Homo sapiens (human): 729920
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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)
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SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
ISPD_C
IspD
NTP_transf_3
TOP_N
Motif
Other DBs
NCBI-GeneID:
729920
NCBI-ProteinID:
NP_001094896
OMIM:
614631
HGNC:
37276
Ensembl:
ENSG00000214960
UniProt:
A4D126
Structure
PDB
LinkDB
All DBs
Position
7:complement(16087525..16421538)
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AA seq
451 aa
AA seq
DB search
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERM
GVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLV
EAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAA
GAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGH
LLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEE
SSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQ
KLQESLRQGAIIIASLIKERNSGLIGQLLIA
NT seq
1356 nt
NT seq
+upstream
nt +downstream
nt
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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