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ACE Gene

protein-coding GIFtS: 71

GC17P058908

angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DCP1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ACE1 ^¹, ², ⁵
CD143 ^¹, ²
DCP ^², ³
DCP1 ^², ³, ⁵
EC 3.4.15.1,EC 3.2.1.- ^³
MGC26566 ^²
MVCD3 ^², ⁵
carboxycathepsin ^²

Descriptions
CD143 antigen ^², ³
Dipeptidyl carboxypeptidase I ^³
Kininase II ^², ³
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ^²
angiotensin I converting enzyme 1 ^²
angiotensin converting enzyme, somatic isoform ^²
dipeptidyl carboxypeptidase 1 ^²
peptidase P ^²
testicular ECA ^²

External Ids
HGNC: 2707¹
Entrez Gene: 1636²
UniProtKB: P12821³
Ensembl: ENSG00000159640⁷

Search outside databases for aliases for ACE gene

Previous GC identifers: GC17P061205 GC17P063980 GC17P061895 GC17P062027

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ACE:

This gene encodes an enzyme involved in catalyzing 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

enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence

or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or

cardiovascular pathophysiologies. Two most abundant alternatively spliced variants of this gene

encode two isozymes - the somatic form and the testicular form that are equally active. Multiple

additional alternatively spliced variants have been identified but their full length nature has

not been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821

Function: Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results

in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin,

a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from

the membrane by cleaving the mannose linkage in the GPI moiety

Gene Wiki entry for ACE (Angiotensin-converting_enzyme)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ACE gene

Entrez Gene cytogenetic band: 17q23.3 Ensembl cytogenetic band: 17q23.3 HGNC cytogenetic band: 17q23

ACE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P058908: (about GC identifiers)

Start:	58,908,166 bp from pter
End:	58,952,937 bp from pter
Size:	44,772 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000017.9 NT_010783.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821 (See protein sequence)

Recommended Name: Angiotensin-converting enzyme precursor

Size: 1306 amino acids; 149715 Da

Cofactor: Binds 2 zinc ions per subunit. The Testis-specific isoform only binds 1 zinc ion per

subunit

Cofactor: Binds 3 chloride ions per subunit

Subcellular location: Angiotensin-converting enzyme, soluble form: Secreted

Subcellular location: Cell membrane; Single-pass type I membrane protein

Miscellaneous: Inhibitors of ACE are commonly used to treat hypertension and some types of renal

and cardiac dysfunction

Miscellaneous: The glycosidase activity probably uses different active site residues than the

metalloprotease activity

PDB structures from and Proteopedia :

1O86 (3D)

1O8A (3D)

1UZE (3D)

1UZF (3D)

2C6F (3D)

2C6N (3D)

2IUL (3D)

2IUX (3D)

2OC2 (3D)

3BKK (3D)

3BKL (3D)

Secondary accessions: B0LPF0 P22966 Q53YX9 Q59GY8 Q7M4L4

Alternative splicing: 3 isoforms: P12821-1 P12821-2 P12821-3, P22966-1

Post-translational modifications:

Phosphorylated by CK2 on Ser-1299; which allows membrane retention¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000780.1 NP_690043.1

ENSEMBL proteins:

ENSP00000290866 ENSP00000290863

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for ACE (ACE/CD143)
	Enzo Life Sciences proteins for ACE
	Recombinant Proteins from Abcam (Angiotensin Converting Enzyme 1)
	Human Recombinant Proteins from Abnova (ACE)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005615	extracellular space	IDA	1668266 4322742
GO:0005624	membrane fraction	IDA	1668266 2849100
GO:0005768	endosome	IDA	17077303
GO:0005886	plasma membrane	IEA	--

About this table

Antibodies for ACE:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ACE
	R&D Systems Antibodies for ACE (ACE/CD143)
	Antibodies from Abcam (Angiotensin Converting Enzyme 1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ACE)
	Novus Biologicals Antibodies for ACE

Assays for ACE:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for ACE (ACE/CD143) (see all)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P12821

ProtoNet protein and cluster: P12821

1 Blocks protein family: IPB001548 Peptidyl-dipeptidase A (M2) metalloprotease family signature

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821

Similarity: Belongs to the peptidase M2 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACE)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACE)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000789

Applied Biosystems Silencer® siRNAs for ACE

Sigma-Aldrich siRNA and siRNA Panels for ACE

Sigma-Aldrich shRNA for ACE

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000789
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000789
untagged cDNA clones in CMV expression vector (see all 4): NM_000789

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000789

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821

Function: Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results

in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin,

a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from

the membrane by cleaving the mannose linkage in the GPI moiety

Catalytic activity: Release of a C-terminal dipeptide, oligopeptide- -Xaa-Yaa, when Xaa is not Pro,

and Yaa is neither Asp nor Glu. Thus, conversion of angiotensin I to angiotensin II, with increase

in vasoconstrictor activity, but no action on angiotensin II

Enzyme regulation: Strongly activated by chloride. Specifically inhibited by lisinopril, captopril

and enalaprilat

Biophysicochemical properties: Kinetic parameters: KM=2.51 mM for Hip-His-Leu;

Induction: Up-regulated in failing heart

Enzyme Number (IUBMB): EC 3.4.15.1,EC

15 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Ace):

	adipose tissue	behavior/neurological	digestive/alimentary	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
life span-post-weaning/aging	liver/biliary system	renal/urinary system	reproductive system	tumorigenesis

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004180	carboxypeptidase activity	IEA	--
GO:0008144	drug binding	IDA	1320019
GO:0008233	peptidase activity	IEA	--
GO:0008237	metallopeptidase activity	ISS	--
GO:0008241	peptidyl-dipeptidase activity	ISS	11303049

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for ACE (Your Favorite Gene powered by Ingenuity)

Renin-Angiotensin Signaling

GeneDecks ACE for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for ACE

5/63 Interacting proteins for ACE (ENSP00000290866³) via UniProtKB, MINT, and/or STRING (see all 63 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AGT	ENSP00000355627³	STRING (score=.993)
REN	ENSP00000272190³	STRING (score=.993)
BDKRB2	ENSP00000307713³	STRING (score=.977)
AGTR1	ENSP00000273430³	STRING (score=.967)
SERPINE1	ENSP00000223095³	STRING (score=.966)

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5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001822	kidney development	IMP	16116425
GO:0002005	angiotensin catabolic process in blood	IC	1668266
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IC	1668266
GO:0006508	proteolysis	IEA	--
GO:0008217	regulation of blood pressure	ISS	11303049

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for ACE

Sigma-Aldrich Small Molecules for ACE:

Inhibitor

Compounds for ACE available from Tocris Bioscience

Compound	Action	CAS number
Benazepril hydrochloride	Angiotensin-converting enzyme (ACE) inhibitor	[86541-74-4]
Moexipril hydrochloride	Angiotensin-converting enzyme (ACE) inhibitor	[82586-52-5]

About this table

10/26 Novoseek chemical compound relationships for ACE gene (see all 26 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	73.78	1470	8562468 (8), 9205940 (6), 12775305 (6), 12610747 (6) (see all 99)
trandolaprilat	73.37	25	8480624 (4), 12736518 (3), 7527100 (2), 8443030 (2) (see all 11)
fapgg	73.28	19	1651180 (3), 11840834 (2), 9246391 (2), 15163524 (2) (see all 9)
aliskiren	71.52	21	18090068 (2), 18174970 (1), 17318797 (1), 17890152 (1) (see all 16)
imidaprilat	69.93	14	18399693 (1), 15601445 (1), 9159562 (1), 9591932 (1) (see all 10)
hippuryl-histidyl-leucine	69.72	14	1651180 (2), 2175927 (1), 10826406 (1), 17386920 (1) (see all 6)
moexiprilat	67.96	7	11837383 (3), 9617599 (1), 15286086 (1), 7608310 (1) (see all 5)
sampatrilat	65.28	12	10371365 (4), 9797801 (3), 9535199 (2), 9535200 (1)
zofenoprilat	65.02	9	1475237 (2), 10635443 (2), 16452552 (2), 9284425 (1) (see all 6)
spiraprilat	64.21	5	18399693 (1), 1325513 (1), 7601014 (1)

About this table

10/12 PharmGKB drug compound relationships for ACE gene (see all 12 )

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Beta adrenergic antagonists	CO GN	11273991
ace inhibitors	CO PD FA GN	98354687 20087150 12235256 9293967
atenolol	PD	8538349
captopril	PD FA	8986921 9069453 9293967
enalapril	PD	9407415 7593601 9661139 8986921 8538349
enalaprilat	PD GN	20342856
fluvastatin	CO PD GN	10636265 20100220
fosinopril	CO PD FA GN	10999650
gemfibrozil	PD GN	12123487
imidapril	PD	20004378 97413707

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACE)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ACE)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000789

Sigma-Aldrich siRNA and siRNA Panels for ACE

Sigma-Aldrich shRNA for ACE

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000789 NM_152830

REFSEQ mRNAs for ACE gene (2 alternative transcripts):

NM_000789.2 NM_152830.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000789 NM_152830

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000789
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000789
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_000789

Additional cDNA sequence:

AB208971.1 AK296566.1 AK300516.1 AK301988.1 AK302019.1 AK309514.1 J04144.1 M26657.1

M29981.1 S81361.1 X16295.1

13 DOTS entries:

DT.450544 DT.95220519 DT.100790782 DT.100790780 DT.75103816 DT.86854701 DT.100790785 DT.95220571

DT.100770455 DT.100776952 DT.40116291 DT.95220617 DT.95322212

24/223 AceView cDNA sequences (see all 223 ):

H27155 AW772446 BE382576 NM_152831 NM_000789 BI831717 BI826471 AI096704

BE464066 NM_152830 BM712523 BQ020350 BG152896 BF475825 BF196049 BE783248

AW772527 BM984583 BQ881320 J04144 BX380082 CD364763 AW003214 AI371868

highest scoring ESTs for ACE:

BC036375 M26657 AA033816 AA417226 AA417372 AA548376 AA554059 AA649967 AA854635 AA906484

Unigene Cluster for ACE:

Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

Hs.654434 [show with all ESTs]

Unigene Representative Sequence: NM_000789

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for ACE (see all 14 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15a	·	15b	·	15c	·	15d	^	16a	·	16b	^	17	^	18a	·	18b	^
SP1:			-				-																												-		-		-		-				-		-				-
SP2:																																													-		-				-
SP3:																																													-		-				-
SP4:																																									-				-		-				-
SP5:																																													-		-

ExUns:	19a	·	19b	·	19c	^	20a	·	20b	^	21	^	22	^	23a	·	23b	^	24	^	25a	·	25b	^	26	^	27	^	28	^	29a	·	29b
SP1:	-						-														-
SP2:	-						-														-
SP3:	-																				-
SP4:	-						-
SP5:	-						-

About this scheme

ECgene alternative splicing isoforms for ACE

2 Ensembl transcripts including schematic representations:

ENST00000290866 ENST00000290863

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ACE expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ACE

¹ / ² / ³

3 probe-sets matching ACE gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37013_at²^{, 3}	U95-A	4	1.00	0.95	1.00	1.00	M26657	0.80	1.00	0.91	1
209749_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI623989	0.40	1.00	0.76	1
209749_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GGGAGAAGCT

SOURCE GeneReport for Unigene cluster: Hs.654434
Expression variation in blood from EXPOLDB for ACE
UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
Tissue specificity: Ubiquitously expressed, with highest levels in lung, kidney, heart,
gastrointestinal system and prostate. The testis-specific isoforn is expressed in spermatocytes,
adult testis

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ACE gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ACE¹	--	angiotensin I converting enzyme (peptidyl-dipeptidase more	87.05(n) 86.02(a)	610668 XM_548035.2 XP_548035.2
chimpanzee (Pan troglodytes)	ACE¹	--	angiotensin I converting enzyme (peptidyl-dipeptidase more	99.08(n) 99.31(a)	449567 NM_001008995.1 NP_001008995.1
rat (Rattus norvegicus)	Ace¹	--	angiotensin I converting enzyme (peptidyl-dipeptidase more	84.23(n) 84.69(a)	24310 NM_012544.1 NP_036676.1
mouse (Mus musculus)	Ace^{1, 5}	11 (65.00 cM)⁵	angiotensin I converting enzyme (peptidyl-dipeptidase more^{1, 5}	84.23(n)¹ 83.46(a)¹	11421¹ NM_207624.3¹ NP_997507.1¹ AK154632⁵ AK161020⁵ (see all 21)
chicken (Gallus gallus)	ACE¹	--	angiotensin I converting enzyme (peptidyl-dipeptidase more	70.99(n) 68.28(a)	419953 XM_418074.2 XP_418074.2

About this table Species with no ortholog for ACE

ENSEMBL Gene Tree for ACE

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ACE gene

ACE2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/288 NCBI SNPs in ACE are shown (see all 288 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 140)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs4980^1,2	C,F,H	58928374(+)	`CCAGCG/AGCTCT`	2	Q/R	mis¹ ese³		6	MN EU EA WA	680
	rs12709426^1,2	C,F,H	58915488(+)	`CTTAGA/GTGCCC`	2	D/G	mis¹ ng5¹		9	EU EA WA NA	866
	rs4311^1,2	C,F,H	58914495(+)	`AAAAGC/TTAAAT`	2	--	ng5¹ int¹		14	EA NA NS EU WA	2932
--	rs4303^1,2	C,F,H	58911555(+)	`GCCGCG/TCACTG`	1	A/S	mis¹ ese³		9	MN EU EA WA	1020
--	rs12720746^1,2	C,F,H	58914636(+)	`AAATGT/CGACAC`	2	A/V	mis¹ ng5¹		5	NS EU EA WA	420
--	rs3730025^1,2	C,F,H	58911505(+)	`CCTCTA/GCCAAC`	1	Y/C	mis¹ ese³		5	NS EU EA WA	446
	rs4364^1,2	C,F,H	58928394(+)	`GCCACC/AGCAGC`	2	S/R	mis¹ ese³		5	MN EU EA WA	496
	rs4317^1,2	C,F,H	58916054(+)	`AGGCAT/CCCCAA`	2	P/S	mis¹ int¹ ese³		6	MN EU EA WA	676
	rs4318^1,2	C,F,H	58916105(+)	`CCAGCA/GGCCAG`	2	S/G	mis¹ int¹ ese³		10	MN EU EA WA	938
--	rs13306091^1,2	F,H	58920067(+)	`GTCTAT/CGTACG`	2	T/M	mis¹ ese³		8	EA EU WA NA	1020

About this table

HapMap Linkage Disequilibrium images for ACE (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 106180

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821

Genetic variations in ACE may be a cause of susceptibility to ischemic stroke

[MIM:601367]; also known as cerebrovascular accident or cerebral infarction. A stroke is an acute

neurologic event leading to death of neural tissue of the brain and resulting in loss of motor,

sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is

considered to be a highly complex disease consisting of a group of heterogeneous disorders with

multiple genetic and environmental risk factors

Defects in ACE are a cause of renal tubular dysgenesis (RTD) [MIM:267430]. RTD is an

autosomal recessive severe disorder of renal tubular development characterized by persistent fetal

anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios

(the Potter phenotype)

Genetic variations in ACE could influence susceptibility to diabetic nephropathy

[MIM:612624]; also called susceptibility to microvascular complications of diabetes type 3 (MVCD3)

or susceptibility to diabetic end-stage renal disease (ESRD). Diabetic nephropathy is a kidney

disease and resultant kidney function impairment due to the long standing effects of diabetes on

the microvasculature (glomerulus) of the kidney. Features include increased urine protein and

declining kidney function

10/97 Novoseek disease relationships for ACE gene (see all 97 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
heart failure	90.59	2018	11835905 (6), 14622625 (6), 16285075 (6), 11723314 (5) (see all 99)
diabetic nephropathies	86.86	521	12016801 (6), 10332539 (5), 9111155 (4), 11428725 (4) (see all 99)
essential hypertension	86.67	436	8686957 (4), 9626985 (4), 8076423 (3), 16866021 (3) (see all 99)
heart failure congestive	86.32	513	8682064 (4), 18458262 (4), 8863101 (3), 7527326 (3) (see all 99)
renal disease	85.49	917	17506717 (6), 11258145 (5), 12501871 (5), 12570791 (5) (see all 99)
proteinuria	83.26	449	17984482 (5), 9328608 (4), 9767545 (4), 11007831 (4) (see all 99)
microalbuminuria	83.24	225	15944842 (7), 15449965 (5), 16095545 (4), 10377929 (3) (see all 99)
myocardial infarction	82.72	840	10462466 (7), 7606755 (7), 9812182 (5), 8644984 (5) (see all 99)
ventricular dysfunction left	82.66	268	10499559 (4), 8994996 (3), 8095738 (3), 8682064 (3) (see all 99)
angioedema	82.54	410	15111379 (8), 17540310 (7), 10594491 (7), 9530537 (7) (see all 99)

About this table

10/17 PharmGKB disease relationships for ACE gene (see all 17 )

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Glomerulonephritis	PD	7593601
Angioneurotic Edema	CO FA	12235256
Arteriosclerosis	CO PD GN	10636265 20342856
Cardiovascular Diseases	PD FA	10483967
Coronary Arteriosclerosis	CO FA GN	10669647
Diabetes Mellitus, Insulin-Dependent	PD GN	98392843
Heart Failure, Congestive	CO GN	11273991
Hypertension	CO PD FA	9869506 9407415 8986921 12235256
Hypotension	PD FA	10483967
Myocardial Infarction	CO GN	11994975

About this table

Human Gene Mutation Database: ACE
Genetic Association Database: ACE
Human Genome Epidemiology Navigator: ACE (1359 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/5351 PubMed articles for ACE gene (see all 5351 ):

Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PubMed id 15534175)^{3, 4, 6} Casas J.P.... Sharma P. (2004)
Sequence variation in the human angiotensin converting enzyme. (PubMed id 10319862)^{2, 3, 4} Rieder M.J....Nickerson D.A. (1999)
The deletion genotype of the angiotensin I-converting enzyme is associated with an increased vascular reactivity in vivo and in vitro. (PubMed id 10483967)^{1, 6, 7} Henrion D....Levy B.I. (1999)
Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy. (PubMed id 8538349)^{1, 6, 7} van Essen G.G....de Jong P.E. (1996)
Molecular cloning of human testicular angiotensin-converting enzyme: the testis isozyme is identical to the C-terminal half of endothelial angiotensin-converting enzyme. (PubMed id 2554286)^{2, 3, 4} Ehlers M.R.W.... Riordan J.F. (1989)
Shedding of somatic angiotensin-converting enzyme (ACE) is inefficient compared with testis ACE despite cleavage at identical stalk sites. (PubMed id 10769174)^{1, 3, 4} Woodman Z.L.... Sturrock E.D. (2000)
CK2 phosphorylates the angiotensin-converting enzyme and regulates its retention in the endothelial cell plasma membrane. (PubMed id 12386153)^{1, 3, 4} Kohlstedt K.... Fleming I. (2002)
Neutral endopeptidase and angiotensin I converting enzyme insertion/deletion gene polymorphism in humans. (PubMed id 14730327)^{1, 3, 6} Jalil J.E....Lavandero S. (2004)
Hypertension after renal transplantation and polymorphism of genes involved in essential hypertension: ACE, AGT, AT1 R and ecNOS. (PubMed id 11926202)^{1, 3, 6} Basset e.l.-.E.A....Berthou F. (2002)
Lack of association between angiotensin I-converting enzyme gene deletion polymorphism and cerebrovascular disease in Taiwanese. (PubMed id 11155741)^{1, 3, 6} Lin J.J....Harn H.J. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 1636	HGNC: 2707	AceView: ACE	Ensembl:ENSG00000159640	euGenes: HUgn1636
ECgene: ACE	H-InvDB: ACE

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=ACE
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ACE

Licensable Technologies for ACE
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ACE:

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
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ACE Gene

protein-coding GIFtS: 71

Aliases &
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for ACE

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for ACE

Genomic Location
for ACE

Proteins
for ACE

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for ACE

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for ACE

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ACE Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor ACE

Summariesfor ACE

Genomic Locationfor ACE

Proteinsfor ACE

Protein Domains/Familiesfor ACE

Gene Functionfor ACE

Pathways & Interactionsfor ACE

Drugs & Compoundsfor ACE

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Disorders & Mutationsfor ACE

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Genome Databases showing ACE

Other Databases showing ACE

Specialized Databases showing ACE

Licensable Technologiesfor ACE

Servicesfor ACE

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ACE

Summaries
for ACE

Genomic Location
for ACE

Proteins
for ACE

Protein Domains/
Families
for ACE

Gene Function
for ACE

Pathways & Interactions
for ACE

Drugs & Compounds
for ACE

Transcripts
for ACE

Expression
for ACE

Orthologs
for ACE

Paralogs
for ACE

SNPs/Variants
for ACE

Disorders & Mutations
for ACE

Medical News
for ACE

Publications
for ACE

Licensable Technologies
for ACE

Services
for ACE