InnateDB Protein
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IDBP-63268.6
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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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ACE
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Protein Name
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angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
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Synonyms
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ACE1; CD143; DCP; DCP1; ICH; MVCD3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000290866
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InnateDB Gene
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IDBG-63266 (ACE)
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Protein Structure
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Function |
Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety.
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Subcellular Localization |
Angiotensin-converting enzyme, soluble form: Secreted.Cell membrane; Single-pass type I membrane protein. Cytoplasm {ECO:0000250}. Note=Detected in both cell membrane and cytoplasm in neurons. {ECO:0000250}.
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Disease Associations |
Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269PubMed:16116425}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end- stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269PubMed:15277638}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. {ECO:0000269PubMed:10924499, ECO:0000269PubMed:10969042, ECO:0000269PubMed:12459472, ECO:0000269PubMed:15671045}.
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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 20 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
20
[view]
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Protein-Protein |
19
[view]
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Protein-DNA |
1
[view]
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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 |
IPR001548
Peptidase M2, peptidyl-dipeptidase A
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PFAM |
PF01401
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PRINTS |
PR00791
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P12821
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PhosphoSite |
PhosphoSite-P12821
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TrEMBL |
Q3KRI5
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UniProt Splice Variant |
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Entrez Gene |
1636
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UniGene |
Hs.712079
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RefSeq |
NP_000780
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HUGO |
HGNC:2707
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OMIM |
106180
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CCDS |
CCDS11637
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HPRD |
00108
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IMGT |
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EMBL |
AB208971
AC113554
AF118569
AK301988
AY436326
AY999972
AY999973
CH471109
EU332840
J04144
M26657
X16295
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GenPept |
AAA51684
AAA60611
AAD28560
AAR03504
ABA39228
ABA39229
ABY87529
BAD92208
BAG63395
CAA34362
EAW94319
EAW94321
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