InnateDB Protein
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IDBP-100861.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AMPD2
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Protein Name
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adenosine monophosphate deaminase 2
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Synonyms
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PCH9; SPG63;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000256578
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InnateDB Gene
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IDBG-100855 (AMPD2)
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Protein Structure
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Function |
AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle. {ECO:0000269PubMed:23911318}.
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Subcellular Localization |
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Disease Associations |
Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. {ECO:0000269PubMed:23911318}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 63, autosomal recessive (SPG63) [MIM:615686]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in cerebellum. 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. {ECO:0000269PubMed:23911318}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001365
Adenosine/AMP deaminase domain
IPR006329
AMP deaminase
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PFAM |
PF00962
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PRINTS |
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PIRSF |
PIRSF001251
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q01433
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PhosphoSite |
PhosphoSite-Q01433
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TrEMBL |
E9PIJ1
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UniProt Splice Variant |
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Entrez Gene |
271
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UniGene |
Hs.82927
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RefSeq |
NP_004028
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HUGO |
HGNC:469
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OMIM |
102771
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CCDS |
CCDS805
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HPRD |
11808
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IMGT |
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EMBL |
AK296394
AK302939
AL355310
BC007711
BC075844
CH471122
M91029
S47833
U16267
U16268
U16269
U16270
U16271
U16272
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GenPept |
AAA11725
AAA62126
AAA62127
AAB06511
AAC50306
AAC50307
AAC50308
AAC50309
AAD56302
AAD56303
AAH07711
AAH75844
BAG59062
BAG64097
CAI19305
CAI19307
EAW56396
EAW56398
EAW56399
EAW56400
EAW56401
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