Human Gene IFNA1 (uc003zpd.2)
  Description: Homo sapiens interferon, alpha 1 (IFNA1), mRNA.
RefSeq Summary (NM_024013): The protein encoded by this gene is produced by macrophages and has antiviral activity. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Sep 2011].
Transcript (Including UTRs)
   Position: hg19 chr9:21,440,453-21,441,315 Size: 863 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr9:21,440,507-21,441,076 Size: 570 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:21,440,453-21,441,315)mRNA (may differ from genome)Protein (189 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IFNA1_HUMAN
DESCRIPTION: RecName: Full=Interferon alpha-1/13; Short=IFN-alpha-1/13; AltName: Full=Interferon alpha-D; Short=LeIF D; Flags: Precursor;
FUNCTION: Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.
SUBCELLULAR LOCATION: Secreted.
POLYMORPHISM: Two forms exist; alpha-1a (shown here) and alpha-1b.
MISCELLANEOUS: Interferons alpha-1 and alpha-13 have identical protein sequences.
SIMILARITY: Belongs to the alpha/beta interferon family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ifna1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IFNA1
CDC HuGE Published Literature: IFNA1
Positive Disease Associations: lupus erythematosus , malaria
Related Studies:
  1. lupus erythematosus
    Nakashima, H. et al. 2005, Association between IFNA genotype and the risk of systemic lupus erythematosus, Clinical rheumatology. 2005 Feb;24(1):38-40. [PubMed 15674657]
    The results showed that no IFN-alpha genotype was significantly associated with the risk of SLE.
  2. lupus erythematosus
    Nakashima, H. et al. 2004, Association between IFNA genotype and the risk of systemic lupus erythematosus, Clinical rheumatology. 2005 Feb;24(1):38-40. [PubMed 15674657]
    We analyzed the association between IFN-alpha genotype and the risk of SLE to clarify whether IFN-alpha plays a central role in susceptibility to SLE. The results showed that no IFN-alpha genotype was significantly associated with the risk of SLE.
  3. malaria
    Aucan, C. et al. 2003, Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia., Genes and immunity. 2003 Jun;4(4):275-82. [PubMed 12761564]
    These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IFNA1
Diseases sorted by gene-association score: hepatitis c (26), hepatitis (21), hepatitis b (19), newcastle disease (9), hairy cell leukemia (9), kaposi sarcoma (8), liver cirrhosis (7), hypothyroidism (7), viral hepatitis (7), influenza (7), kidney cancer (7), herpes simplex (7), oral erosive lichen (6), essential thrombocythemia (5), cutaneous t cell lymphoma (5), lung mixed small cell and squamous cell carcinoma (5), measles (5), relapsing-remitting multiple sclerosis (5), viral infectious disease (4), mycosis fungoides (4), leukemia, chronic myeloid, somatic (4), hypereosinophilic syndrome (4), renal cell carcinoma (4), burkitt lymphoma (4), vaccinia (4), liver disease (4), lymphomatoid granulomatosis (4), hepatocellular carcinoma (4), fanconi anemia, complementation group c (4), hymenolepiasis (4), behcet syndrome (4), anogenital venereal wart (3), acquired immunodeficiency syndrome (3), plantar wart (3), severe acute respiratory syndrome (3), systemic lupus erythematosus (3), bone marrow cancer (3), hypersensitivity reaction type ii disease (3), stomatitis (3), demyelinating disease (3), cryoglobulinemia, familial mixed (3), mouth disease (3), polycythemia vera, somatic (3), eastern equine encephalitis (3), engraftment syndrome (3), gastroenteritis (2), sezary's disease (2), myelofibrosis with myeloid metaplasia, somatic (2), chronic eosinophilic leukemia (2), multiple sclerosis, disease progression, modifier of (2), discoid lupus erythematosus (2), west nile virus (2), multiple myeloma (2), chronic neutrophilic leukemia (2), fasciolopsiasis (2), severe hemophilia a (2), squamous papillomatosis (2), kyasanur forest disease (2), microphthalmia with limb anomalies (2), human immunodeficiency virus infectious disease (1), pseudo-torch syndrome 1 (1), leukocyte disease (1), gastrointestinal system disease (1), colorectal cancer (1), null-cell leukemia (1), aicardi-goutieres syndrome (1), clear cell acanthoma (1), acquired thrombocytopenia (1), lung sarcoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.10 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 0.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.1054-0.094 Picture PostScript Text
3' UTR -35.74239-0.150 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR015589 - Interferon_alpha
IPR000471 - Interferon_alpha/beta/delta

Pfam Domains:
PF00143 - Interferon alpha/beta domain

SCOP Domains:
47266 - 4-helical cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3UX9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P01562
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005126 cytokine receptor binding
GO:0005132 type I interferon receptor binding

Biological Process:
GO:0002250 adaptive immune response
GO:0002286 T cell activation involved in immune response
GO:0002323 natural killer cell activation involved in immune response
GO:0006952 defense response
GO:0006959 humoral immune response
GO:0007596 blood coagulation
GO:0010469 regulation of receptor activity
GO:0019221 cytokine-mediated signaling pathway
GO:0030183 B cell differentiation
GO:0033141 positive regulation of peptidyl-serine phosphorylation of STAT protein
GO:0042100 B cell proliferation
GO:0043330 response to exogenous dsRNA
GO:0045087 innate immune response
GO:0051607 defense response to virus
GO:0060337 type I interferon signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  AB578886 - Homo sapiens IFNA1 mRNA for interferon-alpha1, complete cds.
E00046 - DNA coding of LeIF D.
V00538 - Messenger RNA for human leukocyte (alpha) interferon.
V00537 - Messenger RNA for a human leukocyte (alpha) interferon.
JD499912 - Sequence 480936 from Patent EP1572962.
JD513681 - Sequence 494705 from Patent EP1572962.
BC112300 - Homo sapiens interferon, alpha 1, mRNA (cDNA clone MGC:138505 IMAGE:8327768), complete cds.
BC112302 - Homo sapiens interferon, alpha 1, mRNA (cDNA clone MGC:138507 IMAGE:8327770), complete cds.
BC074928 - Homo sapiens interferon, alpha 1, mRNA (cDNA clone MGC:104042 IMAGE:30915487), complete cds.
BC074929 - Homo sapiens interferon, alpha 1, mRNA (cDNA clone MGC:103881 IMAGE:30915263), complete cds.
AB464595 - Synthetic construct DNA, clone: pF1KB9785, Homo sapiens IFNA13 gene for interferon, alpha 13, without stop codon, in Flexi system.
HQ258738 - Synthetic construct Homo sapiens clone IMAGE:100072768 interferon, alpha 1 (IFNA1) gene, encodes complete protein.
KJ891427 - Synthetic construct Homo sapiens clone ccsbBroadEn_00821 IFNA1 gene, encodes complete protein.
CU686802 - Synthetic construct Homo sapiens gateway clone IMAGE:100022569 5' read IFNA13 mRNA.
HQ448423 - Synthetic construct Homo sapiens clone IMAGE:100071851; CCSB013830_01 interferon, alpha 13 (IFNA13) gene, encodes complete protein.
KJ897036 - Synthetic construct Homo sapiens clone ccsbBroadEn_06430 IFNA13 gene, encodes complete protein.
JN848523 - Homo sapiens interferon alpha 1 mRNA, complete cds.
JD042398 - Sequence 23422 from Patent EP1572962.
JD100652 - Sequence 81676 from Patent EP1572962.
JD427615 - Sequence 408639 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04140 - Regulation of autophagy
hsa04612 - Antigen processing and presentation
hsa04620 - Toll-like receptor signaling pathway
hsa04622 - RIG-I-like receptor signaling pathway
hsa04623 - Cytosolic DNA-sensing pathway
hsa04630 - Jak-STAT signaling pathway
hsa04650 - Natural killer cell mediated cytotoxicity
hsa05320 - Autoimmune thyroid disease

BioCarta from NCI Cancer Genome Anatomy Project
h_inflamPathway - Cytokines and Inflammatory Response
h_il1rPathway - Signal transduction through IL1R
h_cytokinePathway - Cytokine Network
h_dcPathway - Dendritic cells in regulating TH1 and TH2 Development
h_ifnaPathway - IFN alpha signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P01562 (Reactome details) participates in the following event(s):

R-HSA-909720 IFN alpha/beta binds to IFNAR2
R-HSA-909732 Phosphorylation of STAT2
R-HSA-909719 Recruitment of STAT2 to p-IFNAR1
R-HSA-909726 Phosphorylation of STAT1
R-HSA-909722 Release of p-STAT2:p-STAT1 dimer
R-HSA-997309 Dephosphorylation of STAT1 by SHP2
R-HSA-909724 Recruitment of IFNAR1
R-HSA-909730 Phosphorylation of INFAR1 by TYK2
R-HSA-997311 Dephosphorylation of TYK2 by PTP1B
R-HSA-909729 Activation of JAK kinases
R-HSA-912680 Inhibition of JAK kinase activity by SOCS1/3
R-HSA-997314 Dephosphorylation of JAK1 by SHP1
R-HSA-909718 Formation of p-STAT1 homodimer
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-933541 TRAF6 mediated IRF7 activation
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-912694 Regulation of IFNA signaling
R-HSA-913531 Interferon Signaling
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-109582 Hemostasis
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: D4Q9M8, IFNA13, IFNA1_HUMAN, NM_024013, NP_076918, P01562, Q14605, Q2M1L8, Q52LB8, Q5VYQ2, Q7M4Q1, Q8WZ68, Q9UMJ3
UCSC ID: uc003zpd.2
RefSeq Accession: NM_024013
Protein: P01562 (aka IFNA1_HUMAN)
CCDS: CCDS6508.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024013.2
exon count: 1CDS single in 3' UTR: no RNA size: 863
ORF size: 570CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1340.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.