Homo sapiens (human): 471
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Entry
471 CDS
T01001
Symbol
ATIC, AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH
Name
(RefSeq) 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
KO
K00602
phosphoribosylaminoimidazolecarboxamide formyltransferase / IMP cyclohydrolase [EC:
2.1.2.3
3.5.4.10
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00230
Purine metabolism
hsa00670
One carbon pool by folate
hsa01100
Metabolic pathways
hsa01523
Antifolate resistance
Module
hsa_M00048
De novo purine biosynthesis, PRPP + glutamine => IMP
Disease
H00966
AICA-ribosiduria
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09104 Nucleotide metabolism
00230 Purine metabolism
471 (ATIC)
09108 Metabolism of cofactors and vitamins
00670 One carbon pool by folate
471 (ATIC)
09160 Human Diseases
09176 Drug resistance: antineoplastic
01523 Antifolate resistance
471 (ATIC)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04147 Exosome [BR:
hsa04147
]
471 (ATIC)
Enzymes [BR:
hsa01000
]
2. Transferases
2.1 Transferring one-carbon groups
2.1.2 Hydroxymethyl-, formyl- and related transferases
2.1.2.3 phosphoribosylaminoimidazolecarboxamide formyltransferase
471 (ATIC)
3. Hydrolases
3.5 Acting on carbon-nitrogen bonds, other than peptide bonds
3.5.4 In cyclic amidines
3.5.4.10 IMP cyclohydrolase
471 (ATIC)
Exosome [BR:
hsa04147
]
Exosomal proteins
Exosomal proteins of other body fluids (saliva and urine)
471 (ATIC)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
AICARFT_IMPCHas
MGS
Ribosomal_L12_N
Motif
Other DBs
NCBI-GeneID:
471
NCBI-ProteinID:
NP_004035
OMIM:
601731
HGNC:
794
Ensembl:
ENSG00000138363
Pharos:
P31939
(Tchem)
UniProt:
P31939
V9HWH7
Structure
PDB
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All DBs
Position
2:215312059..215368592
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AA seq
592 aa
AA seq
DB search
MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEM
LGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEA
VEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFT
HTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINL
CDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNG
NYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIV
ATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKT
GVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDA
FFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH
NT seq
1779 nt
NT seq
+upstream
nt +downstream
nt
atggctcccggccagctcgccttatttagtgtctctgacaaaaccggccttgtggaattt
gcaagaaacctgaccgctcttggtttgaatctggtcgcttccggagggactgcaaaagct
ctcagggatgctggtctggcagtcagagatgtctctgagttgacgggatttcctgaaatg
ttggggggacgtgtgaaaactttgcatcctgcagtccatgctggaatcctagctcgtaat
attccagaagataatgctgacatggccagacttgatttcaatcttataagagttgttgcc
tgcaatctctatccctttgtaaagacagtggcttctccaggtgtaactgttgaggaggct
gtggagcaaattgacattggtggagtaaccttactgagagctgcagccaaaaaccacgct
cgagtgacagtggtgtgtgaaccagaggactatgtggtggtgtccacggagatgcagagc
tccgagagtaaggacacctccttggagactagacgccagttagccttgaaggcattcact
catacggcacaatatgatgaagcaatttcagattatttcaggaaacagtacagcaaaggc
gtatctcagatgcccttgagatatggaatgaacccacatcagacccctgcccagctgtac
acactgcagcccaagcttcccatcacagttctaaatggagcccctggatttataaacttg
tgcgatgctttgaacgcctggcagctggtgaaggaactcaaggaggctttaggtattcca
gccgctgcctctttcaaacatgtcagcccagcaggtgctgctgttggaattccactcagt
gaagatgaggccaaagtctgcatggtttatgatctctataaaaccctcacacccatctca
gcggcatatgcaagagcaagaggggctgataggatgtcttcatttggtgattttgttgca
ttgtccgatgtttgtgatgtaccaactgcaaaaattatttccagagaagtatctgatggt
ataattgccccaggatatgaagaagaagccttgacaatactttccaaaaagaaaaatgga
aactattgtgtccttcagatggaccaatcttacaaaccagatgaaaatgaagttcgaact
ctctttggtcttcatttaagccagaagagaaataatggtgtcgtcgacaagtcattattt
agcaatgttgttaccaaaaataaagatttgccagagtctgccctccgagacctcatcgta
gccaccattgctgtcaagtacactcagtctaactctgtgtgctacgccaagaacgggcag
gttatcggcattggagcaggacagcagtctcgtatacactgcactcgccttgcaggagat
aaggcaaactattggtggcttagacaccatccacaagtgctttcgatgaagtttaaaaca
ggagtgaagagagcagaaatctccaatgccatcgatcaatatgtgactggaaccattggc
gaggatgaagatttgataaagtggaaggcactgtttgaggaagtccctgagttactcact
gaggcagagaagaaggaatgggttgagaaactgactgaagtttctatcagctctgatgcc
ttcttccctttccgagataacgtagacagagctaaaaggagtggtgtggcgtacattgcg
gctccctccggttctgctgctgacaaagttgtgattgaggcctgcgacgaactgggaatc
atcctcgctcatacgaaccttcggctcttccaccactga
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