltransferases [BR:hsa01003]
 N-Glycan biosynthesis
  Dol-linked oligosaccharide
   199857 (ALG14)
SSDB
Motif
Pfam: Alg14
Other DBs
NCBI-GeneID: 199857
NCBI-ProteinID: NP_659425
OMIM: 612866
HGNC: 28287
Ensembl: ENSG00000172339
Vega: OTTHUMG00000010781
Pharos: Q96F25(Tdark)
UniProt: Q96F25
Position
1p21.3
AA seq 216 aa
MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLS
NAYSPRHYVIADTDEMSANKINSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVF
TTLHSMWLSFPLIHRVKPDLVLCNGPGTCVPICVSALLLGILGIKKVIIVYVESICRVET
LSMSGKILFHLSDYFIVQWPALKEKYPKSVYLGRIV
NT seq 651 nt   +upstreamnt  +downstreamnt
atggtgtgcgttctcgttctagctgcggccgcaggagctgtggcggttttcctaatcctg
cgaatatgggtagtgcttcgttccatggacgttacgccccgggagtctctcagtatcttg
gtagtggctgggtccggtgggcataccactgagatcctgaggctgcttgggagcttgtcc
aatgcctactcacctagacattatgtcattgctgacactgatgaaatgagtgccaataaa
ataaattcttttgaactagatcgagctgatagagaccctagtaacatgtataccaaatac
tacattcaccgaattccaagaagccgggaggttcagcagtcctggccctccaccgttttc
accaccttgcactccatgtggctctcctttcccctaattcacagggtgaagccagatttg
gtgttgtgtaacggaccaggaacatgtgttcctatctgtgtatctgcccttctccttggg
atactaggaataaagaaagtgatcattgtctacgttgaaagcatctgccgtgtagaaacg
ttatccatgtccggaaagattctgtttcatctctcagattacttcattgttcagtggccg
gctctgaaagaaaagtatcccaaatcggtgtaccttgggcgaattgtttga

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