Homo sapiens (human): 84842
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Entry
84842 CDS
T01001
Symbol
HPDL, 4-HPPD-L, GLOXD1, NEDSWMA, SPG83
Name
(RefSeq) 4-hydroxyphenylpyruvate dioxygenase like
KO
K24788
4-hydroxyphenylpyruvate dioxygenase-like protein [EC:1.13.-.-]
Organism
hsa
Homo sapiens (human)
Disease
H00266
Hereditary spastic paraplegia
H01097
Spastic quadriplegic cerebral palsy
H02470
Neurodevelopmental disorder with structural brain abnormalities
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09191 Unclassified: metabolism
99980 Enzymes with EC numbers
84842 (HPDL)
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Gene cluster
GFIT
Motif
Pfam:
Glyoxalase
Glyoxalase_4
Motif
Other DBs
NCBI-GeneID:
84842
NCBI-ProteinID:
NP_116145
OMIM:
618994
HGNC:
28242
Ensembl:
ENSG00000186603
UniProt:
Q96IR7
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All DBs
Position
1:45326895..45328710
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AA seq
371 aa
AA seq
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MAAPALRLCHIAFHVPAGQPLARNLQRLFGFQPLASREVDGWRQLALRSGDAVFLVNEGA
GSGEPLYGLDPRHAVPSATNLCFDVADAGAATRELAALGCSVPVPPVRVRDAQGAATYAV
VSSPAGILSLTLLERAGYRGPFLPGFRPVSSAPGPGWVSRVDHLTLACTPGSSPTLLRWF
HDCLGFCHLPLSPGEDPELGLEMTAGFGLGGLRLTALQAQPGSIVPTLVLAESLPGATTR
QDQVEQFLARHKGPGLQHVGLYTPNIVEATEGVATAGGQFLAPPGAYYQQPGKERQIRAA
GHEPHLLARQGILLDGDKGKFLLQVFTKSLFTEDTFFLELIQRQGATGFGQGNIRALWQS
VQEQSARSQEA
NT seq
1116 nt
NT seq
+upstream
nt +downstream
nt
atggccgcgcccgcccttcgtttgtgccacatcgccttccacgtgcccgccgggcagccc
ctagcccggaacctgcagcgcctcttcggcttccagcccctggcttcgcgggaggtggac
ggctggcggcagctagccctgcgcagcggcgacgcggtctttttggtgaacgagggcgca
gggtctggagagccgctgtacggcctggatccgcgtcacgccgtgcccagcgccacaaac
ctgtgcttcgacgtggcggacgccggcgctgcaacccgggagctggcagcgctgggctgc
agcgtgcctgtccctcccgttcgcgtgcgggacgcgcagggtgccgccacttacgccgtg
gtcagctcgcctgccggcatcctcagcctgaccttgctggagcgcgctggctaccgcgga
cccttcctacccggcttcaggcccgtgtcctctgcgcctggccccgggtgggtcagccgc
gtggaccacctgaccttggcctgcacccccggcagctcccccacacttttgcgctggttc
cacgactgcctgggcttttgccacttgccgctgagcccaggtgaggatcccgagctgggc
ctcgaaatgacagcagggtttgggcttgggggactgaggcttacagccctgcaggcccag
ccgggcagcattgtccccactcttgttctggctgagtcccttccgggggcgacgacacga
caggaccaggtggagcagttcctggcccggcacaaggggccaggcctgcagcacgtgggg
ctgtatacgcctaacattgtggaggccactgagggggtggcaactgctggaggccagttc
ctggctccccctggggcatactaccagcagccaggaaaggagaggcagatccgagctgca
gggcacgagcctcatctgcttgctcgacaggggatcctgctagatggtgataaaggcaag
tttctgcttcaggtcttcaccaagtccctttttactgaggacactttcttcctggagctg
attcagaggcagggggccactggctttggtcagggcaacatcagagctctgtggcagtcc
gtacaggagcaatctgccaggagccaggaagcctaa
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