Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3552
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL1A   Gene   UCSC   Ensembl
Aliases IL-1A, IL1, IL1-ALPHA, IL1F1
Gene name interleukin 1 alpha
Alternate names interleukin-1 alpha, IL-1 alpha, hematopoietin-1, preinterleukin 1 alpha, pro-interleukin-1-alpha,
Gene location 2q14.1 (112785397: 112773914)     Exons: 7     NC_000002.12
Gene summary(Entrez) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
OMIM 147760

SNPs

rs17561

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000002.12   g.112779646C>A
NC_000002.11   g.113537223C>A
NG_008850.1   g.10749G>T
NM_000575.4   c.340G>T
NP_000566.3   p.Ala114Ser
  
rs1304037

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

  
NC_000002.11   g.113532236T>C
NC_000002.12   g.112774659T>C
NG_008850.1   g.15736A>G
NM_000575.4   c.*408A>G
  
rs2856836

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000002.11   g.113532083A>G
NC_000002.12   g.112774506A>G
NG_008850.1   g.15889T>C
NM_000575.4   c.*561T>C
rs3783525

Strand: -   Allele origin: unknown  Allele change: A/T   Mutation type: snp

  
NC_000002.12   g.112784242T>A
NC_000002.11   g.113541819T>A
NG_008850.1   g.6153A>T
NM_000575.4   c.-9+201A>T
rs3783550

Strand: -   Allele origin: unknown  Allele change: A/C   Mutation type: snp

  
NC_000002.11   g.113532885G>T
NC_000002.12   g.112775308G>T
NG_008850.1   g.15087C>A
NM_000575.4   c.616-41C>A
rs3783553

Strand: -   Allele origin: unknown  Allele change: -/TTCA   Mutation type: in-del

NC_000002.12   g.112774138_112774139insTGAA
NC_000002.11   g.113531715_113531716insTGAA
NG_008850.1   g.16256_16257insTTCA
NM_000575.4   c.*928_*929insTTCA
  

Protein Summary

Protein general information P01583  

Name: Interleukin 1 alpha (IL 1 alpha) (Hematopoietin 1)

Length: 271  Mass: 30,607

Sequence MAKVPDMFEDLKNCYSENEEDSSSIDHLSLNQKSFYHVSYGPLHEGCMDQSVSLSISETSKTSKLTFKESMVVVA
TNGKVLKKRRLSLSQSITDDDLEAIANDSEEEIIKPRSAPFSFLSNVKYNFMRIIKYEFILNDALNQSIIRANDQ
YLTAAALHNLDEAVKFDMGAYKSSKDDAKITVILRISKTQLYVTAQDEDQPVLLKEMPEIPKTITGSETNLLFFW
ETHGTKNYFTSVAHPNLFIATKQDYWVCLAGGPPSITDFQILENQA
Structural information
Interpro:  IPR003295 IPR020877 IPR000975 IPR003502 IPR008996
Prosite:   PS00253

Pfam:  
PF00340 PF02394

PDB:  
1ITA 2ILA 2KKI 2L5X
PDBsum:   1ITA 2ILA 2KKI 2L5X

DIP:  
40550
MINT:   1534764
STRING:   ENSP00000263339;
Other Databases GeneCards:  IL1A;  Malacards:  IL1A

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001660 fever generation
IEA biological_process
GO:0002248 connective tissue replace
ment involved in inflamma
tory response wound heali
ng
IEA biological_process
GO:0005125 cytokine activity
IMP molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IBA molecular_function
GO:0005507 copper ion binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
IMP cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0006955 immune response
IEA biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IMP biological_process
GO:0034605 cellular response to heat
IDA biological_process
GO:0035234 ectopic germ cell program
med cell death
IEA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IBA biological_process
GO:0045086 positive regulation of in
terleukin-2 biosynthetic
process
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
ISS biological_process
GO:0045840 positive regulation of mi
totic nuclear division
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0046330 positive regulation of JN
K cascade
IBA biological_process
GO:0046688 response to copper ion
IDA biological_process
GO:0050714 positive regulation of pr
otein secretion
IMP biological_process
GO:0050715 positive regulation of cy
tokine secretion
IDA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IEA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
TAS biological_process
GO:0001660 fever generation
IEA biological_process
GO:0002248 connective tissue replace
ment involved in inflamma
tory response wound heali
ng
IEA biological_process
GO:0005125 cytokine activity
IEA molecular_function
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
IMP molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IEA molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IBA molecular_function
GO:0005507 copper ion binding
IDA 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
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0005615 extracellular space
IMP cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0006955 immune response
IEA biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IEA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IMP biological_process
GO:0034605 cellular response to heat
IDA biological_process
GO:0035234 ectopic germ cell program
med cell death
IEA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IBA biological_process
GO:0045086 positive regulation of in
terleukin-2 biosynthetic
process
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
IEA biological_process
GO:0045766 positive regulation of an
giogenesis
ISS biological_process
GO:0045840 positive regulation of mi
totic nuclear division
IMP biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0046330 positive regulation of JN
K cascade
IBA biological_process
GO:0046688 response to copper ion
IDA biological_process
GO:0050714 positive regulation of pr
otein secretion
IMP biological_process
GO:0050715 positive regulation of cy
tokine secretion
IDA biological_process
GO:0051781 positive regulation of ce
ll division
IEA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IEA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
TAS biological_process
GO:0005125 cytokine activity
TAS molecular_function
GO:0005125 cytokine activity
IMP molecular_function
GO:0005149 interleukin-1 receptor bi
nding
IBA molecular_function
GO:0005507 copper ion binding
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0005615 extracellular space
IMP cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006954 inflammatory response
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IMP biological_process
GO:0034605 cellular response to heat
IDA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IBA biological_process
GO:0045086 positive regulation of in
terleukin-2 biosynthetic
process
IMP biological_process
GO:0045766 positive regulation of an
giogenesis
ISS biological_process
GO:0045840 positive regulation of mi
totic nuclear division
IMP biological_process
GO:0046330 positive regulation of JN
K cascade
IBA biological_process
GO:0046688 response to copper ion
IDA biological_process
GO:0050714 positive regulation of pr
otein secretion
IMP biological_process
GO:0050715 positive regulation of cy
tokine secretion
IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
TAS biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04010  MAPK signaling pathway
hsa05152  Tuberculosis
hsa05418  Fluid shear stress and atherosclerosis
hsa05164  Influenza A
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05162  Measles
hsa04380  Osteoclast differentiation
hsa04932  Non-alcoholic fatty liver disease
hsa05323  Rheumatoid arthritis
hsa05321  Inflammatory bowel disease
hsa04640  Hematopoietic cell lineage
hsa05140  Leishmaniasis
hsa04217  Necroptosis
hsa05133  Pertussis
hsa05132  Salmonella infection
hsa05332  Graft-versus-host disease
hsa04940  Type I diabetes mellitus
hsa05020  Prion diseases

Diseases

Associated diseases References
Aggressive periodontitis PMID: 19892918
Alopecia areata PMID: 11703512
Alzheimer's disease PMID: 12452480
Ankylosing spondylitis PMID: 16206345
Arthritis PMID: 11981324
Asthenozoospermia PMID: 11839394
Atopy PMID: 12746420
Behcet's disease PMID: 12730545
Biliary atresia PMID: 12100571
Cancer PMID: 19917630
Celiac disease PMID: 16078996
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Cystic fibrosis PMID: 19431193
Dementia PMID: 19546559
Dermatitis PMID: 18416755
Dermatomyositis PMID: 19035492
Diabetes PMID: 19792847
Dysthymia PMID: 14997019
Early onset periodontitis PMID: 11350506
Endometrial cancer PMID: 27136893
Endometriosis PMID: 25336714
Endometriotic lesions PMID: 15746198
Epilepsy PMID: 19066720
Erythema nodosum PMID: 19225544
Gingivitis PMID: 17492470
Glomerulonephritis PMID: 19280228
Graves disease PMID: 8954062
Graves ophthalmopathy PMID: 19702713
Impaired spermatogenesis PMID: 17215863
Irritable bowel syndrome PMID: 19844779
Juvenile arthritis PMID: 15170937
Keratoconus PMID: 19043479
Lymphocytosis PMID: 18361934
Macular degeneration PMID: 16384981
Migraine disorders PMID: 19559392
Myasthenia gravis PMID: 11777547
Myocardial infarction PMID: 19811432
Oocyte development PMID: 9513849
Oocyte maturation PMID: 9513849
Osteoarthritis PMID: 12421093
Osteolysis PMID: 18821666
Osteomyelitis PMID: 18971305
Pancreatitis PMID: 18815552
Parkinson's disease PMID: 18760325
Pemphigus PMID: 19470040
Periodontal disease PMID: 14514232
Periodontitis PMID: 12874528
Polycystic ovary syndrome (PCOS) PMID: 16965825
Female infertility INFBASE25631342
Female infertility INFBASE16046047
Endometriosis INFBASE15746198
Preeclampsia PMID: 17179726
Preterm delivery PMID: 15951664
Psoriasis PMID: 16918024
Restenosis PMID: 12082592
Retinopathy PMID: 18787502
Rheumatoid arthritis PMID: 18576312
Rhinitis PMID: 14533660
Sarcoidosis PMID: 12737276
Schizophrenia PMID: 18583979
Silicosis PMID: 11241561
Spermatogenetic defects PMID: 1601744
Spinal diseases PMID: 18469698
Spondylitis PMID: 18484691
Systemic lupus erythematosus PMID: 15219382
Systemic sclerosis KEGG: H01492

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25336714 Endometrio
sis
rs6542095, rs11677416, rs3783550, rs3783525, rs3783553, rs2856836, rs1304037 and rs17561 Europea
n, Japa
nese
12476 (3908 end
ometriosis case
s, 8568 control
)

Show abstract
23635948 Endometrio
sis
Japanes
e
834 (377 patien
ts with endomet
riosis, 457 hea
lthy controls)
IL1A (rs17561
rs1304037
rs2856836 and rs3783553)
Show abstract
25631342 Endometrio
sis

89 (65 women in
vestigated for
secondary infer
tility, 23 cont
rols)
Female infertility IL-1A
IL-6
LIF
LIFR and gp130
Show abstract
16762180 Endometrio
sis

55 (40 women wi
th endometriosi
s, 15 control w
omen)
IL-1alpha
IL-1beta
Show abstract
15746198 Endometrio
sis

74 (37 patients
with peritonea
l or ovarian en
dometriosis, 37
women without
endometriosis)
MMP-1
IL-1alpha
Show abstract
16046047 Endometrio
sis

58 (43 with end
ometriosis, 15
without endomet
riosis )
IL-1alpha
IL-1 sRII and IL-1 Ra
Show abstract