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GART Gene

protein-coding GIFtS: 59

GC21M020354

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: PRGS, PGFT)

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase, and/or ⁹Nature:405,311-319 and CroW21)
About This Section

Aliases & Descriptions
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase¹ ²		AIRS²
PRGS² ³ ⁵		GARTF²
PGFT² ³ ⁵		trifunctional purine biosynthetic protein adenosine-3²
OTTHUMP00000068333²		MGC47764²
GARS²		OTTHUMP00000197910²
PAIS²		phosphoribosylglycinamide formyltransferase, EC 2.1.2.29

External Ids:	HGNC: 4163¹	Entrez Gene: 2618²	Ensembl: ENSG00000159131⁷	UniProtKB: P22102³

Export aliases for GART gene to outside databases

Previous GC identifers: GC21M031453 GC21M031536 GC21M033796 GC21M033798 GC21M034870

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GART:

The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase,

phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo

purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two

transcript variants encoding different isoforms. (provided by RefSeq)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GART gene promoter:
         SRY   Meis-1   HOXA9B   CUTL1   STAT5A   FOXO3b   FOXO3a   MIF-1   STAT6   STAT3
         Other transcription factors

Search SABiosciences Chromatin IP Primers for GART

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for GART

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.1|21q22.11 Ensembl cytogenetic band: 21q22.11 HGNC cytogenetic band: 21q22.11
Nature(405: 311-319) cytogenetic band: 21q22.11

GART Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GART gene location

GeneLoc gene densities for chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M020354:	GeneLoc	Nature:405,311-319
Start:	20,354,547 bp from pter	20,452,917 bp from centromere
End:	20,393,666 bp from pter	20,491,053 bp from centromere
Size:	39,120 bases	38,137 bases
Orientation:	minus strand	minus strand

2 alternative locations:

Chr21-,PATCHES 34,881,017-34,888,544

Chr21- 34,870,940-34,915,797

RefSeq DNA sequence:

NC_000021.8 NT_011512.11

Whole chromosome sequencing:
cDNA sequence:	X54199
genomic clones:	pS590 pT604

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102 (See protein sequence)

Recommended Name: Trifunctional purine biosynthetic protein adenosine-3

Size: 1010 amino acids; 107767 Da

PDB structures from and Proteopedia :

1MEJ (3D)

1MEN (3D)

1MEO (3D)

1NJS (3D)

1RBM (3D)

1RBQ (3D)

1RBY (3D)

1RBZ (3D)

1RC0 (3D)

1RC1 (3D)

1ZLX (3D)

1ZLY (3D)

2QK4 (3D)

2V9Y (3D)

Secondary accessions: A8K945 A8KA32 O14659 Q52M77

Alternative splicing: 2 isoforms: P22102-1 P22102-2

Explore the universe of human proteins at neXtProt for GART: NX_P22102

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_000810.1 NP_001129477.1 NP_001129478.1 NP_780294.1

ENSEMBL proteins:

ENSP00000407783 ENSP00000371253 ENSP00000413803 ENSP00000354388 ENSP00000390003 ENSP00000420041

ENSP00000371236 ENSP00000416085 ENSP00000398631 ENSP00000413040 ENSP00000409771 ENSP00000371261

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for GART
	Novus Biologicals Protein for GART
	Novus Biologicals Lysates for GART
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	TAS	--

About this table

GART for ontologies About GeneDecksing

Antibodies for GART:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for GART
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for GART
	Novus Biologicals Antibodies for GART
	Browse antibodies at Epitomics

Assays for GART:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GART
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GART

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GART for domains About GeneDecksing

5/18 InterPro domains/families (see all 18):

IPR020560 PRibGlycinamide_synth_C-dom

IPR020561 PRibGlycinamid_synth_ATP-grasp

IPR016185 PreATP-grasp-like

IPR020562 PRibGlycinamide_synth_N-dom

IPR011761 ATP-grasp

Graphical View of Domain Structure for InterPro Entry P22102

ProtoNet protein and cluster: P22102

3 Blocks protein families:

IPB000115 Phosphoribosylglycinamide synthetase

IPB000728 AIR synthase related protein

IPB010918 AIR synthase related protein

UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102

Similarity: In the N-terminal section; belongs to the GARS family

Similarity: In the central section; belongs to the AIR synthase family

Similarity: In the C-terminal section; belongs to the GART family

Similarity: Contains 1 ATP-grasp domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102

Catalytic activity: ATP + 5-phospho-D-ribosylamine + glycine = ADP + phosphate + N(1)-(5-phospho-D-ribosyl)glycinamide

Catalytic activity: ATP + 2-(formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine = ADP + phosphate +

5-amino-1-(5-phospho-D-ribosyl)imidazole

Catalytic activity: 10-formyltetrahydrofolate + N(1)-(5-phospho-D-ribosyl)glycinamide = tetrahydrofolate +

N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GART Sigma-Aldrich shRNA for GART
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): GART OriGene shRNA RFP (see all 4): GART OriGene basic RS shRNA (see all 4): GART OriGene siRNA (see all 4): GART
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GART

miRNA:		Sigma-Aldrich microRNA Mimics for GART Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GART
		Search SABiosciences for Assays for microRNAs that regulate GART

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): GART OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): GART OriGene untagged cDNA clones in CMV expression vector (see all 2): GART OriGene 3'-UTR clone (see all 4): GART Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for GART
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for GART

Genatlas biochemistry entry for GART:

glycineamide formyltransferase,catalyzing the third step of the de novo purine biosynthesis,leading to

formylglycinamide ribonucleotide (FGAR)

5/12 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 12):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003824	catalytic activity	--	--
GO:0004637	phosphoribosylamine-glycine ligase activity	TAS	--
GO:0004641	phosphoribosylformylglycinamidine cyclo-ligase activity	TAS	--
GO:0004644	phosphoribosylglycinamide formyltransferase activity	TAS	--

About this table

GART for ontologies About GeneDecksing

Animal Models: 1 MGI phenotypic allele for Gart (no phenotypes)

GART for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

GART for pathways About GeneDecksing

2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for GART

	Purine Metabolism
	One Carbon Pool by Folate

3 Kegg Pathways (Kegg details for GART):

	hsa00230 Purine metabolism
	hsa00670 One carbon pool by folate
	hsa01100 Metabolic pathways

UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102

Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from

N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 2/2

Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from

5-phospho-alpha-D-ribose 1-diphosphate: step 2/2

Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide

from N(1)-(5-phospho-D-ribosyl)glycinamide (10-formyl THF route): step 1/1

    SABiosciences Custom Pathway-Focused PCR Arrays for GART

  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GART
  Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GART

5/18 Interacting proteins for GART (P22102^{1, 2} ENSP00000371236³) via UniProtKB, MINT, and/or STRING (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARF6	P62330¹	EBI-356297,EBI-638181
IKBKG	Q9Y6K9²	MINT-48228
ALDH1L1	ENSP00000273450³	STRING: ENSP00000273450
ATIC	ENSP00000236959³	STRING: ENSP00000236959
FTCD	ENSP00000352707³	STRING: ENSP00000352707

About this table

5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006144	purine base metabolic process	TAS	--
GO:0006164	purine nucleotide biosynthetic process	IEA	--
GO:0006189	'de novo' IMP biosynthetic process	IEA	--
GO:0009058	biosynthetic process	IEA	--
GO:0009113	purine base biosynthetic process	IEA	--

About this table

GART for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

GART for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GART
10/17 Novoseek chemical compound relationships for GART gene (see all 17)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycinamide ribonucleotide	97.9	58	11604543 (4), 15777723 (2), 7532005 (2), 2289000 (1) (see all 26)
aminoimidazole ribonucleotide	88.8	10	17982461 (1), 9328467 (1), 9473452 (1), 8299947 (1)
lometrexol	88.5	1	12234990 (1)
phosphoribosylamine	88.2	4	7532005 (2), 8238909 (1)
1843u89	86.2	2	12494465 (1)
10-formyltetrahydrofolate	82.4	6	8806778 (2), 19007868 (1), 1848231 (1)
purine	77.5	26	1887337 (2), 12234990 (1), 12501179 (1), 15777723 (1) (see all 12)
aminopterin	76.1	2	12494465 (1)
tomudex	73.6	2	12494465 (1)
aicar	70.9	4	12501179 (1), 10888335 (1), 13129585 (1), 13129586 (1)

About this table

1 PharmGKB drug compound relationship for GART gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
methotrexate	PD	15630450

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GART Sigma-Aldrich shRNA for GART
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): GART OriGene shRNA RFP (see all 4): GART OriGene basic RS shRNA (see all 4): GART OriGene siRNA (see all 4): GART
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GART

miRNA:		Sigma-Aldrich microRNA Mimics for GART Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GART
		Search SABiosciences for Assays for microRNAs that regulate GART

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): GART OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): GART OriGene untagged cDNA clones in CMV expression vector (see all 2): GART OriGene 3'-UTR Clone (see all 4): GART Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for GART

Primers:		OriGene genome-wide validated SYBR primer pairs: GART Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for GART: PPH10238A

REFSEQ mRNAs for GART gene (4 alternative transcripts):

NM_000819.4 NM_001136005.1 NM_001136006.1 NM_175085.2

Additional cDNA sequence:

AB208785.1 AF008655.1 AK292560.1 AK292897.1 AK295980.1 BC038958.1 BC068438.1 BC093641.1

BC101565.1 BC107712.1 BX648124.1 CR593828.1 CR622715.1 D32051.1 M32082.1 X54199.1

24/26 DOTS entries (see all 26):

DT.100036758 DT.121141404 DT.100819299 DT.456326 DT.121141007 DT.121141360 DT.75102580 DT.99940405

DT.121141111 DT.92446508 DT.427150 DT.91915247 DT.121141457 DT.92049909 DT.121141349 DT.92446506

DT.75116473 DT.121141517 DT.100819302 DT.92012505 DT.95184922 DT.121141430 DT.75100764 DT.95204743

24/426 AceView cDNA sequences (see all 426):

BQ440805 AA714722 BI333329 BQ711422 AI261568 AA401379 BE301651 BQ051498

BU169489 AI824313 CD513460 BQ691119 AA946891 BM821416 BM973301 BU188141

CR593828 AW251087 AI984390 BE889817 BI092026 BU154331 BQ477393 AU103716

highest scoring ESTs for GART:

X54199 AA545781 AL549507 AL552575 AL706291 AL710817 AU098888 AU127555 AU132979 BC038958

Unigene Cluster for GART:

Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

Hs.473648 [show with all ESTs]

Unigene Representative Sequence: BC068438

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for GART (see all 18)

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	·	12c	^
SP1:															-		-		-																										-		-				-
SP2:													-		-		-																												-		-				-
SP3:																																													-		-				-
SP4:																																													-		-				-
SP5:																																													-		-				-

ExUns:	13	^	14	^	15a	·	15b	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21a	·	21b	^	22	^	23	^	24a	·	24b	^	25a	·	25b	^	26	^	27	^	28
SP1:	-												-																-
SP2:	-												-																-
SP3:	-												-																-
SP4:	-
SP5:

About this scheme

ECgene alternative splicing isoforms for GART
18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000441403 ENST00000488791 ENST00000476524 ENST00000466882 ENST00000460305

ENST00000487155 ENST00000482663 ENST00000381831 ENST00000438059 ENST00000497313

ENST00000361093(uc002ysa.2) ENST00000424203(uc002yrz.2 uc010gmd.2 uc002yry.2)

ENST00000492008 ENST00000381815(uc002yrx.2) ENST00000414353 ENST00000426819

ENST00000430874 ENST00000366093

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

GART expression in normal and diseased human tissues

¹ / ² / ³

13 probe-sets matching GART gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38384_at²^{, 3}	U95-A	1	1.00	1.00	0.67	0.96	X54199	1.00	1.00	1.00	1
50801_at²	U95-B	1	0.38	1.00	0.33	0.96	--	--	--	--	--
87571_at*²^{, 3}	U95-E	1	--	--	0.15	1.11	AI961651	0.20	1.00	0.72	1
212379_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE966876	0.60	1.00	0.82	1
217445_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF008655	0.40	1.00	0.76	1
212378_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000819	0.60	1.00	0.82	1
230097_at²^{, 3}	U133-B	1	0.36	1.00	--	--	AI207338	0.40	1.00	0.76	1
210005_at²^{, 3}	U133-A	1	0.27	1.00	--	--	D32051	0.80	1.00	0.91	1
212379_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217445_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212378_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
230097_at²	U133Plus2	1	0.36	1.00	--	--	--	--	--	--	--
210005_at²	U133Plus2	1	0.27	1.00	--	--	--	--	--	--	--

About this table

GART for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

GART gene electronic northern expression

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.473648

Expression variation in blood from EXPOLDB for GART

Primers:		OriGene genome-wide validated SYBR primer pairs: GART Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for GART: PPH10238A

SABiosciences Custom PCR Arrays for GART

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GART gene from 5/22 species (see all 22)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	GART¹	--	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide more	99.5(n) 99.31(a)	458518 XM_514869.2 XP_514869.2
cow (Bos taurus)	GART¹	--	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide more	88.02(n) 88.42(a)	281183 NM_001040473.2 NP_001035563.1
rat (Rattus norvegicus)	Gart¹	--	phosphoribosylglycinamide formyltransferase	83.89(n) 86.53(a)	288259 XM_573258.2 XP_573258.1
mouse (Mus musculus)	Gart^{1 , 5}	16 (53.18 cM)⁵	phosphoribosylglycinamide formyltransferase^{1, 5}	83.2(n)¹ 85.94(a)¹	14450¹ NM_010256.2¹ NP_034386.2¹ AK146355⁵ AK146478⁵ (see all 53)
chicken (Gallus gallus)	GART¹	--	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide more	73.4(n) 75.1(a)	395315 NM_001001469.1 NP_001001469.1

About this table Species with no ortholog for GART

ENSEMBL Gene Tree for GART (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 21 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs8788^1,2	C,F,H,	34897113(-)	`AAGACA/G/TTCGGC`	12	I V F	mis¹ ref¹		26		MN NS EA NA WA	2042
rs8971^1,2	C,F,	34883618(-)	`GAGGGA/GTATCC`	6	D G	ref¹ mis¹		22		MN EA NA NS	3256
rs1023147^1,2	C	34888171(+)	`CTTTTG/AACCTA`	3	--	int¹		6		NA NS EA	584
rs1023353^1,2	C	34889118(+)	`ATAAAG/TACAGA`	3	--	int¹		0	--	--	--	--
rs1051053^1,2	F,H	34896424(-)	`TTTTAT/ACACTG`	4	--	int¹ ut3¹ ese³		5		MN NS EA	604
rs1804385^1,2	C,F,	34896962(+)	`TATCAC/GTCCCA`	4	--	int¹ ut3¹		14		NA MN EA WA	900
rs1804387^1,2	C	34911561(-)	`GGAAAC/TTTGCA`	8	L F	ref¹ mis¹		4		NS EA	418
rs2007041^1,2	C,	34894195(+)	`CAGGAC/TGCAGA`	3	--	int¹		5		NA WA	10
rs2007053^1,2	C,F,O,A,H,	34894315(+)	`CATGAT/CAGATG`	3	--	int¹		12		NA NS EA WA	649
rs2027592^1,2	C,F,A,H,	34902527(+)	`TGTGCA/CGAAAT`	4	--	int¹		9		NS EA NA WA	426

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HapMap Linkage Disequilibrium images for GART (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GART: --

QIAGEN SeqTarget long-range PCR primers for resequencing GART

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
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GART for disorders About GeneDecksing

OMIM: 138440

6 Novoseek disease relationships for GART gene

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome	35.7	2	9328467 (1), 19007868 (1)
amyotrophic lateral sclerosis	21.3	1	8358240 (1)
leukemia	3.56	2	2040032 (1)
tumors	0	4	12234990 (2), 7506026 (1)
carcinoma	0	3	14517211 (2), 12234990 (1)
cancer	0	1	17198385 (1)

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1 PharmGKB disease relationship for GART gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	PD	15630450

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Human Genome Epidemiology (HuGE) Navigator: GART (6 documents)

Export disorders and mutations for GART gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/76 PubMed articles for GART gene, integrated from 7 sources (see all 76):
(articles sorted by number of sources associating them with GART)

Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations. (PubMed id 2183217)^{1, 2, 7} Schild D.... Barr P.J. (1990)
Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. (PubMed id 2050105)^{1, 3, 7} Gnirke A....Olson M.V. (1991)
Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase gene. (PubMed id 9224613)^{1, 2, 7} Kan J.L.C. and Moran R.G. (1997)
De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli. (PubMed id 2147474)^{1, 2, 7} Aimi J.... Dixon J.E. (1990)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{1, 2} Rush J.... Comb M.J. (2005)
The apo and ternary complex structures of a chemotherapeutic target: human glycinamide ribonucleotide transformylase. (PubMed id 16026156)^{1, 2} Dahms T.E.... Smith J.L. (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)
Rational design, synthesis, evaluation, and crystal structure of a potent inhibitor of human GAR Tfase: 10-(trifluoroacetyl)-5,10- dideazaacyclic-5,6,7,8-tetrahydrofolic acid. (PubMed id 12755606)^{1, 2} Zhang Y.... Wilson I.A. (2003)
Crystal structures of human GAR Tfase at low and high pH and with substrate beta-GAR. (PubMed id 12450384)^{1, 2} Zhang Y....Wilson I.A. (2002)
Mouse cDNAs encoding a trifunctional protein of de novo purine synthesis and a related single-domain glycinamide ribonucleotide synthetase. (PubMed id 8299947)^{1, 7} Kan J.L....Moran R.G. (1993)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2618	HGNC: 4163	AceView: GART	Ensembl:ENSG00000159131	euGenes: HUgn2618
ECgene: GART	Kegg: 2618	H-InvDB: GART

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Intellectual Property for GART gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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Patent Information for GART gene:
Search GeneIP for patents involving GART

GeneCards and IP:
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