KEGG   Homo sapiens (human): 79053
Entry
79053             CDS       T01001                                 

Gene name
ALG8, CDG1H, PCLD3
Definition
(RefSeq) ALG8 alpha-1,3-glucosyltransferase
  KO
K03849  alpha-1,3-glucosyltransferase [EC:2.4.1.265]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00510  N-Glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00055  N-glycan precursor biosynthesis
Network
nt06015  N-Glycan biosynthesis
  Element
N00654  STT3A deficiency in N-glycan precursor biosynthesis
N00655  STT3B deficiency in N-glycan precursor biosynthesis
N00656  DDOST deficiency in N-glycan precursor biosynthesis
N00657  ALG8 deficiency in N-glycan precursor biosynthesis
N00681  N-Glycan precursor biosynthesis, ALG6 to OST
Disease
H00118  Congenital disorders of glycosylation type I
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00510 N-Glycan biosynthesis
    79053 (ALG8)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    79053 (ALG8)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.265  dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase
     79053 (ALG8)
Glycosyltransferases [BR:hsa01003]
 N-Glycan biosynthesis
  Dol-linked oligosaccharide
   79053 (ALG8)
SSDB
Motif
Pfam: Alg6_Alg8
Other DBs
NCBI-GeneID: 79053
NCBI-ProteinID: NP_076984
OMIM: 608103
HGNC: 23161
Ensembl: ENSG00000159063
Vega: OTTHUMG00000166594
Pharos: Q9BVK2(Tbio)
UniProt: Q9BVK2 A0A024R5K5
Position
11q14.1
AA seq 526 aa
MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEAT
SEWTLDYPPFFAWFEYILSHVAKYFDQEMLNVHNLNYSSSRTLLFQRFSVIFMDVLFVYA
VRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARL
FQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVIS
LGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIG
LKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPR
GFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPL
LFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPF
TSWKVKYPFIPLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKKQ
NT seq 1581 nt   +upstreamnt  +downstreamnt
atggcggcgctcacaattgccacgggtactggcaattggttttcggctttggcgctcggg
gtgactcttctcaaatgccttctcatccccacataccattccacagattttgaagtacac
cgaaactggcttgctatcactcacagtttgccaatatcacagtggtattatgaggcaact
tcagagtggacgttggattacccccctttctttgcatggtttgagtatatcctgtcacat
gttgccaaatattttgatcaagaaatgctgaatgtccataatttgaattactccagctca
aggaccttacttttccagagattttccgtcatctttatggatgtactctttgtgtatgct
gtccgtgagtgctgtaaatgcattgatggaaaaaaagtgggtaaagaacttacagaaaag
ccaaaatttattctgtcggtattacttctgtggaacttcgggttattaattgtggaccat
attcattttcagtacaatggctttttatttggattaatgctactctccattgcacgatta
tttcagaaaaggcatatggaaggagcatttctctttgctgttctcctacatttcaagcat
atctacctctatgtagcaccagcttatggtgtatatctgctgcgatcctactgtttcact
gcaaataaaccagatgggtctattcgatggaagagtttcagctttgttcgtgttatttcc
ctgggactggttgttttcttagtttctgctctttcattgggtcctttcctggccttgaat
cagctgcctcaagtcttttcccgactctttcctttcaagaggggcctctgtcatgcatat
tgggctccaaacttctgggctttgtacaatgctttggacaaagtgctgtctgtcatcggt
ttgaaattgaaatttcttgatcccaacaatattcccaaggcctcaatgacaagtggtttg
gttcagcagttccaacacacagtccttccctcagtgactcccttggcaaccctcatctgc
acactgattgccatattgccctctattttctgtctttggtttaaaccccaagggcccaga
ggctttctccgatgtctaactctttgtgccttgagctcctttatgtttgggtggcatgtt
catgaaaaagccatacttctagcaattctcccaatgagccttttgtctgtgggaaaagca
ggagacgcttcgatttttctgattctgaccacaacaggacattattccctctttcctctg
ctcttcactgcaccagaacttcccattaaaatcttactcatgttactattcaccatatat
agtatttcgtcactgaagactttattcagaaaagaaaaacctctttttaattggatggaa
actttctacctgcttggcctggggcctctggaagtctgctgtgaatttgtattccctttc
acctcctggaaggtgaagtaccccttcatccctttgttactaacctcagtgtattgtgca
gtaggcatcacatatgcttggttcaaactgtatgtttcagtattgattgactctgctatt
ggcaagacaaagaaacaatga

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (2)   
   KEGG MODULE (1)   
Network (5)   
   KEGG NETWORK (5)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (8)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (34)   
   RefSeq(nuc) (10)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (78)   

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