Homo sapiens (human): 3704
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Entry
3704 CDS
T01001
Symbol
ITPA, C20orf37, DEE35, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
Name
(RefSeq) inosine triphosphatase
KO
K01519
XTP/dITP diphosphohydrolase [EC:
3.6.1.66
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00230
Purine metabolism
hsa00983
Drug metabolism - other enzymes
hsa01100
Metabolic pathways
hsa01232
Nucleotide metabolism
Disease
H00606
Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09104 Nucleotide metabolism
00230 Purine metabolism
3704 (ITPA)
09111 Xenobiotics biodegradation and metabolism
00983 Drug metabolism - other enzymes
3704 (ITPA)
Enzymes [BR:
hsa01000
]
3. Hydrolases
3.6 Acting on acid anhydrides
3.6.1 In phosphorus-containing anhydrides
3.6.1.66 XTP/dITP diphosphatase
3704 (ITPA)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Ham1p_like
Motif
Other DBs
NCBI-GeneID:
3704
NCBI-ProteinID:
NP_258412
OMIM:
147520
HGNC:
6176
Ensembl:
ENSG00000125877
UniProt:
Q9BY32
A0A0S2Z3W7
Structure
PDB
PDBj
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All DBs
Position
20:3204065..3227449
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AA seq
194 aa
AA seq
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MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEA
VRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFAL
STGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFR
ALLELQEYFGSLAA
NT seq
585 nt
NT seq
+upstream
nt +downstream
nt
atggcggcctcattggtggggaagaagatcgtgtttgtaacggggaacgccaagaagctg
gaggaggtcgttcagattctaggagataagtttccatgcactttggtggcacagaaaatt
gacctgccggagtaccagggggagccggatgagatttccatacagaaatgtcaggaggca
gttcgccaggtacaggggcccgtgctggttgaggacacttgtctgtgcttcaatgccctt
ggagggctccccggcccctacataaagtggtttctggagaagttaaagcctgaaggtctc
caccagctcctggccgggttcgaggacaagtcagcctatgcgctctgcacgtttgcactc
agcaccggggacccaagccagcccgtgcgcctgttcaggggccggacctcgggccggatc
gtggcacccagaggctgccaggactttggctgggacccctgctttcagcctgatggatat
gagcagacgtacgcagagatgcctaaggcggagaagaacgctgtctcccatcgcttccgg
gccctgctggagctgcaggagtactttggcagtttggcagcttga
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