LOCUS       NM_004044               1972 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide
            formyltransferase/IMP cyclohydrolase (ATIC), mRNA.
ACCESSION   NM_004044
VERSION     NM_004044.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1972)
  AUTHORS   Luo,B., Zhuang,L., Huang,J., Shi,L., Zhang,L., Zhu,M., Lu,Y.,
            Zhu,Q., Sun,D., Wang,H. and Fang,H.
  TITLE     LncRNA ZFAS1 regulates ATIC transcription and promotes the
            proliferation and migration of hepatocellular carcinoma through the
            PI3K/AKT signaling pathway
  JOURNAL   J Cancer Res Clin Oncol 150 (7), 351 (2024)
   PUBMED   39001904
  REMARK    GeneRIF: LncRNA ZFAS1 regulates ATIC transcription and promotes the
            proliferation and migration of hepatocellular carcinoma through the
            PI3K/AKT signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1972)
  AUTHORS   Lee,Y.H. and Song,G.G.
  TITLE     A meta-analysis of the association between the ATIC 347 C/G
            polymorphism and methotrexate responsiveness and toxicity in
            rheumatoid arthritis
  JOURNAL   Semin Arthritis Rheum 64, 152337 (2024)
   PUBMED   38071832
  REMARK    GeneRIF: A meta-analysis of the association between the ATIC 347
            C/G polymorphism and methotrexate responsiveness and toxicity in
            rheumatoid arthritis.
REFERENCE   3  (bases 1 to 1972)
  AUTHORS   Mashayekhi,M., Asadi,M., Hashemzadeh,S., Vahedi,A., Shanehbandi,D.,
            Al-Omar,A.F., Akbari,M. and Raeisi,M.
  TITLE     Promoter methylation levels of RASSF1 and ATIC genes are associated
            with lung cancer in Iranian patients
  JOURNAL   Horm Mol Biol Clin Investig 44 (2), 145-152 (2023)
   PUBMED   36584330
  REMARK    GeneRIF: Promoter methylation levels of RASSF1 and ATIC genes are
            associated with lung cancer in Iranian patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1972)
  AUTHORS   Bulock,K.G., Beardsley,G.P. and Anderson,K.S.
  TITLE     The kinetic mechanism of the human bifunctional enzyme ATIC
            (5-amino-4-imidazolecarboxamide ribonucleotide
            transformylase/inosine 5'-monophosphate cyclohydrolase). A
            surprising lack of substrate channeling
  JOURNAL   J Biol Chem 277 (25), 22168-22174 (2002)
   PUBMED   11948179
  REMARK    GeneRIF: The kinetic mechanism of the human bifunctional enzyme
            ATIC
REFERENCE   5  (bases 1 to 1972)
  AUTHORS   Vergis,J.M., Bulock,K.G., Fleming,K.G. and Beardsley,G.P.
  TITLE     Human 5-aminoimidazole-4-carboxamide ribonucleotide
            transformylase/inosine 5'-monophosphate cyclohydrolase. A
            bifunctional protein requiring dimerization for transformylase
            activity but not for cyclohydrolase activity
  JOURNAL   J Biol Chem 276 (11), 7727-7733 (2001)
   PUBMED   11096114
REFERENCE   6  (bases 1 to 1972)
  AUTHORS   Beardsley,G.P., Rayl,E.A., Gunn,K., Moroson,B.A., Seow,H.,
            Anderson,K.S., Vergis,J., Fleming,K., Worland,S., Condon,B. and
            Davies,J.
  TITLE     Structure and functional relationships in human pur H
  JOURNAL   Adv Exp Med Biol 431, 221-226 (1998)
   PUBMED   9598063
REFERENCE   7  (bases 1 to 1972)
  AUTHORS   Sugita,T., Aya,H., Ueno,M., Ishizuka,T. and Kawashima,K.
  TITLE     Characterization of molecularly cloned human
            5-aminoimidazole-4-carboxamide ribonucleotide transformylase
  JOURNAL   J Biochem 122 (2), 309-313 (1997)
   PUBMED   9378707
REFERENCE   8  (bases 1 to 1972)
  AUTHORS   Rayl,E.A., Moroson,B.A. and Beardsley,G.P.
  TITLE     The human purH gene product, 5-aminoimidazole-4-carboxamide
            ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning,
            sequencing, expression, purification, kinetic analysis, and domain
            mapping
  JOURNAL   J Biol Chem 271 (4), 2225-2233 (1996)
   PUBMED   8567683
REFERENCE   9  (bases 1 to 1972)
  AUTHORS   Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and
            Vandekerckhove,J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   10 (bases 1 to 1972)
  AUTHORS   Zalkin,H. and Dixon,J.E.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA074758.1, BC008879.2 and
            AA494525.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004044.6.
            
            Summary: This gene encodes a bifunctional protein that catalyzes
            the last two steps of the de novo purine biosynthetic pathway. The
            N-terminal domain has phosphoribosylaminoimidazolecarboxamide
            formyltransferase activity, and the C-terminal domain has IMP
            cyclohydrolase activity. A mutation in this gene results in
            AICA-ribosiduria. [provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.22572.1,
                                           SRR1803613.156414.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000236959.14/ ENSP00000236959.9
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                DA074758.1         91-144
            55-1964             BC008879.2         1-1910
            1965-1972           AA494525.1         20-27               c
FEATURES             Location/Qualifiers
     source          1..1972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1972
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /note="5-aminoimidazole-4-carboxamide ribonucleotide
                     formyltransferase/IMP cyclohydrolase"
                     /db_xref="GeneID:471"
                     /db_xref="HGNC:HGNC:794"
                     /db_xref="MIM:601731"
     exon            1..103
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1863
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /EC_number="2.1.2.3"
                     /EC_number="3.5.4.10"
                     /note="phosphoribosylaminoimidazolecarboxamide
                     formyltransferase/IMP cyclohydrolase;
                     5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide
                     transformylase/inosinicase; bifunctional purine
                     biosynthesis protein PURH; AICAR formyltransferase/IMP
                     cyclohydrolase bifunctional enzyme; AICARFT/IMPCHASE;
                     epididymis secretory sperm binding protein Li 70p; AICAR
                     transformylase/inosine monophosphate cyclohydrolase"
                     /codon_start=1
                     /product="bifunctional purine biosynthesis protein ATIC"
                     /protein_id="NP_004035.2"
                     /db_xref="CCDS:CCDS2398.1"
                     /db_xref="GeneID:471"
                     /db_xref="HGNC:HGNC:794"
                     /db_xref="MIM:601731"
                     /translation="MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDA
                     GLAVRDVSELTGFPEMLGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACN
                     LYPFVKTVASPGVTVEEAVEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQS
                     SESKDTSLETRRQLALKAFTHTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQ
                     LYTLQPKLPITVLNGAPGFINLCDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVG
                     IPLSEDEAKVCMVYDLYKTLTPISAAYARARGADRMSSFGDFVALSDVCDVPTAKIIS
                     REVSDGIIAPGYEEEALTILSKKKNGNYCVLQMDQSYKPDENEVRTLFGLHLSQKRNN
                     GVVDKSLFSNVVTKNKDLPESALRDLIVATIAVKYTQSNSVCYAKNGQVIGIGAGQQS
                     RIHCTRLAGDKANYWWLRHHPQVLSMKFKTGVKRAEISNAIDQYVTGTIGEDEDLIKW
                     KALFEEVPELLTEAEKKEWVEKLTEVSISSDAFFPFRDNVDRAKRSGVAYIAAPSGSA
                     ADKVVIEACDELGIILAHTNLRLFHH"
     exon            104..230
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            231..307
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            308..374
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            375..463
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            464..615
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            616..772
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            773..898
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1006
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1092
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1182
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1311
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1404
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1587
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1743
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1972
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1945..1950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /note="hexamer: AATAAA"
     polyA_site      1972
                     /gene="ATIC"
                     /gene_synonym="AICAR; AICARFT; HEL-S-70p; IMPCHASE; PURH"
                     /note="major polyA site"
ORIGIN      
        1 gccacatccc ggcagccctc ctacctgcgc acgtggtgcc gccgctgctg cctcccgctc
       61 gccctgaacc cagtgcctgc agccatggct cccggccagc tcgccttatt tagtgtctct
      121 gacaaaaccg gccttgtgga atttgcaaga aacctgaccg ctcttggttt gaatctggtc
      181 gcttccggag ggactgcaaa agctctcagg gatgctggtc tggcagtcag agatgtctct
      241 gagttgacgg gatttcctga aatgttgggg ggacgtgtga aaactttgca tcctgcagtc
      301 catgctggaa tcctagctcg taatattcca gaagataatg ctgacatggc cagacttgat
      361 ttcaatctta taagagttgt tgcctgcaat ctctatccct ttgtaaagac agtggcttct
      421 ccaggtgtaa ctgttgagga ggctgtggag caaattgaca ttggtggagt aaccttactg
      481 agagctgcag ccaaaaacca cgctcgagtg acagtggtgt gtgaaccaga ggactatgtg
      541 gtggtgtcca cggagatgca gagctccgag agtaaggaca cctccttgga gactagacgc
      601 cagttagcct tgaaggcatt cactcatacg gcacaatatg atgaagcaat ttcagattat
      661 ttcaggaaac agtacagcaa aggcgtatct cagatgccct tgagatatgg aatgaaccca
      721 catcagaccc ctgcccagct gtacacactg cagcccaagc ttcccatcac agttctaaat
      781 ggagcccctg gatttataaa cttgtgcgat gctttgaacg cctggcagct ggtgaaggaa
      841 ctcaaggagg ctttaggtat tccagccgct gcctctttca aacatgtcag cccagcaggt
      901 gctgctgttg gaattccact cagtgaagat gaggccaaag tctgcatggt ttatgatctc
      961 tataaaaccc tcacacccat ctcagcggca tatgcaagag caagaggggc tgataggatg
     1021 tcttcatttg gtgattttgt tgcattgtcc gatgtttgtg atgtaccaac tgcaaaaatt
     1081 atttccagag aagtatctga tggtataatt gccccaggat atgaagaaga agccttgaca
     1141 atactttcca aaaagaaaaa tggaaactat tgtgtccttc agatggacca atcttacaaa
     1201 ccagatgaaa atgaagttcg aactctcttt ggtcttcatt taagccagaa gagaaataat
     1261 ggtgtcgtcg acaagtcatt atttagcaat gttgttacca aaaataaaga tttgccagag
     1321 tctgccctcc gagacctcat cgtagccacc attgctgtca agtacactca gtctaactct
     1381 gtgtgctacg ccaagaacgg gcaggttatc ggcattggag caggacagca gtctcgtata
     1441 cactgcactc gccttgcagg agataaggca aactattggt ggcttagaca ccatccacaa
     1501 gtgctttcga tgaagtttaa aacaggagtg aagagagcag aaatctccaa tgccatcgat
     1561 caatatgtga ctggaaccat tggcgaggat gaagatttga taaagtggaa ggcactgttt
     1621 gaggaagtcc ctgagttact cactgaggca gagaagaagg aatgggttga gaaactgact
     1681 gaagtttcta tcagctctga tgccttcttc cctttccgag ataacgtaga cagagctaaa
     1741 aggagtggtg tggcgtacat tgcggctccc tccggttctg ctgctgacaa agttgtgatt
     1801 gaggcctgcg acgaactggg aatcatcctc gctcatacga accttcggct cttccaccac
     1861 tgattttacc acacactgtt ttttggcttg cttatgtgta ggtgaacagt cacgcctgaa
     1921 actttgagga taacttttta aaaaaataaa acagtatctc ttaatcactg ga
//
