KEGG   Homo sapiens (human): 471Help
Entry
471               CDS       T01001                                 

Gene name
ATIC, AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH
Definition
(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  Inosine monophosphate biosynthesis, PRPP + glutamine => IMP
Disease
H00966  AICA-ribosiduria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Nucleotide metabolism
   00230 Purine metabolism
    471 (ATIC)
  Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    471 (ATIC)
 Human Diseases
  Drug resistance
   01523 Antifolate resistance
    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 OrthologParalogGFIT
Motif
Pfam: AICARFT_IMPCHas MGS Ribosomal_L12_N
Motif
Other DBs
NCBI-GeneID: 471
NCBI-ProteinID: NP_004035
OMIM: 601731
HGNC: 794
Ensembl: ENSG00000138363
Vega: OTTHUMG00000133023
Pharos: P31939(Tchem)
UniProt: P31939 V9HWH7
Structure
PDB: 

Jmol
Position
2q35
AA seq 592 aa AA seqDB search
MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEM
LGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEA
VEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFT
HTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINL
CDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNG
NYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIV
ATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKT
GVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDA
FFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH
NT seq 1779 nt NT seq  +upstreamnt  +downstreamnt
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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