KEGG   Homo sapiens (human): 29925
Entry
29925             CDS       T01001                                 
Symbol
GMPPB, LGMDR19, MDDGA14, MDDGB14, MDDGC14
Name
(RefSeq) GDP-mannose pyrophosphorylase B
  KO
K00966  mannose-1-phosphate guanylyltransferase [EC:2.7.7.13]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00051  Fructose and mannose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
hsa01250  Biosynthesis of nucleotide sugars
Network
nt06015  N-Glycan biosynthesis
  Element
N00667  N-Glycan precursor biosynthesis, Glc-6P to Man-P-Dol
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H01960  Muscular dystrophy-dystroglycanopathy type B
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00051 Fructose and mannose metabolism
    29925 (GMPPB)
   00520 Amino sugar and nucleotide sugar metabolism
    29925 (GMPPB)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.13  mannose-1-phosphate guanylyltransferase
     29925 (GMPPB)
SSDB
Motif
Pfam: NTP_transferase Hexapep NTP_transf_3 IspD Hexapep_2 Fucokinase
Other DBs
NCBI-GeneID: 29925
NCBI-ProteinID: NP_068806
OMIM: 615320
HGNC: 22932
Ensembl: ENSG00000173540
UniProt: Q9Y5P6
Structure
Position
3:complement(49719916..49723951)
AA seq 360 aa
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVL
EKEMKAQEQRLGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAM
VQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSP
AVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSH
SWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM
NT seq 1083 nt   +upstreamnt  +downstreamnt
atgaaggcactgatcttagtggggggctatgggacgcggctacggccgctgacgctgagc
accccgaagccactggtggacttctgcaataagcccatcttgctgcaccaagtggaggcg
ctagccgcggcaggcgtggaccacgtgatcctggccgtgagctacatgtcgcaggtgctg
gagaaggaaatgaaggcacaggagcagaggctgggaatccgaatctccatgtcccatgaa
gaggagcctttggggacagctgggcccctggcgctggcccgtgacctactctctgagact
gcagaccctttcttcgtcctcaacagtgacgtgatctgcgatttccccttccaagccatg
gtgcagttccaccggcaccatggccaggagggctccatcctggtgaccaaggtggaggaa
ccctccaagtacggtgtggtggtgtgtgaggctgacacaggccgcattcaccggttcgtg
gagaagccacaggtgtttgtgtccaataagatcaacgcaggcatgtacatcctgagccct
gcagtgctgcagcgcatccagctgcagcctacgtccattgagaaggaggtcttccccatt
atggccaaggaggggcagctatatgccatggagttacagggcttctggatggacattggg
cagcccaaggacttcctcactggcatgtgcctcttcctgcagtcactgaggcagaagcag
cctgagcggctgtgctcaggccctggcattgtgggcaacgtgctggtggacccaagtgcc
cgcatcggccagaactgcagcattggccccaatgtgagcctgggacctggcgtggtggtc
gaagatggtgtgtgtatccggcggtgcacggtgctgcgggatgcccggatccgttcccat
tcctggcttgagtcctgcattgtgggctggcgctgccgcgtgggtcagtgggtacgcatg
gagaacgtgacagtgctgggtgaggacgtcatagttaatgatgagctctacctcaacgga
gccagcgtgctgccccacaagtctattggcgagtcagtgccagagcctcgtatcatcatg
tga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (6)   
   KEGG PATHWAY (5)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (9)   
   KEGG DISEASE (5)   
   OMIM (4)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (16)   
   RefSeq(nuc) (2)   
   GenBank (7)   
   EMBL (7)   
3D Structure (3)   
   PDB (3)   
Protein domain (6)   
   Pfam (6)   
All databases (69)   

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