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ACE (angiotensin I converting enzyme)

Identity

Other namesACE1
CD143
DCP
DCP1
ICH
MVCD3
HGNC (Hugo) ACE
LocusID (NCBI) 1636
Atlas_Id 46128
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 61554422 and ends at 61575741 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GTF2E2 (8p12) / ACE (17q23.3)KCNH6 (17q23.3) / ACE (17q23.3)KPNB1 (17q21.32) / ACE (17q23.3)
MLLT6 (17q12) / ACE (17q23.3)GTF2E2 8p12 / ACE 17q23.3MLLT6 17q12 / ACE 17q23.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ACE   2707
Cards
Entrez_Gene (NCBI)ACE  1636  angiotensin I converting enzyme
AliasesACE1; CD143; DCP; DCP1; 
ICH; MVCD3
GeneCards (Weizmann)ACE
Ensembl hg19 (Hinxton)ENSG00000159640 [Gene_View]  chr17:61554422-61575741 [Contig_View]  ACE [Vega]
Ensembl hg38 (Hinxton)ENSG00000159640 [Gene_View]  chr17:61554422-61575741 [Contig_View]  ACE [Vega]
ICGC DataPortalENSG00000159640
TCGA cBioPortalACE
AceView (NCBI)ACE
Genatlas (Paris)ACE
WikiGenes1636
SOURCE (Princeton)ACE
Genomic and cartography
GoldenPath hg19 (UCSC)ACE  -     chr17:61554422-61575741 +  17q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACE  -     17q23.3   [Description]    (hg38-Dec_2013)
EnsemblACE - 17q23.3 [CytoView hg19]  ACE - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBIACE [Mapview hg19]  ACE [Mapview hg38]
OMIM104300   106180   267430   612624   614519   
Gene and transcription
Genbank (Entrez)AB208971 AK296566 AK300516 AK301988 AK302019
RefSeq transcript (Entrez)NM_000789 NM_001178057 NM_152830 NM_152831
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_011648 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)ACE
Cluster EST : UnigeneHs.298469 [ NCBI ]
CGAP (NCI)Hs.298469
Alternative Splicing GalleryENSG00000159640
Gene ExpressionACE [ NCBI-GEO ]   ACE [ EBI - ARRAY_EXPRESS ]   ACE [ SEEK ]   ACE [ MEM ]
Gene Expression Viewer (FireBrowse)ACE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1636
GTEX Portal (Tissue expression)ACE
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12821 (Uniprot)
NextProtP12821  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12821
Splice isoforms : SwissVarP12821 (Swissvar)
Catalytic activity : Enzyme3.2.1.- [ Enzyme-Expasy ]   3.2.1.-3.2.1.- [ IntEnz-EBI ]   3.2.1.- [ BRENDA ]   3.2.1.- [ KEGG ]   
PhosPhoSitePlusP12821
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)Peptidase_M2   
Domain families : Pfam (Sanger)Peptidase_M2 (PF01401)   
Domain families : Pfam (NCBI)pfam01401   
DMDM Disease mutations1636
Blocks (Seattle)ACE
PDB (SRS)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   
PDB (PDBSum)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   
PDB (IMB)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   
PDB (RSDB)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   
Structural Biology KnowledgeBase1O86    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   
SCOP (Structural Classification of Proteins)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   
CATH (Classification of proteins structures)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   
SuperfamilyP12821
Human Protein AtlasENSG00000159640
Peptide AtlasP12821
HPRD00108
IPIIPI00437751   IPI00877100   IPI00028147   IPI01009299   IPI00796552   IPI00909226   
Protein Interaction databases
DIP (DOE-UCLA)P12821
IntAct (EBI)P12821
FunCoupENSG00000159640
BioGRIDACE
STRING (EMBL)ACE
ZODIACACE
Ontologies - Pathways
QuickGOP12821
Ontology : AmiGOkidney development  blood vessel remodeling  angiotensin maturation  angiotensin catabolic process in blood  regulation of renal output by angiotensin  neutrophil mediated immunity  antigen processing and presentation of peptide antigen via MHC class I  regulation of systemic arterial blood pressure by renin-angiotensin  regulation of systemic arterial blood pressure by renin-angiotensin  actin binding  endopeptidase activity  carboxypeptidase activity  protein binding  extracellular region  extracellular space  lysosome  endosome  plasma membrane  plasma membrane  spermatogenesis  drug binding  regulation of blood pressure  metallopeptidase activity  metallopeptidase activity  exopeptidase activity  tripeptidyl-peptidase activity  peptidyl-dipeptidase activity  peptidyl-dipeptidase activity  zinc ion binding  external side of plasma membrane  regulation of smooth muscle cell migration  integral component of membrane  regulation of vasoconstriction  chloride ion binding  mitogen-activated protein kinase kinase binding  bradykinin receptor binding  mononuclear cell proliferation  regulation of vasodilation  hormone catabolic process  hormone catabolic process  peptide catabolic process  beta-amyloid metabolic process  arachidonic acid secretion  mitogen-activated protein kinase binding  heart contraction  regulation of angiotensin metabolic process  hematopoietic stem cell differentiation  positive regulation of protein tyrosine kinase activity  extracellular exosome  metallodipeptidase activity  cell proliferation in bone marrow  positive regulation of peptidyl-tyrosine autophosphorylation  regulation of hematopoietic stem cell proliferation  regulation of hematopoietic stem cell proliferation  negative regulation of gap junction assembly  positive regulation of peptidyl-cysteine S-nitrosylation  
Ontology : EGO-EBIkidney development  blood vessel remodeling  angiotensin maturation  angiotensin catabolic process in blood  regulation of renal output by angiotensin  neutrophil mediated immunity  antigen processing and presentation of peptide antigen via MHC class I  regulation of systemic arterial blood pressure by renin-angiotensin  regulation of systemic arterial blood pressure by renin-angiotensin  actin binding  endopeptidase activity  carboxypeptidase activity  protein binding  extracellular region  extracellular space  lysosome  endosome  plasma membrane  plasma membrane  spermatogenesis  drug binding  regulation of blood pressure  metallopeptidase activity  metallopeptidase activity  exopeptidase activity  tripeptidyl-peptidase activity  peptidyl-dipeptidase activity  peptidyl-dipeptidase activity  zinc ion binding  external side of plasma membrane  regulation of smooth muscle cell migration  integral component of membrane  regulation of vasoconstriction  chloride ion binding  mitogen-activated protein kinase kinase binding  bradykinin receptor binding  mononuclear cell proliferation  regulation of vasodilation  hormone catabolic process  hormone catabolic process  peptide catabolic process  beta-amyloid metabolic process  arachidonic acid secretion  mitogen-activated protein kinase binding  heart contraction  regulation of angiotensin metabolic process  hematopoietic stem cell differentiation  positive regulation of protein tyrosine kinase activity  extracellular exosome  metallodipeptidase activity  cell proliferation in bone marrow  positive regulation of peptidyl-tyrosine autophosphorylation  regulation of hematopoietic stem cell proliferation  regulation of hematopoietic stem cell proliferation  negative regulation of gap junction assembly  positive regulation of peptidyl-cysteine S-nitrosylation  
Pathways : BIOCARTAAngiotensin-converting enzyme 2 regulates heart function [Genes]   
Pathways : KEGGRenin-angiotensin system    Chagas disease (American trypanosomiasis)    Hypertrophic cardiomyopathy (HCM)   
NDEx Network
Atlas of Cancer Signalling NetworkACE
Wikipedia pathwaysACE
Orthology - Evolution
OrthoDB1636
GeneTree (enSembl)ENSG00000159640
Phylogenetic Trees/Animal Genes : TreeFamACE
Homologs : HomoloGeneACE
Homology/Alignments : Family Browser (UCSC)ACE
Gene fusions - Rearrangements
Fusion: TCGAGTF2E2 8p12 ACE 17q23.3 LUAD
Fusion: TCGAMLLT6 17q12 ACE 17q23.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerACE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACE
dbVarACE
ClinVarACE
1000_GenomesACE 
Exome Variant ServerACE
ExAC (Exome Aggregation Consortium)ACE (select the gene name)
Genetic variants : HAPMAP1636
Genomic Variants (DGV)ACE [DGVbeta]
Mutations
ICGC Data PortalACE 
TCGA Data PortalACE 
Broad Tumor PortalACE
OASIS PortalACE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ACE
DgiDB (Drug Gene Interaction Database)ACE
DoCM (Curated mutations)ACE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACE (select a term)
intoGenACE
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:61554422-61575741  ENSG00000159640
CONAN: Copy Number AnalysisACE 
Mutations and Diseases : HGMDACE
OMIM104300    106180    267430    612624    614519   
MedgenACE
Genetic Testing Registry ACE
NextProtP12821 [Medical]
TSGene1636
GENETestsACE
Huge Navigator ACE [HugePedia]
snp3D : Map Gene to Disease1636
BioCentury BCIQACE
ClinGenACE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1636
Chemical/Pharm GKB GenePA139
Clinical trialACE
Miscellaneous
canSAR (ICR)ACE (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACE
EVEXACE
GoPubMedACE
iHOPACE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:01:38 CEST 2016

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