ACE angiotensin I converting enzyme [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACEprovided by HGNC
Official Full Name: angiotensin I converting enzymeprovided by HGNC
Primary source: HGNC:HGNC:2707
See related: Ensembl:ENSG00000159640 MIM:106180; AllianceGenome:HGNC:2707
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DCP; ACE1; DCP1; CD143
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-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression: Biased expression in small intestine (RPKM 118.5), duodenum (RPKM 76.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (63477061..63498373)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (64347269..64368872)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (61554422..61575734)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between a single-nucleotide polymorphism of the angiotensin-converting enzyme gene and susceptibility to systemic lupus erythematosus in the Hainanese population of China.
Title: Association between a single-nucleotide polymorphism of the angiotensin-converting enzyme gene and susceptibility to systemic lupus erythematosus in the Hainanese population of China.
Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case-Control Study.
Title: Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case-Control Study.
Association of ACE*(Insertion/Deletion) Variant with the Elevated Risk of Preeclampsia Among Gestational Women.
Title: Association of ACE*(Insertion/Deletion) Variant with the Elevated Risk of Preeclampsia Among Gestational Women.
Interaction between angiotensin-converting enzyme gene rs4343 polymorphism, environment factors, and angiotensin II level on susceptibility to knee osteoarthritis.
Title: Interaction between angiotensin-converting enzyme gene rs4343 polymorphism, environment factors, and angiotensin II level on susceptibility to knee osteoarthritis.
Gene variants rs5182, rs2074192, and rs4343 in the renin-angiotensin-aldosterone system are associated with symptom severity, higher odds of hospitalization, and death in COVID-19.
Title: Gene variants rs5182, rs2074192, and rs4343 in the renin-angiotensin-aldosterone system are associated with symptom severity, higher odds of hospitalization, and death in COVID-19.
Association between ACE1 and missed abortion: ACE1 promotes H2O2-induced trophoblast cell injury in vitrodagger.
Title: Association between ACE1 and missed abortion: ACE1 promotes H2O2-induced trophoblast cell injury in vitro†.
Role of angiotensin converting enzyme in pathogenesis associated with immunity in cardiovascular diseases.
Title: Role of angiotensin converting enzyme in pathogenesis associated with immunity in cardiovascular diseases.
Proteomic Analysis of Human Macrophages Overexpressing Angiotensin-Converting Enzyme.
Title: Proteomic Analysis of Human Macrophages Overexpressing Angiotensin-Converting Enzyme.
Associations of ACE I/D and AGTR1 rs5182 polymorphisms with diabetes and their effects on lipids in an elderly Chinese population.
Title: Associations of ACE I/D and AGTR1 rs5182 polymorphisms with diabetes and their effects on lipids in an elderly Chinese population.
ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population.
Title: ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population.

Submit: New GeneRIF Correction See all GeneRIFs (1683)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Disorder of cardiovascular system MedGen: C0007222 GeneReviews: Not available	Compare labs
Hemorrhage, intracerebral, susceptibility to MedGen: C3281105 OMIM: 614519 GeneReviews: Not available	Compare labs
Microvascular complications of diabetes, susceptibility to, 3 MedGen: C2675470 OMIM: 612624 GeneReviews: Not available	Compare labs
Renal tubular dysgenesis of genetic origin MedGen: C5681536 OMIM: 267430 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants influencing human serum metabolome among African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160-derived peptide p18 presented by H-2Dd class I major histocompatibility complex molecules is processed by angiotensin-1 converting enzyme (ACE) prior to T cell stimulation by the peptide p18	PubMed

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57821 (e-PCR)
- UniSTS:19461

SHGC-175 (e-PCR)
- UniSTS:25620

ACE (e-PCR)
- UniSTS:504596

GDB:186915 (e-PCR)
- UniSTS:155520

PMC310924P2 (e-PCR)
- UniSTS:272813

PMC310924P3 (e-PCR)
- UniSTS:272814

G59596 (e-PCR)
- UniSTS:136900

RH17589 (e-PCR)
- UniSTS:50661

GDB:631883 (e-PCR)
- UniSTS:158438

GDB:631894 (e-PCR)
- UniSTS:158439

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables bradykinin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables carboxypeptidase activity	IEA Inferred from Electronic Annotation more info
enables chloride ion binding	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables exopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metallocarboxypeptidase activity	IEA Inferred from Electronic Annotation more info
enables metallodipeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metallopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metallopeptidase activity	IEA Inferred from Electronic Annotation more info
enables metallopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metallopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables mitogen-activated protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables mitogen-activated protein kinase kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidyl-dipeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-dipeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidyl-dipeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidyl-dipeptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables peptidyl-dipeptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tripeptidyl-peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid-beta metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in angiotensin maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiotensin maturation	IC Inferred by Curator more info	PubMed
involved_in angiotensin maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in angiotensin maturation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within angiotensin-activated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in angiotensin-activated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in angiotensin-activated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in antigen processing and presentation of peptide antigen via MHC class I	TAS Traceable Author Statement more info	PubMed
involved_in arachidonate secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in blood vessel diameter maintenance	IC Inferred by Curator more info	PubMed
involved_in blood vessel remodeling	IC Inferred by Curator more info	PubMed
involved_in bradykinin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cell proliferation in bone marrow	IEA Inferred from Electronic Annotation more info
involved_in cell proliferation in bone marrow	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart contraction	IEA Inferred from Electronic Annotation more info
involved_in heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic stem cell differentiation	IC Inferred by Curator more info	PubMed
involved_in hormone catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hormone catabolic process	IEA Inferred from Electronic Annotation more info
involved_in hormone catabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in hormone metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within kidney development	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within maintenance of blood vessel diameter homeostasis by renin-angiotensin	IDA Inferred from Direct Assay more info	PubMed
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in mononuclear cell proliferation	IC Inferred by Curator more info	PubMed
involved_in negative regulation of gap junction assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gap junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neutrophil mediated immunity	IEA Inferred from Electronic Annotation more info
involved_in neutrophil mediated immunity	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in post-transcriptional regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in regulation of angiotensin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate by cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of hematopoietic stem cell proliferation	IC Inferred by Curator more info	PubMed
involved_in regulation of hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of hematopoietic stem cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of renal output by angiotensin	IC Inferred by Curator more info	PubMed
involved_in regulation of smooth muscle cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of systemic arterial blood pressure by renin-angiotensin	IC Inferred by Curator more info	PubMed
involved_in regulation of systemic arterial blood pressure by renin-angiotensin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vasoconstriction	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in substance P catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within vasodilation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: angiotensin-converting enzyme

Names: CD143 antigen; angiotensin I converting enzyme (peptidyl-dipeptidase A) 1; carboxycathepsin; dipeptidyl carboxypeptidase 1; dipeptidyl carboxypeptidase I; kininase II; peptidase P

NP_000780.1

EC 3.4.15.1

NP_001171528.1

EC 3.4.15.1

NP_001369629.1

EC 3.4.15.1

NP_001369630.1

EC 3.4.15.1

NP_001369631.1

EC 3.4.15.1

NP_690043.1

EC 3.4.15.1

XP_006721800.3

EC 3.4.15.1

XP_054171272.1

EC 3.4.15.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011648.1 RefSeqGene

Range

4989..26301

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000789.4 → NP_000780.1 angiotensin-converting enzyme isoform 1 precursor

See identical proteins and their annotated locations for NP_000780.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as the endothelial or somatic form, represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB208971, AC113554, AK296566

Consensus CDS

CCDS11637.1

UniProtKB/Swiss-Prot

B0LPF0, B4DXI3, E7EU16, P12821, P22966, Q53YX9, Q59GY8, Q7M4L4

UniProtKB/TrEMBL

A0A0A0MSN4, I3UJJ7

Related

ENSP00000290866.4, ENST00000290866.10

Conserved Domains (1) summary

pfam01401
Location:643 → 1221

Peptidase_M2; Angiotensin-converting enzyme
NM_001178057.2 → NP_001171528.1 angiotensin-converting enzyme isoform 3 precursor

See identical proteins and their annotated locations for NP_001171528.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks multiple 5' exons and an in-frame exon in the 3' region, but has an alternate 5' exon, compared to variant 1. The resulting isoform (3) is shorter, and has a distinct N-terminus and lacks an internal segment, compared to isoform 1.

Source sequence(s)

AB208971, AC113554, AK301988, BM908222, M26657

Consensus CDS

CCDS54155.1

UniProtKB/TrEMBL

F6X3S4, L7MUH0

Related

ENSP00000392247.3, ENST00000413513.7

Conserved Domains (1) summary

pfam01401
Location:69 → 606

Peptidase_M2; Angiotensin-converting enzyme
NM_001382700.1 → NP_001369629.1 angiotensin-converting enzyme isoform 4

Status: REVIEWED

Source sequence(s)

AC113554

Conserved Domains (2) summary

pfam01401
Location:454 → 1032

Peptidase_M2; Angiotensin-converting enzyme

cl14813
Location:184 → 434

GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
NM_001382701.1 → NP_001369630.1 angiotensin-converting enzyme isoform 5

Status: REVIEWED

Source sequence(s)

AC113554

Conserved Domains (2) summary

pfam01401
Location:359 → 937

Peptidase_M2; Angiotensin-converting enzyme

cl14813
Location:1 → 339

GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
NM_001382702.1 → NP_001369631.1 angiotensin-converting enzyme isoform 6

Status: REVIEWED

Source sequence(s)

AC113554

UniProtKB/TrEMBL

B4DXK6

Conserved Domains (1) summary

pfam01401
Location:1 → 426

Peptidase_M2; Angiotensin-converting enzyme
NM_152830.3 → NP_690043.1 angiotensin-converting enzyme isoform 2 precursor

See identical proteins and their annotated locations for NP_690043.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as the testicular form, lacks multiple 5' exons, but has an alternate 5' exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AB208971, AC113554, BM908222, M26657

Consensus CDS

CCDS45755.1

UniProtKB/TrEMBL

F6X3S4, L7MUH0

Related

ENSP00000290863.6, ENST00000290863.10

Conserved Domains (1) summary

pfam01401
Location:69 → 647

Peptidase_M2; Angiotensin-converting enzyme

RNA

NR_168483.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC113554

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

63477061..63498373

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721737.4 → XP_006721800.3 angiotensin-converting enzyme isoform X1

UniProtKB/TrEMBL

B4DXK6

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

64347269..64368872

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315297.1 → XP_054171272.1 angiotensin-converting enzyme isoform X1

UniProtKB/TrEMBL

B4DXK6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152831.1: Suppressed sequence

Description

NM_152831.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.