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2024-04-25 03:02:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000575 2943 bp mRNA linear PRI 08-JUN-2013
DEFINITION Homo sapiens interleukin 1, alpha (IL1A), mRNA.
ACCESSION NM_000575
VERSION NM_000575.3 GI:27894329
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2943)
AUTHORS Mills,K.H., Dungan,L.S., Jones,S.A. and Harris,J.
TITLE The role of inflammasome-derived IL-1 in driving IL-17 responses
JOURNAL J. Leukoc. Biol. 93 (4), 489-497 (2013)
PUBMED 23271701
REMARK GeneRIF: IL-1-driven IL-17 production plays a critical role in host
protective immunity to infection with fungi, bacteria, and certain
viruses. (Review)
Review article
REFERENCE 2 (bases 1 to 2943)
AUTHORS Lewis,J.S. Jr., Furman,B.D., Zeitler,E., Huebner,J.L., Kraus,V.B.,
Guilak,F. and Olson,S.A.
TITLE Genetic and cellular evidence of decreased inflammation associated
with reduced incidence of posttraumatic arthritis in MRL/MpJ mice
JOURNAL Arthritis Rheum. 65 (3), 660-670 (2013)
PUBMED 23203659
REMARK GeneRIF: Compared to C57BL/6 mice, MRL/MpJ mice had less severe
inflammation following joint injury, lower gene expression of tumor
necrosis factor alpha and IL-1beta in the synovial tissue and lower
protein levels of IL-1alpha and IL-1beta in the synovial fluid.
REFERENCE 3 (bases 1 to 2943)
AUTHORS Zheng,Y., Humphry,M., Maguire,J.J., Bennett,M.R. and Clarke,M.C.
TITLE Intracellular interleukin-1 receptor 2 binding prevents cleavage
and activity of interleukin-1alpha, controlling necrosis-induced
sterile inflammation
JOURNAL Immunity 38 (2), 285-295 (2013)
PUBMED 23395675
REMARK GeneRIF: Intracellular interleukin-1 receptor 2 binding prevents
cleavage and activity of interleukin-1alpha, controlling
necrosis-induced sterile inflammation.
REFERENCE 4 (bases 1 to 2943)
AUTHORS Kaarvatn,M.H., Jotanovic,Z., Mihelic,R., Etokebe,G.E.,
Mulac-Jericevic,B., Tijanic,T., Balen,S., Sestan,B. and Dembic,Z.
TITLE Associations of the interleukin-1 gene locus polymorphisms with
risk to hip and knee osteoarthritis: gender and subpopulation
differences
JOURNAL Scand. J. Immunol. 77 (2), 151-161 (2013)
PUBMED 23216199
REMARK GeneRIF: Women carriers of the 1-2-1-1 haplotype [IL-1A(rs1800587)
- IL-1B(rs1143634) - IL-1B(rs16944) - IL-1RN(VNTR)] had sixfold
lower risk to develop knee osteoarthritis.
REFERENCE 5 (bases 1 to 2943)
AUTHORS Tawil,G., Akl,F.A., Dagher,M.F., Karam,W., Abdallah Hajj
Hussein,I., Leone,A. and Jurjus,A.R.
TITLE Prevalence of IL-1beta +3954 and IL-1alpha-889 polymorphisms in the
Lebanese population and its association with the severity of adult
chronic periodontitis
JOURNAL J. Biol. Regul. Homeost. Agents 26 (4), 597-606 (2012)
PUBMED 23241110
REMARK GeneRIF: subjects homozygous for allele2 of the IL-1beta+3954 and
IL-1alpha-889 were significantly more at risk for severe
periodontitis with OR of 51.42.
REFERENCE 6 (bases 1 to 2943)
AUTHORS Kumar,S., Millis,A.J. and Baglioni,C.
TITLE Expression of interleukin 1-inducible genes and production of
interleukin 1 by aging human fibroblasts
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (10), 4683-4687 (1992)
PUBMED 1584804
REFERENCE 7 (bases 1 to 2943)
AUTHORS Clinton,S.K., Underwood,R., Hayes,L., Sherman,M.L., Kufe,D.W. and
Libby,P.
TITLE Macrophage colony-stimulating factor gene expression in vascular
cells and in experimental and human atherosclerosis
JOURNAL Am. J. Pathol. 140 (2), 301-316 (1992)
PUBMED 1739124
REFERENCE 8 (bases 1 to 2943)
AUTHORS Hogquist,K.A., Nett,M.A., Unanue,E.R. and Chaplin,D.D.
TITLE Interleukin 1 is processed and released during apoptosis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (19), 8485-8489 (1991)
PUBMED 1924307
REFERENCE 9 (bases 1 to 2943)
AUTHORS Ishikura,H., Takahashi,C., Kanagawa,K., Hirata,H., Imai,K. and
Yoshiki,T.
TITLE Cytokine regulation of ICAM-1 expression on human renal tubular
epithelial cells in vitro
JOURNAL Transplantation 51 (6), 1272-1275 (1991)
PUBMED 1675504
REFERENCE 10 (bases 1 to 2943)
AUTHORS Graves,B.J., Hatada,M.H., Hendrickson,W.A., Miller,J.K.,
Madison,V.S. and Satow,Y.
TITLE Structure of interleukin 1 alpha at 2.7-A resolution
JOURNAL Biochemistry 29 (11), 2679-2684 (1990)
PUBMED 2346741
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from X02851.1, BC035169.2 and
CA307202.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 24, 2003 this sequence version replaced gi:23346430.
Summary: 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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC035169.2, X02851.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..2943
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q14"
gene 1..2943
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="interleukin 1, alpha"
/db_xref="GeneID:3552"
/db_xref="HGNC:5991"
/db_xref="MIM:147760"
exon 1..952
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
variation 12
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800587"
STS 71..466
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/standard_name="GDB:181250"
/db_xref="UniSTS:155218"
STS 389..692
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/standard_name="SHGC-86275"
/db_xref="UniSTS:104499"
misc_feature 940..942
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="upstream in-frame stop codon"
exon 953..1007
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
CDS 961..1776
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="preinterleukin 1 alpha; hematopoietin-1;
interleukin-1 alpha; pro-interleukin-1-alpha; IL-1 alpha"
/codon_start=1
/product="interleukin-1 alpha proprotein"
/protein_id="NP_000566.3"
/db_xref="GI:27894330"
/db_xref="CCDS:CCDS2101.1"
/db_xref="GeneID:3552"
/db_xref="HGNC:5991"
/db_xref="MIM:147760"
/translation="
MAKVPDMFEDLKNCYSENEEDSSSIDHLSLNQKSFYHVSYGPLHEGCMDQSVSLSISETSKTSKLTFKESMVVVATNGKVLKKRRLSLSQSITDDDLEAIANDSEEEIIKPRSAPFSFLSNVKYNFMRIIKYEFILNDALNQSIIRANDQYLTAAALHNLDEAVKFDMGAYKSSKDDAKITVILRISKTQLYVTAQDEDQPVLLKEMPEIPKTITGSETNLLFFWETHGTKNYFTSVAHPNLFIATKQDYWVCLAGGPPSITDFQILENQA
"
misc_feature 961..1287
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="Interleukin-1 propeptide; Region: IL1_propep;
pfam02394"
/db_xref="CDD:111302"
misc_feature 1219..1221
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
mat_peptide 1297..1773
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/product="interleukin-1 alpha"
misc_feature 1312..1314
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:00253"
misc_feature 1357..1761
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="Interleukin-1 homologes; Cytokines with various
biological functions. Interleukin 1 alpha and beta are
also known as hematopoietin and catabolin. This family
also contains interleukin-1 receptor antagonists
(inhibitors); Region: IL1; cd00100"
/db_xref="CDD:28984"
misc_feature order(1363..1365,1369..1371,1747..1749)
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="receptor activation site; other site"
/db_xref="CDD:28984"
misc_feature order(1378..1383,1411..1413,1417..1419,1426..1428,
1432..1434,1435..1437,1444..1446,1468..1470,1591..1599,
1633..1635,1639..1641,1645..1653,1708..1710)
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/note="receptor binding site; other site"
/db_xref="CDD:28984"
exon 1008..1056
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
exon 1057..1279
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
variation 1214
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783531"
variation 1236
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="c"
/replace="t"
/db_xref="dbSNP:20540"
exon 1280..1450
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
variation 1300
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="g"
/replace="t"
/db_xref="dbSNP:17561"
variation 1333
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:17562"
variation 1372
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783581"
exon 1451..1575
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
variation 1486
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1801715"
exon 1576..2928
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/inference="alignment:Splign:1.39.8"
STS 1580..1767
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/standard_name="IL1A"
/db_xref="UniSTS:264072"
variation 1773
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783588"
STS 1791..2090
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/standard_name="D2S2565"
/db_xref="UniSTS:80628"
STS 1967..2786
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/standard_name="IL1A_v436"
/db_xref="UniSTS:477433"
variation 2184
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1304037"
variation 2337
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2856836"
variation 2465
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783589"
variation 2473
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="c"
/replace="g"
/db_xref="dbSNP:41294736"
variation 2695
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="t"
/db_xref="dbSNP:3783590"
variation 2704..2705
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace=""
/replace="ttca"
/db_xref="dbSNP:3783553"
polyA_signal 2900..2905
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
variation 2906
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3783591"
polyA_site 2918
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 2928
/gene="IL1A"
/gene_synonym="IL-1A; IL1; IL1-ALPHA; IL1F1"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
accaggcaacaccattgaaggctcatatgtaaaaatccatgccttcctttctcccaatctccattcccaaacttagccactggcttctggctgaggccttacgcatacctcccggggcttgcacacaccttcttctacagaagacacaccttgggcatatcctacagaagaccaggcttctctctggtccttggtagagggctactttactgtaacagggccagggtggagagttctctcctgaagctccatcccctctataggaaatgtgttgacaatattcagaagagtaagaggatcaagacttctttgtgctcaaataccactgttctcttctctaccctgccctaaccaggagcttgtcaccccaaactctgaggtgatttatgccttaatcaagcaaacttccctcttcagaaaagatggctcattttccctcaaaagttgccaggagctgccaagtattctgccaattcaccctggagcacaatcaacaaattcagccagaacacaactacagctactattagaactattattattaataaattcctctccaaatctagccccttgacttcggatttcacgatttctcccttcctcctagaaacttgataagtttcccgcgcttccctttttctaagactacatgtttgtcatcttataaagcaaaggggtgaataaatgaaccaaatcaataacttctggaatatctgcaaacaacaataatatcagctatgccatctttcactattttagccagtatcgagttgaatgaacatagaaaaatacaaaactgaattcttccctgtaaattccccgttttgacgacgcacttgtagccacgtagccacgcctacttaagacaattacaaaaggcgaagaagactgactcaggcttaagctgccagccagagagggagtcatttcattggcgtttgagtcagcaaagaagtcaagatggccaaagttccagacatgtttgaagacctgaagaactgttacagtgaaaatgaagaagacagttcctccattgatcatctgtctctgaatcagaaatccttctatcatgtaagctatggcccactccatgaaggctgcatggatcaatctgtgtctctgagtatctctgaaacctctaaaacatccaagcttaccttcaaggagagcatggtggtagtagcaaccaacgggaaggttctgaagaagagacggttgagtttaagccaatccatcactgatgatgacctggaggccatcgccaatgactcagaggaagaaatcatcaagcctaggtcagcaccttttagcttcctgagcaatgtgaaatacaactttatgaggatcatcaaatacgaattcatcctgaatgacgccctcaatcaaagtataattcgagccaatgatcagtacctcacggctgctgcattacataatctggatgaagcagtgaaatttgacatgggtgcttataagtcatcaaaggatgatgctaaaattaccgtgattctaagaatctcaaaaactcaattgtatgtgactgcccaagatgaagaccaaccagtgctgctgaaggagatgcctgagatacccaaaaccatcacaggtagtgagaccaacctcctcttcttctgggaaactcacggcactaagaactatttcacatcagttgcccatccaaacttgtttattgccacaaagcaagactactgggtgtgcttggcaggggggccaccctctatcactgactttcagatactggaaaaccaggcgtaggtctggagtctcacttgtctcacttgtgcagtgttgacagttcatatgtaccatgtacatgaagaagctaaatcctttactgttagtcatttgctgagcatgtactgagccttgtaattctaaatgaatgtttacactctttgtaagagtggaaccaacactaacatataatgttgttatttaaagaacaccctatattttgcatagtaccaatcattttaattattattcttcataacaattttaggaggaccagagctactgactatggctaccaaaaagactctacccatattacagatgggcaaattaaggcataagaaaactaagaaatatgcacaatagcagttgaaacaagaagccacagacctaggatttcatgatttcatttcaactgtttgccttctacttttaagttgctgatgaactcttaatcaaatagcataagtttctgggacctcagttttatcattttcaaaatggagggaataatacctaagccttcctgccgcaacagttttttatgctaatcagggaggtcattttggtaaaatacttcttgaagccgagcctcaagatgaaggcaaagcacgaaatgttattttttaattattatttatatatgtatttataaatatatttaagataattataatatactatatttatgggaaccccttcatcctctgagtgtgaccaggcatcctccacaatagcagacagtgttttctgggataagtaagtttgatttcattaatacagggcattttggtccaagttgtgcttatcccatagccaggaaactctgcattctagtacttgggagacctgtaatcatataataaatgtacattaattaccttgagccagtaattggtccgatctttgactcttttgccattaaacttacctgggcattcttgtttcaattccacctgcaatcaagtcctacaagctaaaattagatgaactcaactttgacaaccatgagaccactgttatcaaaactttcttttctggaatgtaatcaatgtttcttctaggttctaaaaattgtgatcagaccataatgttacattattatcaacaatagtgattgatagagtgttatcagtcataactaaataaagcttgcaacaaaattctctgacaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3552 -> Molecular function: GO:0005125 [cytokine activity] evidence: IMP
GeneID:3552 -> Molecular function: GO:0005149 [interleukin-1 receptor binding] evidence: IEA
GeneID:3552 -> Molecular function: GO:0005507 [copper ion binding] evidence: IDA
GeneID:3552 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:3552 -> Biological process: GO:0001660 [fever generation] evidence: IEA
GeneID:3552 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:3552 -> Biological process: GO:0006954 [inflammatory response] evidence: TAS
GeneID:3552 -> Biological process: GO:0006955 [immune response] evidence: IEA
GeneID:3552 -> Biological process: GO:0008283 [cell proliferation] evidence: TAS
GeneID:3552 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IDA
GeneID:3552 -> Biological process: GO:0010575 [positive regulation vascular endothelial growth factor production] evidence: ISS
GeneID:3552 -> Biological process: GO:0019221 [cytokine-mediated signaling pathway] evidence: IMP
GeneID:3552 -> Biological process: GO:0034605 [cellular response to heat] evidence: IDA
GeneID:3552 -> Biological process: GO:0045086 [positive regulation of interleukin-2 biosynthetic process] evidence: IMP
GeneID:3552 -> Biological process: GO:0045766 [positive regulation of angiogenesis] evidence: ISS
GeneID:3552 -> Biological process: GO:0045840 [positive regulation of mitosis] evidence: IMP
GeneID:3552 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:3552 -> Biological process: GO:0046688 [response to copper ion] evidence: IDA
GeneID:3552 -> Biological process: GO:0050715 [positive regulation of cytokine secretion] evidence: IDA
GeneID:3552 -> Biological process: GO:0051781 [positive regulation of cell division] evidence: IEA
GeneID:3552 -> Biological process: GO:2001240 [negative regulation of extrinsic apoptotic signaling pathway in absence of ligand] evidence: TAS
GeneID:3552 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:3552 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
GeneID:3552 -> Cellular component: GO:0005615 [extracellular space] evidence: IMP
GeneID:3552 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
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@meso_cacase at
DBCLS
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