Human Gene AMPD1 (ENST00000520113.7) from GENCODE V44
Description: Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. (from RefSeq NM_000036) RefSeq Summary (NM_000036): 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]. Gencode Transcript: ENST00000520113.7 Gencode Gene: ENSG00000116748.22 Transcript (Including UTRs) Position: hg38 chr1:114,673,098-114,695,546 Size: 22,449 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr1:114,673,114-114,695,471 Size: 22,358 Coding Exon Count: 16
ID:AMPD1_HUMAN DESCRIPTION: RecName: Full=AMP deaminase 1; EC=3.5.4.6; AltName: Full=AMP deaminase isoform M; AltName: Full=Myoadenylate deaminase; FUNCTION: AMP deaminase plays a critical role in energy metabolism. CATALYTIC ACTIVITY: AMP + H(2)O = IMP + NH(3). COFACTOR: Binds 1 zinc ion per subunit (By similarity). PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1. SUBUNIT: 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. 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. SIMILARITY: Belongs to the adenosine and AMP deaminases family. CAUTION: It is uncertain whether Met-1 or Met-34 is the initiator. SEQUENCE CAUTION: Sequence=AAA57281.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAG24258.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAF84038.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG36918.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI18828.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMPD1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P23109
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
