ACE (angiotensin I converting enzyme)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1636
Gene name Gene Name - the full gene name approved by the HGNC.
Angiotensin I converting enzyme
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACE
Synonyms (NCBI Gene) Gene synonyms aliases
ACE1, CD143, DCP, DCP1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulatin
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs1799752 ->TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT Drug-response Intron variant
rs121912703 C>T Pathogenic Coding sequence variant, missense variant
rs121912704 C>A,G,T Pathogenic Coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs367797185 C>T Pathogenic, uncertain-significance Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs387906576 TGGA>- Pathogenic Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
miRTarBase ID miRNA Experiments Reference
MIRT018383 hsa-miR-335-5p Microarray 18185580
MIRT762467 hsa-miR-1324 CLIP-seq
MIRT762468 hsa-miR-148a CLIP-seq
MIRT762469 hsa-miR-148b CLIP-seq
MIRT762470 hsa-miR-152 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
CREM Activation 8901568
EGR1 Activation 12433834
EGR1 Unknown 14679188
HIF1A Activation 19592460
SP3 Unknown 14679188
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(106)
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0001822 Process Kidney development IMP 16116425
GO:0001822 Process Kidney development ISS
GO:0001974 Process Blood vessel remodeling IC 1668266
GO:0002003 Process Angiotensin maturation IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
106180 2707 ENSG00000159640
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P12821
Protein name Angiotensin-converting enzyme (ACE) (EC 3.4.15.1) (Dipeptidyl carboxypeptidase I) (Kininase II) (CD antigen CD143) [Cleaved into: Angiotensin-converting enzyme, soluble form]
Protein function Dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of a variety of circulating hormones, such as angiotensin I, bradykinin or enkephalins, thereby playing a key role in the regulation of blood pressure, electrolyte homeostas
PDB 1O86 , 1O8A , 1UZE , 1UZF , 2C6F , 2C6N , 2IUL , 2IUX , 2OC2 , 2XY9 , 2XYD , 2YDM , 3BKK , 3BKL , 3L3N , 3NXQ , 4APH , 4APJ , 4BXK , 4BZR , 4BZS , 4C2N , 4C2O , 4C2P , 4C2Q , 4C2R , 4CA5 , 4CA6 , 4UFA , 4UFB , 5AM8 , 5AM9 , 5AMA , 5AMB , 5AMC , 6EN5 , 6EN6 , 6F9R , 6F9T , 6F9U , 6F9V , 6H5W , 6H5X , 6QS1 , 6TT1 , 6TT3 , 6TT4 , 6ZPQ , 6ZPT , 6ZPU , 7Q24
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01401 Peptidase_M2 40 → 623 Angiotensin-converting enzyme Family
PF01401 Peptidase_M2 643 → 1221 Angiotensin-converting enzyme Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. {ECO:0000269|PubMed:10924499, ECO:0000269|PubMed:10969042, ECO:0000269|PubMed:12459472, ECO:0000269|PubMed:15671045}.; TISSUE SPE
Sequence 
MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQV
LFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRI
IGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSR
SYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDL
EHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPF
PDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCH
ASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAI
GDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFS
GRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQF
HEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLL
KYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTS
QVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRI
IKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKY
EDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLER
LFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHAS
AWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGD
VLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGS
ITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHE
ALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQW
LLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS
Sequence length 1306
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Renin-angiotensin system
Renin secretion
Chagas disease
Coronavirus disease - COVID-19
Hypertrophic cardiomyopathy
Diabetic cardiomyopathy 		  Metabolism of Angiotensinogen to Angiotensins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Angioedema Hereditary angioedema with normal C1Inh rs1599142041 N/A
Renal Tubular Dysgenesis Of Genetic Origin renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis rs367797185, rs778390161, rs779188587, rs121912704, rs387906576, rs397514688, rs397514689, rs797045079 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (329)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 35190362
Acute Coronary Syndrome Associate 11527624, 15012913, 22333273, 31195108, 9364295
Acute Disease Associate 18433037, 18702808
Acute Kidney Injury Associate 11918733
Acute Kidney Injury Stimulate 30973904
Acute Lung Injury Associate 18950526, 19021774, 21742477
Adenoma Associate 17898867
Albuminuria Associate 18622495, 8806248, 9551410
Alzheimer Disease Associate 10567488, 10978362, 11015454, 11501342, 16642441, 20121884, 21297258, 24679048, 26884824, 27546928, 28099631, 34937778, 35011591, 39378208, 39794838
Androgen Insensitivity Syndrome Stimulate 11300459