Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5265
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol SERPINA1   Gene   UCSC   Ensembl
Aliases A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT, nNIF
Gene name serpin family A member 1
Alternate names alpha-1-antitrypsin, alpha-1 antitrypsin, alpha-1 protease inhibitor, alpha-1-antiproteinase, alpha-1-antitrypsin null, alpha-1-antitrypsin short transcript variant 1C4, alpha-1-antitrypsin short transcript variant 1C5, protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin, serine (or cysteine) proteinase inhibitor, clade A, member 1, serpin A1, serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1, serpin peptidase inhibitor clade A member 1, serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,
Gene location 14q32.13 (94390691: 94376746)     Exons: 7     NC_000014.9
Gene summary(Entrez) The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM 107400

Protein Summary
Protein general information P01009  

Name: Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)]

Length: 418  Mass: 46,737

Tissue specificity: Ubiquitous. Expressed in leukocytes and plasma. {ECO

Sequence MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIF
FSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKL
VDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVK
DTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFL
ENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAM
FLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK
Structural information
Interpro:  IPR023795 IPR023796 IPR000215 IPR036186
Prosite:   PS00284

Pfam:  		 PF00079

PDB:  		 1ATU 1D5S 1EZX 1HP7 1IZ2 1KCT 1OO8 1OPH 1PSI 1QLP 1QMB 2D26 2QUG 3CWL 3CWM 3DRM 3DRU 3NDD 3NDF 3NE4 3T1P 4PYW 5IO1 7API 8API 9API
PDBsum:   1ATU 1D5S 1EZX 1HP7 1IZ2 1KCT 1OO8 1OPH 1PSI 1QLP 1QMB 2D26 2QUG 3CWL 3CWM 3DRM 3DRU 3NDD 3NDF 3NE4 3T1P 4PYW 5IO1 7API 8API 9API

DIP:  		 35493
MINT:  
STRING:   ENSP00000348068;
Other Databases GeneCards:  SERPINA1;  Malacards:  SERPINA1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
 IEA cellular_component
GO:0001948 glycoprotein binding
 IPI molecular_function
GO:0002020 protease binding
 IPI molecular_function
GO:0002576 platelet degranulation
 TAS biological_process
GO:0004867 serine-type endopeptidase
inhibitor activity
 NAS molecular_function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IDA 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: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:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 IEA cellular_component
GO:0005615 extracellular space
 IMP 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:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0006888 ER to Golgi vesicle-media
ted transport
 TAS biological_process
GO:0006953 acute-phase response
 IEA biological_process
GO:0007596 blood coagulation
 IEA biological_process
GO:0010951 negative regulation of en
dopeptidase activity
 IEA biological_process
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0033116 endoplasmic reticulum-Gol
gi intermediate compartme
nt membrane
 TAS cellular_component
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0048208 COPII vesicle coating
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0000139 Golgi membrane
 IEA cellular_component
GO:0001948 glycoprotein binding
 IPI molecular_function
GO:0002020 protease binding
 IPI molecular_function
GO:0002576 platelet degranulation
 TAS biological_process
GO:0004867 serine-type endopeptidase
inhibitor activity
 IEA molecular_function
GO:0004867 serine-type endopeptidase
inhibitor activity
 NAS molecular_function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IDA 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: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: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
 TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IMP 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:0005783 endoplasmic reticulum
 IEA cellular_component
GO:0005783 endoplasmic reticulum
 IEA cellular_component
GO:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0006888 ER to Golgi vesicle-media
ted transport
 TAS biological_process
GO:0006953 acute-phase response
 IEA biological_process
GO:0007596 blood coagulation
 IEA biological_process
GO:0007599 hemostasis
 IEA biological_process
GO:0010466 negative regulation of pe
ptidase activity
 IEA biological_process
GO:0010951 negative regulation of en
dopeptidase activity
 IEA biological_process
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030414 peptidase inhibitor activ
ity
 IEA molecular_function
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0033116 endoplasmic reticulum-Gol
gi intermediate compartme
nt membrane
 TAS cellular_component
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0048208 COPII vesicle coating
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0001948 glycoprotein binding
 IPI molecular_function
GO:0002020 protease binding
 IPI molecular_function
GO:0002576 platelet degranulation
 TAS biological_process
GO:0004867 serine-type endopeptidase
inhibitor activity
 NAS molecular_function
GO:0004867 serine-type endopeptidase
inhibitor activity
 IDA 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: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:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IMP 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:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005783 endoplasmic reticulum
 IDA cellular_component
GO:0005788 endoplasmic reticulum lum
en
 TAS cellular_component
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0006888 ER to Golgi vesicle-media
ted transport
 TAS biological_process
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0030134 ER to Golgi transport ves
icle
 TAS cellular_component
GO:0031093 platelet alpha granule lu
men
 TAS cellular_component
GO:0033116 endoplasmic reticulum-Gol
gi intermediate compartme
nt membrane
 TAS cellular_component
GO:0042802 identical protein binding
 IPI molecular_function
GO:0042802 identical protein binding
 IPI molecular_function
GO:0048208 COPII vesicle coating
 TAS biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component

KEGG pathways

hsa04610  Complement and coagulation cascades

Diseases

Associated diseases References
Endometriosis associated infertility INFBASE19263878
Endometriosis INFBASE19263878
{Pulmonary disease, chronic obstructive, susceptibility to} OMIM107400
Emphysema-cirrhosis, due to AAT deficiency OMIM107400
Emphysema due to AAT deficiency OMIM107400
Chronic obstructive pulmonary disease (COPD) KEGGH01714
Alpha-1-antitrypsin (A1AT) deficiency KEGGH01103

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19263878 Endometrio
sis
52 (26 fertile
women, 26 infer
tile ones)
 Female infertility TF
C3serum amyloid P-component
alpha-1-antitrypsin and clusterin
 Show abstract