Details for: ATIC

Gene ID: 471

Symbol: ATIC

Ensembl ID: ENSG00000138363

Description: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.94
    Marker Score: 2019.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.93
    Marker Score: 7601
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.69
    Marker Score: 487
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.66
    Marker Score: 6779
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.59
    Marker Score: 1077
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.52
    Marker Score: 3181
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.5
    Marker Score: 1880
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.46
    Marker Score: 1469
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.41
    Marker Score: 1487
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.33
    Marker Score: 2253
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.31
    Marker Score: 2288
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.3
    Marker Score: 3094.5
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.29
    Marker Score: 1830
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.27
    Marker Score: 847
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.25
    Marker Score: 438
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.25
    Marker Score: 401
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.25
    Marker Score: 904
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.24
    Marker Score: 4597
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.23
    Marker Score: 3338
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.2
    Marker Score: 901
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.19
    Marker Score: 1710
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.18
    Marker Score: 5079
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.16
    Marker Score: 1537
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 1.11
    Marker Score: 265
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.11
    Marker Score: 1178
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.1
    Marker Score: 1626
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.09
    Marker Score: 622
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.08
    Marker Score: 6893
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.07
    Marker Score: 777
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.04
    Marker Score: 9783
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.03
    Marker Score: 1107
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.02
    Marker Score: 8791
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.02
    Marker Score: 1994
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.01
    Marker Score: 1082
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1
    Marker Score: 636
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1
    Marker Score: 498
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1
    Marker Score: 21328
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1
    Marker Score: 11590
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71674
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47898
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.99
    Marker Score: 1625
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.98
    Marker Score: 542
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30387
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.98
    Marker Score: 2896
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.98
    Marker Score: 478
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.97
    Marker Score: 33447
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.96
    Marker Score: 9954
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.95
    Marker Score: 1466
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.95
    Marker Score: 499
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.94
    Marker Score: 887
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2393
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.94
    Marker Score: 1679
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 478
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.92
    Marker Score: 576.5
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.91
    Marker Score: 2479
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5198
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2693
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.88
    Marker Score: 32544
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.88
    Marker Score: 11631
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.88
    Marker Score: 828
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.88
    Marker Score: 807
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.87
    Marker Score: 2059
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.87
    Marker Score: 8297
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.87
    Marker Score: 5672
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.87
    Marker Score: 591.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.86
    Marker Score: 9728
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.85
    Marker Score: 298
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.85
    Marker Score: 1308
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.84
    Marker Score: 8467.5
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.84
    Marker Score: 616
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.84
    Marker Score: 315
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.83
    Marker Score: 566
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.83
    Marker Score: 235
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.83
    Marker Score: 455
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.82
    Marker Score: 12895
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.82
    Marker Score: 218
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.82
    Marker Score: 20939
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.82
    Marker Score: 3500
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.81
    Marker Score: 191
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.81
    Marker Score: 433
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.81
    Marker Score: 325
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.81
    Marker Score: 8165
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.8
    Marker Score: 717
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.8
    Marker Score: 198
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.8
    Marker Score: 326
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8
    Marker Score: 49125
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.8
    Marker Score: 534
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.79
    Marker Score: 393
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.79
    Marker Score: 5898
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.79
    Marker Score: 10619
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.78
    Marker Score: 41384
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.78
    Marker Score: 324
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 592
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.77
    Marker Score: 267
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.77
    Marker Score: 584
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.77
    Marker Score: 838

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Other Information

**Key characteristics:** * The ATIC gene is located on chromosome 15q21.1. * It is a large gene encoding a protein of 481 amino acids. * ATIC is expressed in a variety of cell types, including erythroid progenitor cells, placental villous trophoblast, male germ cells, pro-T cells, proerythroblast, epithelial cells of the nephron, primordial germ cells, fraction A pre-pro B cell, kidney epithelial cells, and mesenchymal cells. **Pathways and functions:** * The ATIC gene is involved in multiple pathways and functions, including: * De novo imp biosynthesis process * Brainstem development * Cadherin binding * Cerebellum development * Disease * Metabolism of nucleotides * Phosphoribosylaminoimidazolecarboxamide formyltransferase activity * Protein homodimerization activity * Purine ribonucleoside monophosphate biosynthesis * Response to inorganic substances * Signaling by alk fusions and activated point mutants **Clinical significance:** * Mutations in the ATIC gene have been linked to several human diseases, including: * Congenital abnormalities of the brain and nervous system * Kidney diseases * Cancer * Genetic testing for ATIC mutations is used in the diagnosis of these disorders. * Targeting the ATIC gene has emerged as a promising therapeutic strategy for some types of cancer.

Genular Protein ID: 4223598774

Symbol: PUR9_HUMAN

Name: Bifunctional purine biosynthesis protein ATIC

UniProtKB Accession Codes:

P31939 A8K202 E9PBU3 Q13856 Q53S28

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 32 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 EC 2 EMBL 8 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 5 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 8 SABIO-RK 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 2 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8567683

Title: The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping.

PubMed ID: 8567683

DOI: 10.1074/jbc.271.4.2225

PubMed ID: 8867801

Title: Isolation of human purH gene expressed in the rodent transformant cells by subtractive enrichment of 3'-untranslated region of human transcript.

PubMed ID: 8867801

DOI: 10.1093/dnares/2.6.269

PubMed ID: 9378707

Title: Characterization of molecularly cloned human 5-aminoimidazole-4-carboxamide ribonucleotide transformylase.

PubMed ID: 9378707

DOI: 10.1093/oxfordjournals.jbchem.a021754

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1286667

Title: Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.

PubMed ID: 1286667

DOI: 10.1002/elps.11501301199

PubMed ID: 10985775

Title: Human AICAR transformylase: role of the 4-carboxamide of AICAR in binding and catalysis.

PubMed ID: 10985775

DOI: 10.1021/bi0007268

PubMed ID: 11948179

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.

PubMed ID: 11948179

DOI: 10.1074/jbc.m111964200

PubMed ID: 14756554

Title: Catalytic mechanism of the cyclohydrolase activity of human aminoimidazole carboxamide ribonucleotide formyltransferase/inosine monophosphate cyclohydrolase.

PubMed ID: 14756554

DOI: 10.1021/bi035139b

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25687571

Title: The last enzyme of the de novo purine synthesis pathway 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC) plays a central role in insulin signaling and the Golgi/endosomes protein network.

PubMed ID: 25687571

DOI: 10.1074/mcp.m114.047159

PubMed ID: 14756553

Title: Structural insights into the human and avian IMP cyclohydrolase mechanism via crystal structures with the bound XMP inhibitor.

PubMed ID: 14756553

DOI: 10.1021/bi030162i

PubMed ID: 14966129

Title: Crystal structures of human bifunctional enzyme aminoimidazole-4-carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates.

PubMed ID: 14966129

DOI: 10.1074/jbc.m313691200

PubMed ID: 29072452

Title: Discovery of LSN 3213128, a Potent and Selective Nonclassical Antifolate Aminoimidazole-4-carboxamide Ribonucleotide Formyltransferase (AICARFT) Inhibitor Effective at Tumor Suppression in a Cancer Xenograft Model.

PubMed ID: 29072452

DOI: 10.1021/acs.jmedchem.7b01046

PubMed ID: 15114530

Title: AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

PubMed ID: 15114530

DOI: 10.1086/421475

Sequence Information:

  • Length: 592
  • Mass: 64616
  • Checksum: AD778892021F0888
  • Sequence:
    • MAPGQLALFS VSDKTGLVEF ARNLTALGLN LVASGGTAKA LRDAGLAVRD VSELTGFPEM 
LGGRVKTLHP AVHAGILARN IPEDNADMAR LDFNLIRVVA CNLYPFVKTV ASPGVTVEEA 
VEQIDIGGVT LLRAAAKNHA RVTVVCEPED YVVVSTEMQS SESKDTSLET RRQLALKAFT 
HTAQYDEAIS DYFRKQYSKG VSQMPLRYGM NPHQTPAQLY TLQPKLPITV LNGAPGFINL 
CDALNAWQLV KELKEALGIP AAASFKHVSP AGAAVGIPLS EDEAKVCMVY DLYKTLTPIS 
AAYARARGAD RMSSFGDFVA LSDVCDVPTA KIISREVSDG IIAPGYEEEA LTILSKKKNG 
NYCVLQMDQS YKPDENEVRT LFGLHLSQKR NNGVVDKSLF SNVVTKNKDL PESALRDLIV 
ATIAVKYTQS NSVCYAKNGQ VIGIGAGQQS RIHCTRLAGD KANYWWLRHH PQVLSMKFKT 
GVKRAEISNA IDQYVTGTIG EDEDLIKWKA LFEEVPELLT EAEKKEWVEK LTEVSISSDA 
FFPFRDNVDR AKRSGVAYIA APSGSAADKV VIEACDELGI ILAHTNLRLF HH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.