Reviewed,
UniProtKB/Swiss-Prot P23109 (AMPD1_HUMAN)
Last modified
July 7, 2009.
Version 81.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: AMP deaminase 1 EC=3.5.4.6 Alternative name(s): Myoadenylate deaminase AMP deaminase isoform M | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 747 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | AMP deaminase plays a critical role in energy metabolism. |
| Catalytic activity | AMP + H2O = IMP + NH3. |
| Pathway | Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1. |
| Subunit structure | Homotetramer. |
| Tissue specificity | Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes. |
| Involvement in disease | Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]. AMPDDM is a metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. Ref.5 |
| Sequence similarities | Belongs to the adenosine and AMP deaminases family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Nucleotide metabolism |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation |
| Molecular function | Hydrolase |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | purine base metabolic process Inferred from electronic annotation. Source: InterPro purine ribonucleoside monophosphate biosynthetic processInferred from electronic annotation. Source: InterPro |
| Molecular function | AMP deaminase activity Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 747 | 747 | AMP deaminase 1 | PRO_0000194403 | |||||
Sites | |||||||||
| Active site | 363 | 1 | By similarity | ||||||
| Active site | 573 | 1 | By similarity | ||||||
| Active site | 649 | 1 | By similarity | ||||||
| Active site | 650 | 1 | By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 22 | 1 | E → K: dbSNP rs2273268. | VAR_048860 | |||||
| Natural variant | 48 | 1 | P → L Polymorphism; activity comparable to wild-type. Ref.4 | VAR_013270 | |||||
| Natural variant | 388 | 1 | R → W in AMPDDM; loss of activity. Ref.5 | VAR_013271 | |||||
| Natural variant | 425 | 1 | R → H in AMPDDM; loss of activity. Ref.5 | VAR_013272 | |||||
| Natural variant | 633 | 1 | P → H in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_035801 | |||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
M37931 M37930 Genomic DNA. Translation: AAG24258.1. M60092 mRNA. Translation: AAA57281.1. AL096773 Genomic DNA. Translation: CAI18830.1. | |
| IPI | IPI00448879. |
| PIR | I39444. |
| RefSeq | NP_000027.1. |
| UniGene | Hs.89570 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P23109. |
Proteomic databases | |
| PRIDE | P23109. |
Genome annotation databases | |
| Ensembl | ENSG00000116748. Homo sapiens. [Contig view] |
| GeneID | 270. |
| KEGG | hsa:270. |
| UCSC | uc001efe.1. human. |
Organism-specific databases | |
| GeneCards | GC01M114927. |
| H-InvDB | HIX0000913. |
| HGNC | HGNC:468. AMPD1. |
| MIM | 102770. gene+phenotype. |
| Orphanet | 45. Adenosine monophosphate deaminase deficiency. |
| PharmGKB | PA24776. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P23109. |
Enzyme and pathway databases | |
| BRENDA | 3.5.4.6. 247. |
| Reactome | REACT_1698. Metablism of nucleotides. |
Gene expression databases | |
| ArrayExpress | P23109. |
| Bgee | P23109. |
| CleanEx | HS_AMPD1. |
| GermOnline | ENSG00000116748. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006650. A/AMP_deam_AS. IPR001365. A/AMP_deaminase. IPR006329. AMP_deaminase. IPR016297. AMP_deaminase_met. [Graphical view] |
| Pfam | PF00962. A_deaminase. 1 hit. [Graphical view] |
| PIRSF | PIRSF001251. AMP_deaminase_met. 1 hit. |
| TIGRFAMs | TIGR01429. AMP_deaminase. 1 hit. |
| PROSITE | PS00485. A_DEAMINASE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00131. Adenosine monophosphate. |
| NextBio | 1061. |
| SOURCE | Search... |
Entry information
| Entry name | AMPD1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P23109 Secondary accession number(s): Q5TF00 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


