KEGG   Homo sapiens (human): 29925
Entry
29925             CDS       T01001                                 

Gene name
GMPPB, LGMDR19, MDDGA14, MDDGB14, MDDGC14
Definition
(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
Network
nt06015  N-Glycan biosynthesis
  Element
N00667  N-Glycan precursor biosynthesis, Glc-6P to Man-P-Dol
N00668  DPM1 deficiency in N-glycan precursor biosynthesis
N00669  DPM2 deficiency in N-glycan precursor biosynthesis
N00670  DPM3 deficiency in N-glycan precursor biosynthesis
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 Hexapep_2 IspD
Other DBs
NCBI-GeneID: 29925
NCBI-ProteinID: NP_068806
OMIM: 615320
HGNC: 22932
Ensembl: ENSG00000173540
Vega: OTTHUMG00000158151
Pharos: Q9Y5P6(Tbio)
UniProt: Q9Y5P6
Position
3p21.31
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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