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A repository for genes associated with endometriosis

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Gene id 1636
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ACE   Gene   UCSC   Ensembl
Aliases ACE1, CD143, DCP, DCP1
Gene name angiotensin I converting enzyme
Alternate names angiotensin-converting enzyme, CD143 antigen, angiotensin I converting enzyme (peptidyl-dipeptidase A) 1, angiotensin converting enzyme, somatic isoform, carboxycathepsin, dipeptidyl carboxypeptidase 1, dipeptidyl carboxypeptidase I, kininase II, peptidase P,
Gene location 17q23.3 (63477060: 63498379)     Exons: 26     NC_000017.11
Gene summary(Entrez) 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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
OMIM 106180

SNPs

rs1799752

Strand:    Allele origin:   Allele change: -/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/G   Mutation type: in-del

CM000679.2   g.63488529_63488530insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NC_000017.10   g.61565890_61565891insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NC_000017.10   g.61565890_61565891insG
NC_000017.11   g.63488529_63488530insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NG_011648.1   g.16457_16458insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NG_011648.1   g.16457_16458insG
NM_000789.3   c.2306-119_2306-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NM_000789.3   c.2306-119_2306-118insG
NM_001178057.1   c.584-119_584-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NM_001178057.1   c.584-119_584-118insG
NM_152830.2   c.584-119_584-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
NM_152830.2   c.584-119_584-118insG
Clinical Significance: drug-response

rs4291

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000679.2   g.63476833T>A
CM000679.2   g.63476833T>C
NC_000017.10   g.61554194T>A
NC_000017.11   g.63476833T>A
NC_000017.11   g.63476833T>C
NG_011648.1   g.4761T>A
NG_011648.1   g.4761T>C
NM_000789.3   c.-262T>A
NM_000789.3   c.-262T>C
rs4343

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000679.2   g.63488670G>A
NC_000017.10   g.61566031G>A
NC_000017.11   g.63488670G>A
NG_011648.1   g.16598G>A
NM_000789.3   c.2328G>A
NM_001178057.1   c.606G>A
NM_152830.2   c.606G>A
NP_000780.1   p.Thr776=
NP_001171528.1   p.Thr202=
NP_690043.1   p.Thr202=
XP_005257167.1   p.Thr593=
XP_006721800.2   p.Thr222=
Clinical Significance: Benign

Protein Summary

Protein general information P12821  

Name: Angiotensin converting enzyme (ACE) (EC 3.2.1. ) (EC 3.4.15.1) (Dipeptidyl carboxypeptidase I) (Kininase II) (CD antigen CD143) [Cleaved into: Angiotensin converting enzyme, soluble form]

Length: 1306  Mass: 149,715

Tissue specificity: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. {ECO

Sequence MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNI
TAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRI
YSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGA
YWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPF
PDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIK
QCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESD
INYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVT
PYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLL
KYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGIDLVTDEAEASKFVEEYDRTSQVVWNEYAEANWNYN
TNITTETSKILLQKNMQIANHTLKYGTQARKFDVNQLQNTTIKRIIKKVQDLERAALPAQELEEYNKILLDMETT
YSVATVCHPNGSCLQLEPDLTNVMATSRKYEDLLWAWEGWRDKAGRAILQFYPKYVELINQAARLNGYVDAGDSW
RSMYETPSLEQDLERLFQELQPLYLNLHAYVRRALHRHYGAQHINLEGPIPAHLLGNMWAQTWSNIYDLVVPFPS
APSMDTTEAMLKQGWTPRRMFKEADDFFTSLGLLPVPPEFWNKSMLEKPTDGREVVCHASAWDFYNGKDFRIKQC
TTVNLEDLVVAHHEMGHIQYFMQYKDLPVALREGANPGFHEAIGDVLALSVSTPKHLHSLNLLSSEGGSDEHDIN
FLMKMALDKIAFIPFSYLVDQWRWRVFDGSITKENYNQEWWSLRLKYQGLCPPVPRTQGDFDPGAKFHIPSSVPY
IRYFVSFIIQFQFHEALCQAAGHTGPLHKCDIYQSKEAGQRLATAMKLGFSRPWPEAMQLITGQPNMSASAMLSY
FKPLLDWLRTENELHGEKLGWPQYNWTPNSARSEGPLPDSGRVSFLGLDLDAQQARVGQWLLLFLGIALLVATLG
LSQRLFSIRHRSLHRHSHGPQFGSEVELRHS
Structural information
Interpro:  IPR001548
Prosite:   PS00142

Pfam:  
PF01401
CDD:   cd06461

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
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
MINT:   127316
STRING:   ENSP00000290866;
Other Databases GeneCards:  ACE;  Malacards:  ACE

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001822 kidney development
IMP biological_process
GO:0001974 blood vessel remodeling
IC biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002005 angiotensin catabolic pro
cess in blood
IC biological_process
GO:0002019 regulation of renal outpu
t by angiotensin
IC biological_process
GO:0002446 neutrophil mediated immun
ity
ISS biological_process
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
TAS biological_process
GO:0003081 regulation of systemic ar
terial blood pressure by
renin-angiotensin
IC biological_process
GO:0003081 regulation of systemic ar
terial blood pressure by
renin-angiotensin
IMP biological_process
GO:0003779 actin binding
IDA molecular_function
GO:0004175 endopeptidase activity
IDA molecular_function
GO:0004175 endopeptidase activity
IDA molecular_function
GO:0004180 carboxypeptidase activity
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005768 endosome
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007283 spermatogenesis
ISS biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008217 regulation of blood press
ure
ISS biological_process
GO:0008217 regulation of blood press
ure
ISS biological_process
GO:0008237 metallopeptidase activity
ISS molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008238 exopeptidase activity
IDA molecular_function
GO:0008240 tripeptidyl-peptidase act
ivity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
ISS molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008270 zinc ion binding
IDA molecular_function
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0014910 regulation of smooth musc
le cell migration
ISS biological_process
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019229 regulation of vasoconstri
ction
IC biological_process
GO:0031404 chloride ion binding
IDA molecular_function
GO:0031434 mitogen-activated protein
kinase kinase binding
IPI molecular_function
GO:0031711 bradykinin receptor bindi
ng
IPI molecular_function
GO:0032943 mononuclear cell prolifer
ation
IC biological_process
GO:0042312 regulation of vasodilatio
n
IC biological_process
GO:0042447 hormone catabolic process
ISS biological_process
GO:0042447 hormone catabolic process
IDA biological_process
GO:0043171 peptide catabolic process
IDA biological_process
GO:0043171 peptide catabolic process
IDA biological_process
GO:0050435 beta-amyloid metabolic pr
ocess
IDA biological_process
GO:0050435 beta-amyloid metabolic pr
ocess
IDA biological_process
GO:0050482 arachidonic acid secretio
n
IDA biological_process
GO:0051019 mitogen-activated protein
kinase binding
IPI molecular_function
GO:0060047 heart contraction
ISS biological_process
GO:0060177 regulation of angiotensin
metabolic process
IDA biological_process
GO:0060218 hematopoietic stem cell d
ifferentiation
IC biological_process
GO:0061098 positive regulation of pr
otein tyrosine kinase act
ivity
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0071838 cell proliferation in bon
e marrow
ISS biological_process
GO:1900086 positive regulation of pe
ptidyl-tyrosine autophosp
horylation
ISS biological_process
GO:1902033 regulation of hematopoiet
ic stem cell proliferatio
n
ISS biological_process
GO:1902033 regulation of hematopoiet
ic stem cell proliferatio
n
IC biological_process
GO:1903597 negative regulation of ga
p junction assembly
ISS biological_process
GO:2000170 positive regulation of pe
ptidyl-cysteine S-nitrosy
lation
ISS biological_process
GO:0001822 kidney development
IMP biological_process
GO:0001974 blood vessel remodeling
IC biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002005 angiotensin catabolic pro
cess in blood
IC biological_process
GO:0002019 regulation of renal outpu
t by angiotensin
IC biological_process
GO:0002446 neutrophil mediated immun
ity
ISS biological_process
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
TAS biological_process
GO:0003081 regulation of systemic ar
terial blood pressure by
renin-angiotensin
IC biological_process
GO:0003081 regulation of systemic ar
terial blood pressure by
renin-angiotensin
IMP biological_process
GO:0003779 actin binding
IDA molecular_function
GO:0004175 endopeptidase activity
IDA molecular_function
GO:0004175 endopeptidase activity
IDA molecular_function
GO:0004180 carboxypeptidase activity
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005768 endosome
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0006508 proteolysis
IEA biological_process
GO:0007283 spermatogenesis
ISS biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008217 regulation of blood press
ure
ISS biological_process
GO:0008217 regulation of blood press
ure
ISS biological_process
GO:0008233 peptidase activity
IEA molecular_function
GO:0008237 metallopeptidase activity
IEA molecular_function
GO:0008237 metallopeptidase activity
ISS molecular_function
GO:0008237 metallopeptidase activity
IEA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008238 exopeptidase activity
IDA molecular_function
GO:0008240 tripeptidyl-peptidase act
ivity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IEA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
ISS molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008270 zinc ion binding
IDA molecular_function
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0014910 regulation of smooth musc
le cell migration
ISS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0019229 regulation of vasoconstri
ction
IC biological_process
GO:0031404 chloride ion binding
IDA molecular_function
GO:0031434 mitogen-activated protein
kinase kinase binding
IPI molecular_function
GO:0031711 bradykinin receptor bindi
ng
IPI molecular_function
GO:0032943 mononuclear cell prolifer
ation
IC biological_process
GO:0042312 regulation of vasodilatio
n
IC biological_process
GO:0042447 hormone catabolic process
ISS biological_process
GO:0042447 hormone catabolic process
IDA biological_process
GO:0043171 peptide catabolic process
IDA biological_process
GO:0043171 peptide catabolic process
IDA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0050435 beta-amyloid metabolic pr
ocess
IDA biological_process
GO:0050435 beta-amyloid metabolic pr
ocess
IDA biological_process
GO:0050482 arachidonic acid secretio
n
IDA biological_process
GO:0051019 mitogen-activated protein
kinase binding
IPI molecular_function
GO:0060047 heart contraction
ISS biological_process
GO:0060177 regulation of angiotensin
metabolic process
IDA biological_process
GO:0060218 hematopoietic stem cell d
ifferentiation
IC biological_process
GO:0061098 positive regulation of pr
otein tyrosine kinase act
ivity
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0071838 cell proliferation in bon
e marrow
ISS biological_process
GO:1900086 positive regulation of pe
ptidyl-tyrosine autophosp
horylation
ISS biological_process
GO:1902033 regulation of hematopoiet
ic stem cell proliferatio
n
ISS biological_process
GO:1902033 regulation of hematopoiet
ic stem cell proliferatio
n
IC biological_process
GO:1903597 negative regulation of ga
p junction assembly
ISS biological_process
GO:2000170 positive regulation of pe
ptidyl-cysteine S-nitrosy
lation
ISS biological_process
GO:0001822 kidney development
IMP biological_process
GO:0001974 blood vessel remodeling
IC biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002003 angiotensin maturation
TAS biological_process
GO:0002005 angiotensin catabolic pro
cess in blood
IC biological_process
GO:0002019 regulation of renal outpu
t by angiotensin
IC biological_process
GO:0002446 neutrophil mediated immun
ity
ISS biological_process
GO:0002474 antigen processing and pr
esentation of peptide ant
igen via MHC class I
TAS biological_process
GO:0003081 regulation of systemic ar
terial blood pressure by
renin-angiotensin
IC biological_process
GO:0003081 regulation of systemic ar
terial blood pressure by
renin-angiotensin
IMP biological_process
GO:0003779 actin binding
IDA molecular_function
GO:0004175 endopeptidase activity
IDA molecular_function
GO:0004175 endopeptidase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005768 endosome
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0007283 spermatogenesis
ISS biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008217 regulation of blood press
ure
ISS biological_process
GO:0008217 regulation of blood press
ure
ISS biological_process
GO:0008237 metallopeptidase activity
ISS molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008237 metallopeptidase activity
IDA molecular_function
GO:0008238 exopeptidase activity
IDA molecular_function
GO:0008240 tripeptidyl-peptidase act
ivity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
ISS molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008241 peptidyl-dipeptidase acti
vity
IDA molecular_function
GO:0008270 zinc ion binding
IDA molecular_function
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0014910 regulation of smooth musc
le cell migration
ISS biological_process
GO:0019229 regulation of vasoconstri
ction
IC biological_process
GO:0031404 chloride ion binding
IDA molecular_function
GO:0031434 mitogen-activated protein
kinase kinase binding
IPI molecular_function
GO:0031711 bradykinin receptor bindi
ng
IPI molecular_function
GO:0032943 mononuclear cell prolifer
ation
IC biological_process
GO:0042312 regulation of vasodilatio
n
IC biological_process
GO:0042447 hormone catabolic process
ISS biological_process
GO:0042447 hormone catabolic process
IDA biological_process
GO:0043171 peptide catabolic process
IDA biological_process
GO:0043171 peptide catabolic process
IDA biological_process
GO:0050435 beta-amyloid metabolic pr
ocess
IDA biological_process
GO:0050435 beta-amyloid metabolic pr
ocess
IDA biological_process
GO:0050482 arachidonic acid secretio
n
IDA biological_process
GO:0051019 mitogen-activated protein
kinase binding
IPI molecular_function
GO:0060047 heart contraction
ISS biological_process
GO:0060177 regulation of angiotensin
metabolic process
IDA biological_process
GO:0060218 hematopoietic stem cell d
ifferentiation
IC biological_process
GO:0061098 positive regulation of pr
otein tyrosine kinase act
ivity
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0070573 metallodipeptidase activi
ty
EXP molecular_function
GO:0071838 cell proliferation in bon
e marrow
ISS biological_process
GO:1900086 positive regulation of pe
ptidyl-tyrosine autophosp
horylation
ISS biological_process
GO:1902033 regulation of hematopoiet
ic stem cell proliferatio
n
ISS biological_process
GO:1902033 regulation of hematopoiet
ic stem cell proliferatio
n
IC biological_process
GO:1903597 negative regulation of ga
p junction assembly
ISS biological_process
GO:2000170 positive regulation of pe
ptidyl-cysteine S-nitrosy
lation
ISS biological_process

KEGG pathways

hsa05142  Chagas disease
hsa05410  Hypertrophic cardiomyopathy
hsa04924  Renin secretion
hsa04614  Renin-angiotensin system

Diseases

Associated diseases References
Albuminuria PMID: 11200871
Allergic rhinitis PMID: 15112973
Alzheimer's disease PMID: 14759632
Aneurysm PMID: 12116890
Asthenoteratozoospermia PMID: 22425118
Asthenozoospermia PMID: 22425118
Asthma PMID: 15115168
Atherosclerosis PMID: 12116890
Atopy PMID: 11030378
Azoospermia PMID: 11732226
Behcet's disease PMID: 14672905
Bipolar disorder PMID: 12366879
Cancer PMID: 15818445
Cardiovascular disease PMID: 12116890
Congenital uropathies PMID: 14713838
Coronory artery disease PMID: 12116890
Cystic fibrosis PMID: 14670805
Dementia PMID: 16603315
Depression PMID: 17499413
Diabetes PMID: 15300633
Diabetic nephropathy PMID: 10923445
Disorders of spermatogenesis PMID: 11732226
Dyslipidemia PMID: 16496609
Endometriosis PMID: 24571615
Erectile dysfunction PMID: 12825146
Gaucher disease PMID: 12359135
Glomerulonephritis PMID: 11865575
Hypertension PMID: 12116890
Kidney disease PMID: 12579398
Leiomyoma PMID: 17186537
Lung disease PMID: 18702808
Macular degeneration PMID: 16384981
Migraine disorders PMID: 18366776
Mood disorders PMID: 11145009
Myasthenia gravis PMID: 14981744
Myocardial infarction PMID: 12116890
Nephropathy PMID: 11776100
Obesity PMID: 15387996
Obstructive sleep apnea syndrome PMID: 11360521
Oligoasthenospermia PMID: 11732226
Oligoasthenoteratozoospermia PMID: 22425118
Oligozoospermia PMID: 6321247
Oteosclerosis PMID: 18491423
Parkinson's disease PMID: 15279067
Periodontitis PMID: 11210078
Polycystic ovary syndrome (PCOS) PMID: 23232975
Polydipsia PMID: 15978554
Preeclampsia PMID: 12575194
Primary ovarian insufficiency (POI) PMID: 23615648
Recurrent miscarriage PMID: 20450391
Renal tubular dysgenesis KEGG: H00575
Respiratory distress syndrome PMID: 18787808
Restenosis PMID: 12116890
Retinopathy PMID: 12090088
Sarcoidosis PMID: 18496980
Schizophrenia PMID: 9588764
Sertoli cell-only syndrome (SCOS) PMID: 6321247
Sickle cell anemia PMID: 12116890
Stroke PMID: 12116890
Systemic lupus erythematosus PMID: 14705222
Systemic sclerosis PMID: 12015245
Leiomyomas INFBASE17186537
Endometriosis INFBASE15531592
Varicocele PMID: 16728350

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21568223 Endometrio
sis
ACE I/D polymorphism Polish
243 (121 women
with endometrio
sis and in the
control group o
f 122 women)

Show abstract
24571615 Endometrio
sis
A2350G polymorphism, I/D ACE , A1166C AT1 Polish
368 (241 endome
triosis treated
due to inferti
lity, 127 cont
rol group (with
out endometrios
is))
ACE
AT1
Show abstract
15531592 Endometrio
sis
ACE A2350G, A-240T
309 (150 endome
triosis cases,
159 in the non-
endometriosis c
ases)
ACE
Show abstract
17186537 Endometrio
sis
ACE I/D gene polymorphisms
373 (125 endome
triosis, 120 le
iomyoma, 128 no
rmal controls)
ACE
Show abstract