GATM

Protein identityUniProt · HPA

UniProt accession

P50440

Gene

GATM

Ensembl

ENSG00000171766

Chromosome

15

Canonical length

423 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

423 residues, UniProt reviewed canonical sequence.

>P50440|GATM
     1  MLRVRCLRGG SRGAEAVHYI GSRLGRTLTG WVQRTFQSTQ AATASSRNSC AADDKATEPL
    61  PKDCPVSSYN EWDPLEEVIV GRAENACVPP FTIEVKANTY EKYWPFYQKQ GGHYFPKDHL
   121  KKAVAEIEEM CNILKTEGVT VRRPDPIDWS LKYKTPDFES TGLYSAMPRD ILIVVGNEII
   181  EAPMAWRSRF FEYRAYRSII KDYFHRGAKW TTAPKPTMAD ELYNQDYPIH SVEDRHKLAA
   241  QGKFVTTEFE PCFDAADFIR AGRDIFAQRS QVTNYLGIEW MRRHLAPDYR VHIISFKDPN
   301  PMHIDATFNI IGPGIVLSNP DRPCHQIDLF KKAGWTIITP PTPIIPDDHP LWMSSKWLSM
   361  NVLMLDEKRV MVDANEVPIQ KMFEKLGITT IKVNIRNANS LGGGFHCWTC DVRRRGTLQS
   421  YLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GATM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

2,768 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GATM.

Disease | AllUniProt

Conditions GATM is implicated in, by any mechanism.

• Cerebral creatine deficiency syndrome 3 (CCDS3) MIM:612718
• Fanconi renotubular syndrome 1 (FRTS1) MIM:134600

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 668 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Arginine:glycine amidinotransferase deficiency
• Fanconi renotubular syndrome 1
• Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.53

gnomAD pLI

0.05

gnomAD missense Z

2.29

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• creatine biosynthetic process
• creatine metabolic process
• learning or memory
• muscle atrophy
• positive regulation of cold-induced thermogenesis

Molecular functions

• amidinotransferase activity
• glycine amidinotransferase activity

Cellular components

• extracellular exosome
• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Glycine/inosamine-phosphate amidinotransferase-like

KeywordsUniProt

• Acetylation
• Cytoplasm
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Transferase
• Transit peptide