ACE (GeneID: 1636) | Homo sapiens
Description: angiotensin I converting enzyme [Source:HGNC Symbol;Acc:HGNC:2707]
Synonyms: DCP1, ACE1, DCP, CD143
Other ID(s): HGNC:2707, ENSG00000159640
Protein Accession Numbers: ENST00000290863, ENST00000578839, ENST00000582678, ENST00000428043, ENST00000580318, NP_001369630, ENST00000290866.4, ENST00000579314, NP_000780, ENST00000538928, ENST00000582627, NP_690043, ENST00000421982, ENST00000579726, NP_001369629, ENST00000290866, ENST00000579204, ENST00000582761, ENST00000490216, ENST00000582005, NP_001369631, ENST00000413513, ENST00000579409, NP_001171528
Statistics: ClinVar(5)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000290863 ENST00000290866 ENST00000413513 ENST00000421982 ENST00000428043 ENST00000490216 ENST00000538928 ENST00000578839 ENST00000579204 ENST00000579314 ENST00000579409 ENST00000579726 ENST00000580318 ENST00000582005 ENST00000582627 ENST00000582678 ENST00000582761 NP_000780 NP_001171528 NP_001369629 NP_001369630 NP_001369631 NP_690043


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.367 0.897
Albuminuria Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Alcoholic Intoxication, Chronic Chemically-Induced Disorders ; Mental Disorders ; 0.367 0.897
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.367 0.897
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Cardiac Arrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Atrial Fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Autistic Disorder Mental Disorders ; 0.367 0.897
Berylliosis Respiratory Tract Diseases ; Occupational Diseases ; 0.367 0.897
Bipolar Disorder Mental Disorders ; 0.367 0.897
Cardiovascular Diseases Cardiovascular Diseases ; 0.367 0.897
Brain Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.367 0.897
Cerebrovascular Disorders Nervous System Diseases ; Cardiovascular Diseases ; 0.367 0.897
Coronary Arteriosclerosis Cardiovascular Diseases ; 0.367 0.897
Coronary heart disease Cardiovascular Diseases ; 0.367 0.897
Coughing Respiratory Tract Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Sudden death Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Depressive disorder Mental Disorders ; 0.367 0.897
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.367 0.897
Diabetic Nephropathy Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.367 0.897
Drug Allergy Immune System Diseases ; Chemically-Induced Disorders ; 0.367 0.897
Gaucher Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.367 0.897
IGA Glomerulonephritis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Immune System Diseases ; 0.367 0.897
Nodular glomerulosclerosis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.367 0.897
Glycogen Storage Disease Type V Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.367 0.897
Heart failure Cardiovascular Diseases ; 0.367 0.897
Congestive heart failure Cardiovascular Diseases ; 0.367 0.897
Hypercholesterolemia, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.367 0.897
Hypertensive disease Cardiovascular Diseases ; 0.367 0.897
Pulmonary Hypertension Respiratory Tract Diseases ; 0.367 0.897
Hypotension Cardiovascular Diseases ; 0.367 0.897
Infant, Premature, Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.367 0.897
Male infertility Male Urogenital Diseases ; 0.367 0.897
Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.367 0.897
Kidney Failure, Chronic Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.367 0.897
Left-Sided Heart Failure Cardiovascular Diseases ; 0.367 0.897
Lung diseases Respiratory Tract Diseases ; 0.367 0.897
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.367 0.897
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.367 0.897
Meningococcal Infections Bacterial Infections and Mycoses ; 0.367 0.897
Myocardial Infarction Cardiovascular Diseases ; 0.367 0.897
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Pneumonia, Viral Virus Diseases ; Respiratory Tract Diseases ; 0.367 0.897
Pre-Eclampsia Female Urogenital Diseases and Pregnancy Complications ; 0.367 0.897
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.367 0.897
Psychoses, Drug Chemically-Induced Disorders ; Mental Disorders ; 0.367 0.897
Psychoses, Substance-Induced Chemically-Induced Disorders ; Mental Disorders ; 0.367 0.897
Kidney Failure Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.367 0.897
Respiratory Tract Diseases Respiratory Tract Diseases ; 0.367 0.897
Schizophrenia Mental Disorders ; 0.367 0.897
Staphylococcal Infections Bacterial Infections and Mycoses ; 0.367 0.897
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.367 0.897
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.367 0.897
Cerebrovascular accident Nervous System Diseases ; Cardiovascular Diseases ; 0.367 0.897
Unipolar Depression Mental Disorders ; 0.367 0.897
Weight Gain Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Depressive Symptoms Behavior and Behavior Mechanisms ; 0.367 0.897
Left Ventricular Hypertrophy Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Vascular System Injuries Cardiovascular Diseases ; Wounds and Injuries ; 0.367 0.897
Adenocarcinoma, Basal Cell Neoplasms ; 0.367 0.897
Adenocarcinoma, Oxyphilic Neoplasms ; 0.367 0.897
Carcinoma, Cribriform Neoplasms ; 0.367 0.897
Carcinoma, Granular Cell Neoplasms ; 0.367 0.897
Adenocarcinoma, Tubular Neoplasms ; 0.367 0.897
Chronic schizophrenia N/A 0.367 0.897
Paroxysmal atrial fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Heart Failure, Right-Sided Cardiovascular Diseases ; 0.367 0.897
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.367 0.897
Allanson Pantzar McLeod syndrome Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.367 0.897
Gaucher Disease, Type 2 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.367 0.897
Gaucher Disease, Type 3 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.367 0.897
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Depressed mood N/A 0.367 0.897
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.367 0.897
Non-alcoholic Fatty Liver Disease Digestive System Diseases ; 0.367 0.897
H/O: depression N/A 0.367 0.897
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.367 0.897
Acute Cerebrovascular Accidents Nervous System Diseases ; Cardiovascular Diseases ; 0.367 0.897
Subfertility, Male Male Urogenital Diseases ; 0.367 0.897
Male sterility Male Urogenital Diseases ; 0.367 0.897
Cerebral Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.367 0.897
Coronary Restenosis Cardiovascular Diseases ; 0.367 0.897
Severe Acute Respiratory Syndrome Virus Diseases ; Respiratory Tract Diseases ; 0.367 0.897
Major Depressive Disorder Mental Disorders ; 0.367 0.897
Staphylococcus aureus infection Bacterial Infections and Mycoses ; 0.367 0.897
Renal Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.367 0.897
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.367 0.897
MAJOR AFFECTIVE DISORDER 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.367 0.897
Coronary Artery Disease Cardiovascular Diseases ; 0.367 0.897
Myocardial Failure Cardiovascular Diseases ; 0.367 0.897
Heart Decompensation Cardiovascular Diseases ; 0.367 0.897
Gaucher Disease, Type 1 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.367 0.897
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.367 0.897
Beryllium Disease Respiratory Tract Diseases ; Occupational Diseases ; 0.367 0.897
Persistent atrial fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding) N/A 0.367 0.897
Renal Tubular Dysgenesis With Choanal Atresia And Athelia Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.367 0.897
Cerebral Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
Nonalcoholic Steatohepatitis Digestive System Diseases ; 0.367 0.897
familial atrial fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.367 0.897
NO RESULT FOUND
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