KEGG   Homo sapiens (human): 729920
Entry
729920            CDS       T01001                                 
Symbol
CRPPA, ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD
Name
(RefSeq) CDP-L-ribitol pyrophosphorylase A
  KO
K21031  D-ribitol-5-phosphate cytidylyltransferase [EC:2.7.7.40]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00040  Pentose and glucuronate interconversions
hsa00515  Mannose type O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00872  O-glycan biosynthesis, mannose type (core M3)
Network
nt06013  O-Glycan biosynthesis
  Element
N00698  Mannose type O-glycan biosynthesis, Rib-ol-5P to CDP-Rib-ol
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00040 Pentose and glucuronate interconversions
    729920 (CRPPA)
  09107 Glycan biosynthesis and metabolism
   00515 Mannose type O-glycan biosynthesis
    729920 (CRPPA)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.40  D-ribitol-5-phosphate cytidylyltransferase
     729920 (CRPPA)
SSDB
Motif
Pfam: ISPD_C IspD NTP_transf_3 TOP_N
Other DBs
NCBI-GeneID: 729920
NCBI-ProteinID: NP_001094896
OMIM: 614631
HGNC: 37276
Ensembl: ENSG00000214960
UniProt: A4D126
Structure
Position
7:complement(16087525..16421538)
AA seq 451 aa
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERM
GVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLV
EAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAA
GAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGH
LLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEE
SSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQ
KLQESLRQGAIIIASLIKERNSGLIGQLLIA
NT seq 1356 nt   +upstreamnt  +downstreamnt
atggaggccgggccgccgggcagcgccaggccggcggagccgggtccttgcctgagtggt
cagcgcggcgcggaccacacggcttccgcctccctgcagagcgtggccgggaccgagccc
gggcgccacccgcaagccgtggcagctgtgttgcctgccggggggtgcggggagaggatg
ggggtccccaccccgaagcaattctgccccatcctggagaggccgctcatcagctacacc
ctacaggccctggagagagtatgttggataaaggacattgttgtggcagtaactggagag
aacatggaagtaatgaaaagtattattcagaagtatcagcataaacgcatctcactggtc
gaagctggagtgacccgccacaggtcaattttcaatggactaaaagcactggcagaagat
cagatcaactctaaactctctaagccagaagtagtgattatccatgatgctgtgagacca
tttgttgaggaaggtgtccttcttaaagttgtcacagctgctaaggaacacggggcagca
ggagccattcgacctcttgtatctactgtcgtcagtccatctgctgatggttgcttagac
tactcgctagaacgtgccagacacagagcaagtgaaatgccccaagcttttctatttgat
gtgatttatgaagcatatcagcagtgtagtgactatgacttggaatttggaactgagtgt
ttgcaattggccctaaaatactgttgcactaaagccaaacttgtagaaggatcacctgac
ctctggaaggtgacctacaaacgagatctctatgcggctgaatcgattattaaggagaga
atttcccaagagatttgtgtagttatggatacagaagaagataacaaacatgtaggtcat
cttcttgaagaagtgctgaaaagtgaattaaatcatgtaaaagtcacatctgaggctctg
ggtcatgctggcagacatcttcagcaaatcatcttagatcaatgctacaattttgtttgt
gtgaatgttacaacctctgattttcaagaaacccagaagttactgagcatgcttgaagag
agtagtctttgcattttatatcctgttgttgttgtttcagttcattttcttgattttaaa
ttagtacctcccagtcagaaaatggaaaacctaatgcagattagagaatttgcaaaggaa
gtaaaagaaagaaatattttgttatatgggcttctcatatcttacccacaggatgatcag
aagctacaggagagtttaaggcaaggtgctatcattattgcttcattaatcaaggaaaga
aattctggactcattggtcagcttctgatagcatga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (3)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (7)   
   KEGG DISEASE (4)   
   OMIM (3)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (14)   
   RefSeq(nuc) (4)   
   GenBank (5)   
   EMBL (5)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (59)   

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