Gene Gene information from NCBI Gene database.
Entrez ID 1636
Gene name Angiotensin I converting enzyme
Gene symbol ACE
Synonyms (NCBI Gene)
ACE1CD143DCPDCP1
Chromosome 17
Chromosome location 17q23.3
Summary 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.
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.
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 Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
106180 2707 ENSG00000159640
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
KYFQPVTQWLQEQNQQNGEVLGW
PEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTS
QVVWNEYAEANWNYNTNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRI
IKKVQDLERAALPAQELEEYNKILLDMETTYSVATVCHPNGSCLQLEPDLTNVMATSRKY
EDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSWRSMYETPSLEQDLER
LFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHAS
AWDFYNGKDFRIKQCTTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGD
VLALSVSTPKHLHSLNLLSSEGGSDEHDINFLMKMALDKIAFIPFSYLVDQWRWRVFDGS
ITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPYIRYFVSFIIQFQFHE
ALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
FKPLLDWLRTENELHGEKLGW
PQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQW
LLLFLGIALLVATLGLSQRLFSIRHRSLHRHSHGPQFGSEVELRHS
Sequence length 1306
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Renin-angiotensin system
Renin secretion
Chagas disease
Coronavirus disease - COVID-19
Hypertrophic cardiomyopathy
Diabetic cardiomyopathy
  Metabolism of Angiotensinogen to Angiotensins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
117
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of prenatal development or birth Likely pathogenic; Pathogenic rs397514688 RCV001814028
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACE-related disorder Likely pathogenic; Pathogenic rs752411292, rs778759606, rs1568038811, rs2510688530, rs779188587, rs1278390159, rs754265941 RCV004552531
RCV004554240
RCV002308529
RCV004550717
RCV004550737
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital anomaly of kidney and urinary tract Likely pathogenic; Pathogenic rs1198993903 RCV001328043
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs779188587 RCV005932772
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 12471298, 15578201, 20570668, 23270441
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 31033180
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 31033180
★☆☆☆☆
Found in Text Mining only
Acquired angioedema Angioedema BEFREE 18204284, 27113957
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 10844381, 28712073
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance BEFREE 20161734
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke CTD_human_DG 15534175
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 10643899, 14872014, 17192785, 30820047, 9916793
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 16274774, 22333273, 28124399, 28973758, 30044377, 31105064, 31195108, 31255479, 8623745, 9322984, 9327770, 9364295
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24819208
★☆☆☆☆
Found in Text Mining only