ATIC Gene
protein-coding GIFtS: 65
GCID: GC02P216176
|
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP...
| |
Aliases
for ATIC gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| 5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMPCyclohydrolase1 2 | | 5-Aminoimidazole-4-Carboxamide-1-Beta-D-RibonucleotideTransformylase/Inosinicase2 | | PURH1 2 3 5 | | AICARFT/IMPCHASE2 | | AICARFT1 2 | | AICAR Formyltransferase/IMP Cyclohydrolase Bifunctional Enzyme2 | | IMPCHASE1 2 | | Bifunctional Purine Biosynthesis Protein PURH2 | | AICAR2 5 | | Phosphoribosylaminoimidazolecarboxamide Formyltransferase/IMP Cyclohydrolase2 |
Export aliases for ATIC gene to outside databasesPrevious GC identifers: GC02P214339 GC02P214901 GC02P216140 GC02P216379 GC02P216002 GC02P215885 GC02P208033 |
Summaries
for ATIC gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATIC:
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-terminaldomain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. (provided by RefSeq, Sep2009)
UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939Function: Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis
Gene Wiki entry for ATIC (Inosine monophosphate synthase)
|
Genomic Views
for ATIC gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATIC gene promoter:
AML1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATIC
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATIC |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q35ATIC Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P216176: view genomic region
(about GC identifiers)
Start:
|
216,176,540 bp from pter |
End:
|
216,214,496 bp from pter |
Size:
|
37,957 bases |
Orientation:
|
plus strand |
|
Proteins
for ATIC gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939 (See
protein sequence)Recommended Name: Bifunctional purine biosynthesis protein PURH Size: 592 amino acids; 64616 Da
Subunit: Homodimer
3 PDB 3D structures from  and Proteopedia  for ATIC:1P4R (3D)
1PKX (3D)
1PL0 (3D)
Secondary accessions: Q13856 Q53S28Explore the universe of human proteins at neXtProt for ATIC: NX_P31939
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P31939
ATIC Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004035.2
ENSEMBL proteins: ENSP00000236959 ENSP00000388675 ENSP00000406792 ENSP00000415935 ENSP00000394317 ENSP00000402393 ENSP00000393485 ENSP00000401936 ENSP00000391399 ENSP00000440523 Reactome Protein details: P31939
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
ATIC for ontologies About GeneDecksing
ATIC Antibody Products:
Assay Products for ATIC: |
Protein
Domains /
Families
for ATIC gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATIC for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P31939ProtoNet protein and cluster: P31939 2 Blocks protein families: IPB002695 AICARFT/IMPCHase bienzyme IPB011607 MGS-like
UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939Domain: The IMP cyclohydrolase activity resides in the N-terminal regionSimilarity: Belongs to the PurH family |
Function
for ATIC gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939Function: Bifunctional enzyme that catalyzes 2 steps in purine biosynthesisCatalytic activity: 10-formyltetrahydrofolate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide =tetrahydrofolate + 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamideCatalytic activity: IMP + H(2)O = 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATIC (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATIC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ATIC (NM_004044) | |  | Sino Biological Human cDNA Clone for ATIC | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATIC | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATIC |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATIC |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003937 | IMP cyclohydrolase activity |
TAS | -- | | GO:0004643 | phosphoribosylaminoimidazolecarboxamide formyltransferase activity |
TAS | -- | | GO:0042803 | protein homodimerization activity |
IPI | 14966129 |
ATIC for ontologies About GeneDecksing
|
Pathways & Interactions
for ATIC gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Purine metabolism | | | 2 | purine nucleotides de novo biosynthesis II | | | 3 | Antimetabolite Pathway - Folate Cycle, Pharmacodynamics | | | 4 | One Carbon Metabolism | | | 5 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3  BioSystems Pathways for ATIC
4 
Reactome Pathways for ATIC
2  PharmGKB Pathways for ATIC
3 
Kegg Pathways (Kegg details for ATIC):
UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939Pathway: Purine metabolism; IMP biosynthesis via de novo pathway;5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide(10-formyl THF route): step 1/1Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; IMP from5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1
ATIC for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATIC
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/157 Interacting proteins for ATIC (P319393 ENSP000002369594) via UniProtKB, MINT, STRING, and/or I2D (see all 157)
About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003360 | brainstem development |
IEA | -- | | GO:0006139 | nucleobase-containing compound metabolic process |
TAS | 8567683 | | GO:0006144 | purine nucleobase metabolic process |
TAS | -- | | GO:0006164 | purine nucleotide biosynthetic process |
-- | -- | | GO:0006189 | 'de novo' IMP biosynthetic process |
IEA | -- |
ATIC for ontologies About GeneDecksing
|
Drugs & Compounds
for ATIC gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ATIC for compounds About GeneDecksing
 Browse Tocris compounds for ATIC
7 HMDB Compounds for ATIC About this table
8 DrugBank Compounds for ATIC About this table
10/17 Novoseek chemical compound relationships for ATIC gene (see all 17) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| faicar |
97.5 |
10 |
7810885 (2), 7947835 (2), 9744084 (1) |
| aicar |
96.7 |
169 |
18709353 (9), 16151020 (7), 18326758 (7), 20404044 (5) (see all 40) |
| thio-imp |
89.9 |
1 |
7947835 (1) |
| aica |
88.7 |
3 |
16798121 (1), 10801888 (1) |
| acadesine |
85.4 |
7 |
17669398 (1), 18709353 (1), 16151020 (1), 18326758 (1) (see all 7) |
| glycinamide ribonucleotide |
84.7 |
2 |
1313737 (1), 9679969 (1) |
| xanthosine-5'-monophosphate |
80.9 |
2 |
17324932 (1), 7947835 (1) |
| purine |
79 |
22 |
15114530 (2), 12501179 (1), 9143321 (1), 10855951 (1) (see all 14) |
| lometrexol |
77.8 |
1 |
9679969 (1) |
| inosine monophosphate |
77.6 |
15 |
12974624 (1), 16798121 (1), 9556223 (1), 11096114 (1) (see all 8) |
1 PharmGKB related drug/compound annotation for ATIC geneAbout this table
Search CenterWatch for drugs/clinical trials and news about ATIC / PUR9
|
Transcripts
for ATIC gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATIC gene: NM_004044.6 Unigene Cluster for ATIC: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Hs.90280 [show with all ESTs]Unigene Representative Sequence: NM_00404415 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000236959(uc002vex.4) ENST00000444305 ENST00000488712 ENST00000443953
ENST00000435675(uc002vey.4) ENST00000427397 ENST00000413174 ENST00000446622
ENST00000426233 ENST00000479093 ENST00000467388 ENST00000459796 ENST00000442048
ENST00000478734 ENST00000540518(uc010zjo.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATIC (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATIC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATIC (NM_004044) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATIC | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATIC |
Additional cDNA sequence: AB062403.1 AK313066.1 BC008879.2 D89976.1 22 DOTS entries: DT.318571 DT.95171983 DT.100756857 DT.100825148 DT.92458889 DT.40239353 DT.100825145 DT.120975512 DT.95171985 DT.101979967 DT.100770034 DT.120975563 DT.91802517 DT.92458900 DT.100825137 DT.100825142 DT.100825152 DT.120975532 DT.95171986 DT.95198014 DT.99953791 DT.100044501 24/598 AceView cDNA sequences (see all 598): CR600478 AI473838 BQ420448 BU189824 AA314232 BU158499 BE622556 BM817800 AW192658 BM474597 BE249880 BI861841 AI283346 AU124730 BQ059430 CR594366 BU956890 AI264236 CR601137 BQ643269 BM742826 AU130548 BQ881201 BM826898
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ATIC (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ |
|---|
|
| SP1: | | | | | | | - | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
|---|
|
| SP1: | | | | | | | | | |
| SP2: | | | | | | | | | |
| SP3: | | | | | | | | | |
| SP4: | | | | | | | | | |
| SP5: | | | - | | | | | |
ECgene alternative splicing isoforms for ATIC
|
Expression
for ATIC gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATIC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTATGATC
About this image
See ATIC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATIC
SOURCE GeneReport for Unigene cluster: Hs.90280
SABiosciences Custom PCR Arrays for ATIC
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATIC
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATIC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATIC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATIC | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATIC |
Orthologs
for ATIC gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ATIC gene from 11/36 species (see all 36) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Atic1 , 5 |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP more1, 5 |
85.59(n)1
91.05(a)1 |
|
1 (36.03 cM)5
1081471 NM_026195.31 NP_080471.21
715571505 |
chicken
(Gallus gallus) |
Aves |
ATIC1 |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP more |
75.68(n)
83.84(a) |
|
396091 NM_205178.1 NP_990509.1 |
lizard
(Anolis carolinensis) |
Reptilia |
----(see all 3) |
-- |
82(a)80(a)(see all 3) |
many → 1many → 1(see all 3) |
1(116785418-116837050) AAWZ02038853(221-8703) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.36902 |
Xenopus laevis transcribed sequence with moderate similarity more |
74.04(n) |
|
CD253549.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
atic2 |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP more |
75.54(n) |
|
140622 BC045385.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG110891 , 3 |
phosphoribosylaminoimidazole-carboxamide
formyltransferase3
CG110891 |
71(a)3
64.63(n)1
70.85(a)1 |
|
96B23
429731 NM_001202358.11 NP_001189287.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
C55F2.1b3
C55F2.11 |
Protein C55F2.11 |
56(a)
(best of 2)3
60.5(n)1
60.96(a)1 |
|
IV(7882191-7900302)3
1775761 NM_171912.41 NP_741452.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
ADE17(YMR120C)4
ADE171 |
Enzyme of 'de novo' purine biosynthesis containing more4
Ade17p1 |
60.38(n)1
62.26(a)1 |
|
13(509280-507502)4
8551491, 4 NP_013839.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G350406 |
phosphoribosylaminoimidazolecarboxamide formyltran... |
31(a) |
1 ↔ 1 |
2(14765160-14768329) |
rice
(Oryza sativa) |
Liliopsida |
-- |
bifunctional purine biosynthesis protein purH, put... |
31(a) |
1 ↔ 1 |
8(6217691-6223058) |
ENSEMBL Gene Tree for ATIC (if available)
TreeFam Gene Tree for ATIC (if available) |
Paralogs
for ATIC gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATIC gene
ATIC for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ATIC
PGOHUM00000246108
|
Genomic Variants
for ATIC gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATIC (216176540 - 216214496 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATIC
1 Indel: 58963
Human Gene Mutation Database (HGMD): ATIC
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATIC |
|
Disorders
/ Diseases
for ATIC gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATIC for disorders About GeneDecksing
OMIM gene information: 601731
OMIM disorders: 608688
UniProtKB/Swiss-Prot: PUR9_HUMAN, P31939
Defects in ATIC are the cause of AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688]. Aneurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside inthe urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profoundmental retardation, epilepsy, dysmorphic features and congenital blindness
19  diseases for ATIC: About MalaCardsaica-ribosiduria due to atic deficiency mental retardation epilepsy spina bifida rheumatoid arthritis
multiple myeloma arthritis myeloma thrombosis
homocysteine colon cancer blindness psoriasis
colorectal cancer leukemia pneumonia tuberculosis
hepatitis venous thrombosis mycobacterium tuberculosis
2 diseases from the University of Copenhagen DISEASES database for ATIC:Diabetes mellitus Anaplastic large cell lymphoma 4 Novoseek disease relationships for ATIC gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| leukemia l1210 |
49.7 |
2 |
1313737 (1) |
| rheumatoid arthritis |
46.2 |
5 |
10855951 (2), 15457444 (1), 20404044 (1) |
| leukemia |
0 |
1 |
9556223 (1) |
| tumors |
0 |
1 |
18326758 (1) |
Genetic Association Database (GAD): ATIC
Human Genome Epidemiology (HuGE) Navigator: ATIC (22 documents)
Export disorders for ATIC gene to outside databases
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Publications
for ATIC gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for ATIC gene, integrated from 9 sources (see all 107):
(articles sorted by number of sources associating them with ATIC) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)1, 2, 3, 9 Rayl E.A.... Beardsley G.P. (1996)
- Characterization of molecularly cloned human 5-aminoimidazole-4- carboxamide ribonucleotide transformylase. (PubMed id 9378707)1, 2, 3, 9 Sugita T.... Kawashima K. (1997)
- AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. (PubMed id 15114530)1, 2, 9 Marie S....Vincent M.-F. (2004)
- Crystal structures of human bifunctional enzyme aminoimidazole-4-carboxamide ribonucleotide transformylase/IMP cyclohydrolase in complex with potent sulfonyl-containing antifolates. (PubMed id 14966129)1, 2, 9 Cheong C.G....Wilson I.A. (2004)
- Structural insights into the human and avian IMP cyclohydrolase mechanism via crystal structures with the bound XMP inhibitor. (PubMed id 14756553)1, 2, 9 Wolan D.W....Wilson I.A. (2004)
- Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. (PubMed id 15457444)1, 4, 9 Dervieux T....Kremer J. (2004)
- Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate: results of a multicentred cross sectional observational study. (PubMed id 15677700)1, 4, 9 Dervieux T....Kremer J. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- 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)1, 7 Bulock K.G....Anderson K.S. (2002)
- Isolation of human purH gene expressed in the rodent transformant cells by subtractive enrichment of 3'-untranslated region of human transcript. (PubMed id 8867801)1, 2 Yamauchi M.... Koyama H. (1995)
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External Searches for ATIC gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ATIC gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ATIC gene
(According to HUGE)
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Specialized Databases showing ATIC gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for ATIC gene:
Search GeneIP for patents involving ATIC
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ATIC gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for ATIC | | OriGene shRNA RFP for ATIC | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATIC | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATIC | | | OriGene Protein Over-expression Lysate for ATIC | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ATIC | | OriGene 3'-UTR Clone for ATIC | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATIC | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATIC | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ATIC | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ATIC | | OriGene Custom Protein Services for ATIC | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATIC | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATIC | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATIC | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATIC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATIC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATIC |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATIC |
|  |  |  | | | | ThermoFisher Antibody for ATIC |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATIC |
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