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Gene: GART (phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase) Homo sapiens
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Symbol: GART
Name: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
RGD ID: 1318653
Description: Predicted to have phosphoribosylamine-glycine ligase activity and phosphoribosylformylglycinamidine cyclo-ligase activity. Predicted to be involved in adenine biosynthetic process and purine nucleotide biosynthetic process. Localizes to extracellular exosome. Biomarker of Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIRS; GAR transformylase; GARS; GARS-AIRS-GART; GARTF; glycinamide ribonucleotide formyltransferase; glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase; MGC47764; PAIS; PGFT; PRGS; trifunctional purine biosynthetic protein adenosine-3
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2133,503,931 - 33,543,491 (-)EnsemblGRCh38hg38GRCh38
GRCh382133,503,931 - 33,542,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372134,876,238 - 34,915,223 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362133,798,139 - 33,836,286 (-)NCBINCBI36hg18NCBI36
Build 342133,818,186 - 33,836,286NCBI
Celera2120,075,872 - 20,114,832 (-)NCBI
Cytogenetic Map21q22.11ENTREZGENE
HuRef2120,354,547 - 20,393,666 (-)NCBIHuRef
CHM1_12134,438,919 - 34,477,881 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on GART
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318653
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.