Seroatlas · Human Serome Atlas

AMPD1

AMP deaminase 1

Also known as: AMPD1_HUMAN, MAD, MADA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P23109
Gene: AMPD1
Ensembl: ENSG00000116748
Chromosome: 1
Canonical length: 747 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Quaternary structure: Homotetramer

OverviewNCBI Gene

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

747 residues, UniProt reviewed canonical sequence.

>P23109|AMPD1
     1  MPLFKLPAEE KQIDDAMRNF AEKVFASEVK DEGGRQEISP FDVDEICPIS HHEMQAHIFH
    61  LETLSTSTEA RRKKRFQGRK TVNLSIPLSE TSSTKLSHID EYISSSPTYQ TVPDFQRVQI
   121  TGDYASGVTV EDFEIVCKGL YRALCIREKY MQKSFQRFPK TPSKYLRNID GEAWVANESF
   181  YPVFTPPVKK GEDPFRTDNL PENLGYHLKM KDGVVYVYPN EAAVSKDEPK PLPYPNLDTF
   241  LDDMNFLLAL IAQGPVKTYT HRRLKFLSSK FQVHQMLNEM DELKELKNNP HRDFYNCRKV
   301  DTHIHAAACM NQKHLLRFIK KSYQIDADRV VYSTKEKNLT LKELFAKLKM HPYDLTVDSL
   361  DVHAGRQTFQ RFDKFNDKYN PVGASELRDL YLKTDNYING EYFATIIKEV GADLVEAKYQ
   421  HAEPRLSIYG RSPDEWSKLS SWFVCNRIHC PNMTWMIQVP RIYDVFRSKN FLPHFGKMLE
   481  NIFMPVFEAT INPQADPELS VFLKHITGFD SVDDESKHSG HMFSSKSPKP QEWTLEKNPS
   541  YTYYAYYMYA NIMVLNSLRK ERGMNTFLFR PHCGEAGALT HLMTAFMIAD DISHGLNLKK
   601  SPVLQYLFFL AQIPIAMSPL SNNSLFLEYA KNPFLDFLQK GLMISLSTDD PMQFHFTKEP
   661  LMEEYAIAAQ VFKLSTCDMC EVARNSVLQC GISHEEKVKF LGDNYLEEGP AGNDIRRTNV
   721  AQIRMAYRYE TWCYELNLIA EGLKSTE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMPD1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 538 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 538 nTPM
tongue: 202 nTPM
duodenum: 16 nTPM
small intestine: 7.1 nTPM
esophagus: 5.6 nTPM
colon: 5.3 nTPM

Single-cell type

myonuclei: 908 nCPM
plasma cells: 78 nCPM
thymic myoid cells: 71 nCPM
myosatellite cells: 8.1 nCPM
gonadotrophs: 5.6 nCPM
fibro-adipogenic progenitors: 4.7 nCPM

Immune cell

memory B-cell: 0.9 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

spinal cord: 0.1 nTPM
amygdala: 0 nTPM
basal ganglia: 0 nTPM
cerebellum: 0 nTPM
cerebral cortex: 0 nTPM
choroid plexus: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMPD1.

Disease | AllUniProt

Conditions AMPD1 is implicated in, by any mechanism.

Myopathy due to myoadenylate deaminase deficiency (MMDD) MIM:615511

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 593 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Muscle AMP deaminase deficiency

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): 1.2
gnomAD pLI: 0
gnomAD missense Z: -0.46
DepMap mean gene effect: -0.17
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AMPD1 as an antibody target. Whether an autoantibody or antibody against AMPD1 could matter depends on whether native AMPD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AMPD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AMPD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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