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]
 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 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: 

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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