Property Summary

NCBI Gene PubMed Count 38
PubMed Score 210.43
PubTator Score 147.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ovarian cancer 8492 5.31391076200879E-12
Breast cancer 3099 7.72267806756123E-7
intraductal papillary-mucinous carcinoma (IPMC) 2988 2.26543851137406E-5
cutaneous lupus erythematosus 1056 1.96823761684521E-4
interstitial cystitis 2299 3.73051463690515E-4
Down syndrome 548 5.90187301748083E-4
osteosarcoma 7933 7.30850186427735E-4
psoriasis 6685 9.77574639108141E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00126257943056454
pilocytic astrocytoma 3086 0.00134611638846646
lung cancer 4473 0.00233967095129616
pancreatic cancer 2300 0.00349267575367328
group 3 medulloblastoma 2254 0.00425650667768064
aldosterone-producing adenoma 664 0.0055353085283521
primary pancreatic ductal adenocarcinoma 1271 0.00583107286189196
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00983560766704061
medulloblastoma, large-cell 6234 0.00991519840871124
lung adenocarcinoma 2714 0.0146085361437531
sarcoidosis 368 0.0178503427442869
nephrosclerosis 329 0.0191571778866686
atypical teratoid / rhabdoid tumor 4369 0.0380997453276799
adult high grade glioma 2148 0.0433765677405837
subependymal giant cell astrocytoma 2287 0.0474308455792177
Disease Target Count Z-score Confidence
Kidney disease 397 0.0 2.0
Disease Target Count Z-score Confidence
AGAT deficiency 6 7.087 3.5

Expression

Synonym

Accession P50440 B4DH99 B4DPI3 Q53EQ4
Symbols AT
AGAT
CCDS3

Gene

PDB

1JDW   1JDX   2JDW   2JDX   3JDW   4JDW   5JDW   6JDW   7JDW   8JDW   9JDW  

  Ortholog (12)

 GWAS Trait (1)

Gene RIF (8)

PMID Text
26490222 AGAT deficiency is a treatable intellectual disability.
25863251 Meta-analysis yielded a marginal, but null, association of GATM rs9806699 with statin-induced myopathy.
24004504 Genome-wide association reveals that plasma homoarginine is strongly associated with single nucleotide polymorphisms in the AGAT gene.
23010440 promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis
20877624 Observational study of gene-disease association. (HuGE Navigator)
20682460 GATM sequencing revealed a homozygous single nucleotide insertion 1111_1112insA, producing a frame-shift at Met-371 and premature termination at codon 376.
19430482 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
16820567 AGAT mRNA expression was significantly elevated in all heart failure patients and returned to normal levels after recovery, suggesting a specific response to heart failure involving elevated local creatine synthesis.

AA Sequence

MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYN      1 - 70
EWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVT     71 - 140
VRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKW    141 - 210
TTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEW    211 - 280
MRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHP    281 - 350
LWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS    351 - 420
YLD                                                                       421 - 423
//

Text Mined References (44)

PMID Year Title
27233232 2016 Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
26490222 2015 Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25863251 2015 GATM polymorphism associated with the risk for statin-induced myopathy does not replicate in case-control analysis of 715 dyslipidemic individuals.
24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24047826 2013 Genome-wide association study identifies 3 genomic loci significantly associated with serum levels of homoarginine: the AtheroRemo Consortium.
24004504 2013 Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies.
23770102 2013 Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
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