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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (3)   
   KEGG MODULE (1)   
Network (4)   
   KEGG NETWORK (4)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (16)   
   RefSeq(nuc) (8)   
   GenBank (4)   
   EMBL (4)   
Protein domain (1)   
   Pfam (1)   
All databases (55)   

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