Homo sapiens Protein: ACE
Summary
InnateDB Protein IDBP-63268.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACE
Protein Name angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Synonyms ACE1; CD143; DCP; DCP1; ICH; MVCD3;
Species Homo sapiens
Ensembl Protein ENSP00000290866
InnateDB Gene IDBG-63266 (ACE)
Protein Structure
UniProt Annotation
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.
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}.
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.
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}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated
Total 20 [view]
Protein-Protein 19 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0004175 endopeptidase activity
GO:0004180 carboxypeptidase activity
GO:0005515 protein binding
GO:0008144 drug binding
GO:0008237 metallopeptidase activity
GO:0008241 peptidyl-dipeptidase activity
GO:0008270 zinc ion binding
GO:0031404 chloride ion binding
GO:0031711 bradykinin receptor binding
Biological Process
GO:0001822 kidney development
GO:0001974 blood vessel remodeling
GO:0002003 angiotensin maturation
GO:0002005 angiotensin catabolic process in blood
GO:0002019 regulation of renal output by angiotensin
GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin
GO:0006508 proteolysis
GO:0008217 regulation of blood pressure
GO:0014910 regulation of smooth muscle cell migration
GO:0019229 regulation of vasoconstriction
GO:0032943 mononuclear cell proliferation
GO:0042312 regulation of vasodilation
GO:0042447 hormone catabolic process
GO:0043171 peptide catabolic process
GO:0044267 cellular protein metabolic process
GO:0050482 arachidonic acid secretion
GO:0060218 hematopoietic stem cell differentiation
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001548 Peptidase M2, peptidyl-dipeptidase A
PFAM PF01401
PRINTS PR00791
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P12821
PhosphoSite PhosphoSite-P12821
TrEMBL Q3KRI5
UniProt Splice Variant
Entrez Gene 1636
UniGene Hs.712079
RefSeq NP_000780
HUGO HGNC:2707
OMIM 106180
CCDS CCDS11637
HPRD 00108
IMGT
EMBL AB208971 AC113554 AF118569 AK301988 AY436326 AY999972 AY999973 CH471109 EU332840 J04144 M26657 X16295
GenPept AAA51684 AAA60611 AAD28560 AAR03504 ABA39228 ABA39229 ABY87529 BAD92208 BAG63395 CAA34362 EAW94319 EAW94321