IL1A interleukin 1 alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL1Aprovided by HGNC
Official Full Name: interleukin 1 alphaprovided by HGNC
Primary source: HGNC:HGNC:5991
See related: Ensembl:ENSG00000115008 MIM:147760; AllianceGenome:HGNC:5991
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IL1; IL-1A; IL1F1; IL1-ALPHA; IL-1 alpha
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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Expression: Biased expression in testis (RPKM 5.2), esophagus (RPKM 4.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (112773925..112784493, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (113200569..113210953, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (113531502..113542070, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between IL-6 -174 G/C (rs1800795) and IL-1A -889 C/T (rs1800587) cytokine variants with polycystic ovary syndrome in Iranian women: A case-control study.
Title: Association between IL-6 -174 G/C (rs1800795) and IL-1A -889 C/T (rs1800587) cytokine variants with polycystic ovary syndrome in Iranian women: A case-control study.
Interleukin-1alpha inhibits transforming growth factor-beta1 and beta2-induced extracellular matrix production, remodeling and signaling in human lung fibroblasts: Master regulator in lung mucosal repair.
Title: Interleukin-1α inhibits transforming growth factor-β1 and β2-induced extracellular matrix production, remodeling and signaling in human lung fibroblasts: Master regulator in lung mucosal repair.
Interleukin-1 increases SERPINE1 expression in human granulosa-lutein cell via P50/P52 signaling pathways.
Title: Interleukin-1 increases SERPINE1 expression in human granulosa-lutein cell via P50/P52 signaling pathways.
Processing of angiocrine alarmin IL-1alpha in endothelial cells promotes lung and liver fibrosis.
Title: Processing of angiocrine alarmin IL-1α in endothelial cells promotes lung and liver fibrosis.
Association of genetic polymorphism of interleukin 1-alpha and interleukin 1-beta with external apical root resorption in orthodontic patients.
Title: Association of genetic polymorphism of interleukin 1-alpha and interleukin 1-beta with external apical root resorption in orthodontic patients.
Correlations of IL-1 and IL-6 Gene polymorphisms with hypertrophic cardiomyopathy.
Title: Correlations of IL-1 and IL-6 Gene polymorphisms with hypertrophic cardiomyopathy.
Serum Interleukin-1 Levels Are Associated with Intracranial Aneurysm Instability.
Title: Serum Interleukin-1 Levels Are Associated with Intracranial Aneurysm Instability.
Group B streptococcus induces cellular senescence in human amnion epithelial cells through a partial interleukin-1-mediated mechanism.
Title: Group B streptococcus induces cellular senescence in human amnion epithelial cells through a partial interleukin-1-mediated mechanism.
Analysis of the effects of importin alpha1 on the nuclear translocation of IL-1alpha in HeLa cells.
Title: Analysis of the effects of importin α1 on the nuclear translocation of IL-1α in HeLa cells.
IFI16 Induced by Direct Interaction between Esophageal Squamous Cell Carcinomas and Macrophages Promotes Tumor Progression via Secretion of IL-1alpha.
Title: IFI16 Induced by Direct Interaction between Esophageal Squamous Cell Carcinomas and Macrophages Promotes Tumor Progression via Secretion of IL-1α.

Submit: New GeneRIF Correction See all GeneRIFs (565)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Infectious wild type HIV-1 production is enhanced by 293T cells over-expressing IL1A	PubMed
Knockdown of interleukin 1, alpha (IL1A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cytokines induced in vitro by HIV-1 gp120 in normal peripheral blood mononuclear cells (PBMC) include interferon-alpha (IFN-alpha) and IFN-gamma, tumor necrosis factor-alpha (TNF-alpha), IL-6, IL-10, IL-1 alpha and IL-1 beta	PubMed
	env	HIV-1 gp120 increases the levels of prostaglandin E2 (PGE2) and IL-1 in human cells	PubMed
	env	Addition of HIV-1 gp120 to IL-1 treated human granulocytes or monocytes results in a slower movement that is chemokinetic (loss of directionality or random) in nature	PubMed
Envelope surface glycoprotein gp160, precursor	env	IL-1 and TNF-alpha production are induced by the treatment of cells with HIV-1 gp160	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 or gp120 synthetic peptides induce the production of interleukin (IL)-1 and tumor necrosis factor (TNF); in contrast, gp41 or gp120 synthetic peptides are able to depress the production of interferon (IFN)-alpha, IFN-gamma, and IL-2	PubMed
Tat	tat	IL1A is upregulated in HIV-1 Tat and NC cotransfection of HEK 293T cells	PubMed
	tat	IL-1 stimulated NO production and iNOS mRNA expression are down-regulated by pretreatment with HIV-1 Tat-SOD fusion proteins in cultured chondrocytes	PubMed
	tat	HIV-1 Tat upregulates IL-1beta expression in a variety of cell types, including primary blood mononuclear cells (PBMCs), Jurkat and microglia	PubMed
	tat	HIV-1 Tat downregulates IL-1alpha expression in Raji cells	PubMed
Vpr	vpr	HIV-1 Vpr upregulates the gene expression of IL1A in human monocyte-derived dendritic cells	PubMed
nucleocapsid	gag	IL1A is upregulated in HIV-1 Tat and NC cotransfection of HEK 293T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:211100 (e-PCR)
- UniSTS:156166

SHGC-86275 (e-PCR)
- UniSTS:104499

GDB:181250 (e-PCR)
- UniSTS:155218

GDB:190869 (e-PCR)
- UniSTS:20077

GDB:178390 (e-PCR)
- UniSTS:155000

RH18071 (e-PCR)
- UniSTS:27526

IL1A (e-PCR), detects polymorphism
- UniSTS:264072

SHGC-6140 (e-PCR)
- UniSTS:25997

G43002 (e-PCR)
- UniSTS:94871

D2S2565 (e-PCR)
- UniSTS:80628

IL1A_v436 (e-PCR)
- UniSTS:477433

IL1A_1360.1 (e-PCR)
- UniSTS:477433

GDB:196942 (e-PCR)
- UniSTS:155897

GDB:210902 (e-PCR)
- UniSTS:156158

GDB:177384 (e-PCR)
- UniSTS:154879

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables interleukin-1 receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in connective tissue replacement involved in inflammatory response wound healing	IEA Inferred from Electronic Annotation more info
involved_in cytokine production	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in fever generation	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of establishment of Sertoli cell barrier	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of immature T cell proliferation in thymus	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of interleukin-2 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of interleukin-2 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of positive regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of mitotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neutrophil migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of prostaglandin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stress-activated MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in response to L-ascorbic acid	IEA Inferred from Electronic Annotation more info
involved_in response to copper ion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ozone	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: interleukin-1 alpha

Names: hematopoietin-1; preinterleukin 1 alpha; pro-interleukin-1-alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008850.1 RefSeqGene

Range

5902..16470

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000575.5 → NP_000566.3 interleukin-1 alpha precursor

See identical proteins and their annotated locations for NP_000566.3

Status: REVIEWED

Source sequence(s)

AC112235

Consensus CDS

CCDS2101.1

UniProtKB/Swiss-Prot

P01583, Q53QF9, Q7RU02

Related

ENSP00000263339.3, ENST00000263339.4

Conserved Domains (2) summary

smart00125
Location:129 → 267

IL1; Interleukin-1 homologues

pfam02394
Location:1 → 108

IL1_propep; Interleukin-1 propeptide
NM_001371554.1 → NP_001358483.1 interleukin-1 alpha precursor

Status: REVIEWED

Source sequence(s)

AC112235

Consensus CDS

CCDS2101.1

UniProtKB/Swiss-Prot

P01583, Q53QF9, Q7RU02

Conserved Domains (2) summary

smart00125
Location:129 → 267

IL1; Interleukin-1 homologues

pfam02394
Location:1 → 108

IL1_propep; Interleukin-1 propeptide