• Gene id: 12

Gene Summary

• Gene Symbol: SERPINA3   Gene   UCSC   Ensembl
• Aliases: AACT, ACT, GIG24, GIG25
• Gene name: serpin family A member 3
• Alternate names: alpha-1-antichymotrypsin, cell growth-inhibiting gene 24/25 protein, growth-inhibiting protein 24, growth-inhibiting protein 25, serine (or cysteine) proteinase inhibitor, clade A, member 3, serpin A3, serpin peptidase inhibitor, clade A (alpha-1 antiprot,
• Gene location: 14q32.13 (94612376: 94624052)     Exons: 5     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been
• OMIM: 107280

SNPs

rs606231461

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs371195126

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

rs199696526

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs11144790

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.76197556G>A
NC_000009.11   g.78812472G>A
NG_029445.1   g.311913G>A|SEQ=[G/A]|GENE=PCSK5

rs7969759

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs3129878

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32440958A>C
NC_000006.11   g.32408735A>C
NT_113891.3   g.3879082C>A
NT_113891.2   g.3879188C>A
NG_002392.2   g.5293C>A
NT_167248.2   g.3664005A>C
NT_167248.1   g.3669601A>C
NT_167245.2   g.3681261A>C
NT_167245.1   g.3686846A>C
NT_167249.2   g.3756099A>C

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs173665

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs2369679

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

rs7194

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32444703G>A
NC_000006.12   g.32444703G>C
NC_000006.11   g.32412480G>A
NC_000006.11   g.32412480G>C
NT_113891.3   g.3882792G>A
NT_113891.3   g.3882792G>C
NT_113891.2   g.3882898G>A
NT_113891.2   g.3882898G>C
NG_002392.2   g.9003G>A
NG_002392.2   g.9003G>

rs370681

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.342461C>T
NC_000016.9   g.392461C>T
NG_012267.1   g.15004G>A|SEQ=[C/T]|GENE=AXIN1

rs1805105

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.346264A>G
NC_000016.9   g.396264A>G
NG_012267.1   g.11201T>C
NM_003502.4   c.762T>C
NM_003502.3   c.762T>C
NM_181050.3   c.762T>C
NM_181050.2   c.762T>C
NR_134879.2   n.1198T>C
NR_134879.1   n.1151T>C
XM_011522682.2   c.909T>C
XM_011522683.2   c.909T>C
XM  

rs2302075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.5753815C>A
NC_000004.12   g.5753815C>G
NC_000004.12   g.5753815C>T
NC_000004.11   g.5755542C>A
NC_000004.11   g.5755542C>G
NC_000004.11   g.5755542C>T
NG_008843.1   g.47619C>A
NG_008843.1   g.47619C>G
NG_008843.1   g.47619C>T
NM_153717.3   c.1346C>A
NM_  

rs17268974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7318929T>A
NC_000023.11   g.7318929T>C
NC_000023.11   g.7318929T>G
NC_000023.10   g.7236970T>A
NC_000023.10   g.7236970T>C
NC_000023.10   g.7236970T>G
NG_021472.2   g.176678T>A
NG_021472.2   g.176678T>C
NG_021472.2   g.176678T>G|SEQ=[T/A/C/G]|GENE=STS

rs5934740

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7239611G>A
NC_000023.11   g.7239611G>C
NC_000023.10   g.7157652G>A
NC_000023.10   g.7157652G>C
NG_021472.2   g.97360G>A
NG_021472.2   g.97360G>C|SEQ=[G/A/C]|GENE=STS

rs5934842

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7264242C>A
NC_000023.11   g.7264242C>G
NC_000023.10   g.7182283C>A
NC_000023.10   g.7182283C>G
NG_021472.2   g.121991C>A
NG_021472.2   g.121991C>G|SEQ=[C/A/G]|GENE=STS

rs5934913

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7294236G>A
NC_000023.10   g.7212277G>A
NG_021472.2   g.151985G>A|SEQ=[G/A]|GENE=STS

rs6639811

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7297762A>G
NC_000023.10   g.7215803A>G
NG_021472.2   g.155511A>G|SEQ=[A/G]|GENE=STS

rs3923341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7300859C>T
NC_000023.10   g.7218900C>T
NG_021472.2   g.158608C>T|SEQ=[C/T]|GENE=STS

rs5934937

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7323041C>A
NC_000023.11   g.7323041C>G
NC_000023.11   g.7323041C>T
NC_000023.10   g.7241082C>A
NC_000023.10   g.7241082C>G
NC_000023.10   g.7241082C>T
NG_021472.2   g.180790C>A
NG_021472.2   g.180790C>G
NG_021472.2   g.180790C>T|SEQ=[C/A/G/T]|GENE=STS

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs1555633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

rs1800629

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575254G>A
NC_000006.11   g.31543031G>A
NG_007462.1   g.4682G>A
NG_012010.1   g.8156G>A
NT_113891.3   g.3052541A>G
NT_113891.2   g.3052647A>G
NT_167246.2   g.2880295G>A
NT_167246.1   g.2885915G>A
NT_167249.2   g.2874534G>A
NT_167249.1   g.2873832G>A
NT  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs1800750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575186G>A
NC_000006.11   g.31542963G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NT_113891.3   g.3052473G>A
NT_113891.2   g.3052579G>A
NT_167246.2   g.2880227G>A
NT_167246.1   g.2885847G>A
NT_167249.2   g.2874466G>A
NT_167249.1   g.2873764G>A
NT  

rs361525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575324G>A
NC_000006.11   g.31543101G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NT_113891.3   g.3052611G>A
NT_113891.2   g.3052717G>A
NT_167246.2   g.2880365G>A
NT_167246.1   g.2885985G>A
NT_167249.2   g.2874604G>A
NT_167249.1   g.2873902G>A
NT  

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

rs3788862

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.43658116A>C
NC_000023.11   g.43658116A>G
NC_000023.10   g.43517364A>C
NC_000023.10   g.43517364A>G
NG_008957.2   g.6956A>C
NG_008957.2   g.6956A>G|SEQ=[A/C/G]|GENE=MAOA

rs5764698

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: P01011  
  • Name: Alpha 1 antichymotrypsin (ACT) (Cell growth inhibiting gene 24/25 protein) (Serpin A3) [Cleaved into: Alpha 1 antichymotrypsin His Pro less]
  • Length: 423  
  • Mass: 47651
  • Tissue specificity: Plasma. Synthesized in the liver. Like the related alpha-1-antitrypsin, its concentration increases in the acute phase of inflammation or infection. Found in the amyloid plaques from the hippocampus of Alzheimer disease brains. {ECO
• Sequence:

  MERMLPLLALGLLAAGFCPAVLCHPNSPLDEENLTQENQDRGTHVDLGLASANVDFAFSLYKQLVLKAPDKNVIF
  SPLSISTALAFLSLGAHNTTLTEILKGLKFNLTETSEAEIHQSFQHLLRTLNQSSDELQLSMGNAMFVKEQLSLL
  DRFTEDAKRLYGSEAFATDFQDSAAAKKLINDYVKNGTRGKITDLIKDLDSQTMMVLVNYIFFKAKWEMPFDPQD
  THQSRFYLSKKKWVMVPMMSLHHLTIPYFRDEELSCTVVELKYTGNASALFILPDQDKMEEVEAMLLPETLKRWR
  DSLEFREIGELYLPKFSISRDYNLNDILLQLGIEEAFTSKADLSGITGARNLAVSQVVHKAVLDVFEEGTEASAA
  TAVKITLLSALVETRTIVRFNRPFLMIIVPTDTQNIFFMSKVTNPKQA

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  IPR042178   IPR042185  
  • Prosite: PS00284
  • PDB: 1AS4 1QMN 2ACH 3CAA 3DLW 4CAA 6HGE
  • PDBsum: 1AS4 1QMN 2ACH 3CAA 3DLW 4CAA 6HGE
  • STRING: ENSP00000450540
• Other Databases: GeneCards:  SERPINA3  Malacards:  SERPINA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002576	platelet degranulation	TAS	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	NAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0019216	regulation of lipid metabolic process	NAS	biological process
GO:0030277	maintenance of gastrointestinal epithelium	NAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	NAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0019216	regulation of lipid metabolic process	NAS	biological process
GO:0030277	maintenance of gastrointestinal epithelium	NAS	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	NAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006954	inflammatory response	NAS	biological process
GO:0019216	regulation of lipid metabolic process	NAS	biological process
GO:0030277	maintenance of gastrointestinal epithelium	NAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0030277	maintenance of gastrointestinal epithelium	NAS	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019216	regulation of lipid metabolic process	NAS	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0072562	blood microparticle	HDA	cellular component
GO:0006954	inflammatory response	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cancer (lung)	GAD: 19390575
Cancer (prostate)	GAD: 18383875
Aneurysm	GAD: 19008959
Brain aneurysm	GAD: 16968986
Cardiovascular disease	GAD: 18408372
Cerebral amyloid angiopathy (CAA)	GAD: 11132933
Cerebral hemorrhage	GAD: 12126519
Cerebrovascular disease	OMIM: 107280
Hypertension	GAD: 19341158
Vasculitis	GAD: 12685871
Macular degeneration	GAD: 18842294
Hemorrhage	GAD: 12126519
Asthma	GAD: 11295654
Osteoarthritis	GAD: 1974162
Multiple system atrophy	GAD: 15907346
Stroke	GAD: 11692021
Subarachnoid hemorrhage	GAD: 15718509
Sporadic inclusion body myositis	GAD: 15159602
Alzheimer's disease	GAD: 17854420
Parkinson disease	GAD: 11992569
Psychological disorders	GAD: 12736093
Dementia	GAD: 12736093
Kidney diseases	GAD: 19578796
Male factor infertility	MIK: 16687568
Spermatogenesis defects	MIK: 16687568
Pulmonary emphysema	GAD: 21067581
Chronic obstructive pulmonary disease (COPD)	GAD: 15612581
Alpha 1-antitrypsin deficiency	GAD: 11161981
Alpha-1-antichymotrypsin deficiency	OMIM: 107280
Adult respiratory distress syndrome	PMID:2432615
Cystic fibrosis	PMID:11120905
Severe acute respiratory syndrome	PMID:16649161
Chronic obstructive pulmonary disease	PMID:17261175
Chronic obstructive pulmonary disease	PMID:10849024
lung adenocarcinoma	PMID:8620411
Male factor infertility	MIK: 16687568
Idiopathic-impaired spermatogenesis	MIK: 16687568
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16687568	Male factor infertility, idiopathic-impaired spermatogenesis	(103G/A:R35H, 1264C/T:N96N,6987T/C: C178C,7063A/G:R204G,7077A/G:P208P,7084A/G: M211V,7222A/G,7259A/G, 7441T/C, 12032C/G:S243R,12065A/G:L254L,12234T/G)		165 (96 azoo- or oligospermic patients, 69 fertile controls)	Male infertility	ACT
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R