KEGG   Homo sapiens (human): 283209
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)
SSDB
Motif
Pfam: PGM_PMM_I PGM_PMM_II PGM_PMM_III PGM_PMM_IV
Other DBs
NCBI-GeneID: 283209
NCBI-ProteinID: NP_775853
OMIM: 611610
HGNC: 20898
Ensembl: ENSG00000165434
UniProt: Q6PCE3
LinkDB
Position
11:complement(74330316..74398433)
AA seq 622 aa
MAENTEGDLNSNLLHAPYHTGDPQLDTAIGQWLRWDKNPKTKEQIENLLRNGMNKELRDR
LCCRMTFGTAGLRSAMGAGFCYINDLTVIQSTQGMYKYLERCFSDFKQRGFVVGYDTRGQ
VTSSCSSQRLAKLTAAVLLAKDVPVYLFSRYVPTPFVPYAVQKLKAVAGVMITASHNRKE
DNGYKVYWETGAQITSPHDKEILKCIEECVEPWNGSWNDNLVDTSPLKRDPLQDICRRYM
EDLKKICFYRELNSKTTLKFVHTSFHGVGHDYVQLAFKVFGFKPPIPVPEQKDPDPDFST
VKCPNPEEGESVLELSLRLAEKENARVVLATDPDADRLAAAELQENGCWKVFTGNELAAL
FGWWMFDCWKKNKSRNADVKNVYMLATTVSSKILKAIALKEGFHFEETLPGFKWIGSRII
DLLENGKEVLFAFEESIGFLCGTSVLDKDGVSAAVVVAEMASYLETMNITLKQQLVKVYE
KYGYHISKTSYFLCYEPPTIKSIFERLRNFDSPKEYPKFCGTFAILHVRDVTTGYDSSQP
NKKSVLPVSKNSQMITFTFQNGCVATLRTSGTEPKIKYYAEMCASPDQSDTALLEEELKK
LIDALIENFLQPSKNGLIWRSV
NT seq 1869 nt   +upstreamnt  +downstreamnt
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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