KEGG   Homo sapiens (human): 471
Entry
471               CDS       T01001                                 
Symbol
ATIC, AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH
Name
(RefSeq) bifunctional purine biosynthesis protein ATIC
  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)
SSDB
Motif
Pfam: AICARFT_IMPCHas MGS Ribosomal_L12_N
Other DBs
NCBI-GeneID: 471
NCBI-ProteinID: NP_004035
OMIM: 601731
HGNC: 794
Ensembl: ENSP00000236959.9
UniProt: P31939 V9HWH7
Structure
Position
2:215312059..215368592
AA seq 592 aa
MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEM
LGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEA
VEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFT
HTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINL
CDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNG
NYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIV
ATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKT
GVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDA
FFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH
NT seq 1779 nt   +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

  All links  
Disease (2)   
   OMIM (2)   
Gene (14)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (19)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (16)   
DNA sequence (46)   
   RefSeq(nuc) (22)   
   GenBank (12)   
   EMBL (12)   
3D Structure (5)   
   PDB (5)   
Protein domain (3)   
   Pfam (3)   
All databases (89)   

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