Homo sapiens (human): 283209
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Entry
283209 CDS
T01001
Symbol
PGM2L1, BM32A, NEDHFS, PMMLP
Name
(RefSeq) phosphoglucomutase 2 like 1
KO
K11809
glucose-1,6-bisphosphate synthase [EC:
2.7.1.106
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00500
Starch and sucrose metabolism
hsa01100
Metabolic pathways
Disease
H02397
Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00500 Starch and sucrose metabolism
283209 (PGM2L1)
Enzymes [BR:
hsa01000
]
2. Transferases
2.7 Transferring phosphorus-containing groups
2.7.1 Phosphotransferases with an alcohol group as acceptor
2.7.1.106 glucose-1,6-bisphosphate synthase
283209 (PGM2L1)
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Motif
Pfam:
PGM_PMM_I
PGM_PMM_II
PGM_PMM_III
PGM_PMM_IV
Motif
Other DBs
NCBI-GeneID:
283209
NCBI-ProteinID:
NP_775853
OMIM:
611610
HGNC:
20898
Ensembl:
ENSG00000165434
UniProt:
Q6PCE3
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Position
11:complement(74330316..74398433)
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AA seq
622 aa
AA seq
DB search
MAENTEGDLNSNLLHAPYHTGDPQLDTAIGQWLRWDKNPKTKEQIENLLRNGMNKELRDR
LCCRMTFGTAGLRSAMGAGFCYINDLTVIQSTQGMYKYLERCFSDFKQRGFVVGYDTRGQ
VTSSCSSQRLAKLTAAVLLAKDVPVYLFSRYVPTPFVPYAVQKLKAVAGVMITASHNRKE
DNGYKVYWETGAQITSPHDKEILKCIEECVEPWNGSWNDNLVDTSPLKRDPLQDICRRYM
EDLKKICFYRELNSKTTLKFVHTSFHGVGHDYVQLAFKVFGFKPPIPVPEQKDPDPDFST
VKCPNPEEGESVLELSLRLAEKENARVVLATDPDADRLAAAELQENGCWKVFTGNELAAL
FGWWMFDCWKKNKSRNADVKNVYMLATTVSSKILKAIALKEGFHFEETLPGFKWIGSRII
DLLENGKEVLFAFEESIGFLCGTSVLDKDGVSAAVVVAEMASYLETMNITLKQQLVKVYE
KYGYHISKTSYFLCYEPPTIKSIFERLRNFDSPKEYPKFCGTFAILHVRDVTTGYDSSQP
NKKSVLPVSKNSQMITFTFQNGCVATLRTSGTEPKIKYYAEMCASPDQSDTALLEEELKK
LIDALIENFLQPSKNGLIWRSV
NT seq
1869 nt
NT seq
+upstream
nt +downstream
nt
atggctgaaaacacagagggggatctgaactccaacctgctccacgccccctaccacacc
ggggaccctcagctggacacggccatcgggcagtggctccgctgggataagaatcccaaa
acaaaagagcagattgaaaacctgttacggaatgggatgaacaaggagctgcgagatcgt
ctttgttgccgaatgacttttgggactgcaggacttcgttctgccatgggggcagggttt
tgctatattaatgaccttacagtaatacagtcaacacaggggatgtacaaataccttgag
agatgtttctcagacttcaagcagagaggctttgtggttgggtatgacactcggggtcaa
gtaactagcagctgcagcagccagaggcttgctaaactcactgctgcagtcttgctggcc
aaagatgttcctgtgtaccttttttcaagatatgttcctacaccttttgtaccatatgca
gttcagaagctcaaagcagttgcaggtgtgatgattactgcctctcacaaccgcaaggaa
gacaatggatacaaggtttactgggaaactggtgctcagatcacatctcctcatgataaa
gaaattctaaaatgtatagaagaatgtgtggaaccctggaatggttcctggaatgataat
ttagtggataccagcccgctgaagagagaccctctgcaggacatttgcaggagatacatg
gaagatctgaaaaagatctgtttttacagggagttaaactcgaagaccaccttgaaattt
gtgcacacatcttttcatggggtcggacatgactatgtgcagttggcttttaaagtgttt
ggttttaagcctccaattccagtaccagaacaaaaagatcctgatccagacttttctacc
gttaaatgtccaaatcctgaagaaggagaatctgtgctggaactttccttgagactggca
gagaaagaaaatgcccgggtagtgctagccacagatcctgatgcagacagactggcagca
gcagaacttcaggagaatggttgttggaaagttttcacagggaatgagttggcagctttg
tttggatggtggatgtttgattgctggaagaaaaataaatcaagaaatgctgatgtgaag
aacgtttatatgttagccaccacagtctcttctaaaattctgaaggcaattgcacttaaa
gaaggatttcattttgaagaaacattaccaggttttaaatggattggaagtaggataata
gacctcctggaaaatgggaaagaagtcctttttgcatttgaagagtctattggttttctc
tgtggaacttcagttttggataaagatggggtgagtgcagctgttgtggttgctgagatg
gcatcttacctggaaaccatgaatataacattgaaacagcaactggttaaggtttatgaa
aaatatggttatcatatttcaaaaacttcctatttcttgtgttatgaaccacctaccatc
aaaagtatatttgaaaggcttcgtaattttgattctccaaaagaatatccaaaattttgt
ggaacatttgctatattgcatgtacgggacgttaccactggatatgacagtagccagcct
aataagaaatcagtgctgcctgtgagtaaaaacagccaaatgattacatttacttttcaa
aatggctgtgttgctacccttcggacaagtggaacagaaccaaagataaagtattatgca
gagatgtgtgcgtcacctgaccagagtgacactgctttactggaggaagaactgaagaaa
ctcattgatgctctgatagagaattttcttcagcctagtaagaatggactgatctggcgt
tctgtttag
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