Human Gene STAT1 (uc010fsf.1)
  Description: Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant beta, mRNA.
RefSeq Summary (NM_139266): The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020].
Transcript (Including UTRs)
   Position: hg19 chr2:191,845,346-191,878,976 Size: 33,631 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr2:191,845,346-191,864,420 Size: 19,075 Coding Exon Count: 12 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:191,845,346-191,878,976)mRNA (may differ from genome)Protein (356 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMalacardsMGIPubMedTreefam
Wikipedia

-  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): STAT1
CDC HuGE Published Literature: STAT1

-  MalaCards Disease Associations
  MalaCards Gene Search: STAT1
Diseases sorted by gene-association score: immunodeficiency 31c, autosomal dominant* (1550), immunodeficiency 31a, mycobacteriosis, autosomal dominant* (1550), immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive* (1550), familial atypical mycobacteriosis, stat1-related* (100), mumps (24), rabies (18), candidiasis (16), thanatophoric dysplasia, type i (14), tuberculosis (13), human t-cell leukemia virus type 2 (13), fanconi anemia, complementation group c (10), thanatophoric dysplasia, type ii (10), hepatitis c (10), chronic mucocutaneous candidiasis (10), measles (9), coccidioidomycosis (9), infectious anterior uveitis (9), zika fever (8), progressive multifocal leukoencephalopathy (8), venezuelan equine encephalitis (8), campylobacteriosis (8), mouth disease (8), chronic inflammatory demyelinating polyradiculoneuropathy (7), dengue hemorrhagic fever (7), salmonellosis (6), testicular leukemia (6), ulceroglandular tularemia (6), skin squamous cell carcinoma (6), microphthalmia with limb anomalies (6), acute myocarditis (6), severe acute respiratory syndrome (6), polyradiculoneuropathy (5), japanese encephalitis (5), cd3gamma deficiency (5), norwegian scabies (5), opportunistic mycosis (5), central nervous system tuberculosis (5), yellow fever (5), inflammatory bowel disease (5), erythrocytosis, somatic (4), hepatitis b (4), breast cancer (3), uv-sensitive syndrome (3), viral infectious disease (2), chronic lymphocytic leukemia (2), colorectal cancer (1), leukemia, acute promyelocytic, somatic (1), fanconi anemia, complementation group a (1)
* = Manually curated disease association

-  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: 222.49 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1033.21 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 -315.70860-0.367 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.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  M97935 - Homo sapiens transcription factor ISGF-3 mRNA, complete cds.
FW340019 - Screening.
HH934437 - Sequence 105 from Patent WO2010111471.
HV964655 - JP 2012521763-A/105: RNA Interference Mediated Inhibition of Signal Transducer and Activator of Transcription 1 (STAT1) Gene Expression Using Short Interfering Nucleic Acid (siNA).
CR749636 - Homo sapiens mRNA; cDNA DKFZp686B04100 (from clone DKFZp686B04100).
AK292604 - Homo sapiens cDNA FLJ78299 complete cds, highly similar to Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.
GU211347 - Homo sapiens signal transducer and activator of transcription 1 (STAT1) mRNA, complete cds.
GU211348 - Homo sapiens truncated signal transducer and activator of transcription 1 (STAT1) mRNA, complete cds, alternatively spliced.
AK315002 - Homo sapiens cDNA, FLJ95929, Homo sapiens signal transducer and activator of transcription 1,91kDa (STAT1), transcript variant alpha, mRNA.
AB384835 - Synthetic construct DNA, clone: pF1KB3682, Homo sapiens STAT1 gene for signal transducer and activator of transcription 1-alpha/beta, complete cds, without stop codon, in Flexi system.
M97936 - Human transcription factor ISGF-3 mRNA sequence.
AK225853 - Homo sapiens mRNA for signal transducer and activator of transcription 1 isoform alpha variant, clone: FCC125G04.
BC002704 - Homo sapiens signal transducer and activator of transcription 1, 91kDa, mRNA (cDNA clone MGC:3493 IMAGE:3627218), complete cds.
AK096686 - Homo sapiens cDNA FLJ39367 fis, clone PEBLM2006709, highly similar to SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1-ALPHA/BETA.
BT007241 - Homo sapiens signal transducer and activator of transcription 1, 91kDa mRNA, complete cds.
KJ892213 - Synthetic construct Homo sapiens clone ccsbBroadEn_01607 STAT1 gene, encodes complete protein.
KR709939 - Synthetic construct Homo sapiens clone CCSBHm_00007942 STAT1 (STAT1) mRNA, encodes complete protein.
KR709940 - Synthetic construct Homo sapiens clone CCSBHm_00007943 STAT1 (STAT1) mRNA, encodes complete protein.
KR709941 - Synthetic construct Homo sapiens clone CCSBHm_00007944 STAT1 (STAT1) mRNA, encodes complete protein.
KR709942 - Synthetic construct Homo sapiens clone CCSBHm_00007945 STAT1 (STAT1) mRNA, encodes complete protein.
EU831980 - Synthetic construct Homo sapiens clone HAIB:100067009; DKFZo008G0923 signal transducer and activator of transcription 1, 91kDa protein (STAT1) gene, encodes complete protein.
EU832073 - Synthetic construct Homo sapiens clone HAIB:100067102; DKFZo004G0924 signal transducer and activator of transcription 1, 91kDa protein (STAT1) gene, encodes complete protein.
CU678136 - Synthetic construct Homo sapiens gateway clone IMAGE:100017777 5' read STAT1 mRNA.
BC141921 - Homo sapiens cDNA clone IMAGE:40131546, partial cds.
JD482869 - Sequence 463893 from Patent EP1572962.
JD475964 - Sequence 456988 from Patent EP1572962.
MF281503 - Homo sapiens miAB12_pre miRNA, complete sequence.
MF281465 - Homo sapiens miAB12 miRNA, complete sequence.
JD400813 - Sequence 381837 from Patent EP1572962.
JD485423 - Sequence 466447 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04062 - Chemokine signaling pathway
hsa04620 - Toll-like receptor signaling pathway
hsa04630 - Jak-STAT signaling pathway
hsa05140 - Leishmaniasis
hsa05200 - Pathways in cancer
hsa05212 - Pancreatic cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_gleevecpathway - Inhibition of Cellular Proliferation by Gleevec
h_ifnaPathway - IFN alpha signaling pathway
h_p38mapkPathway - p38 MAPK Signaling Pathway
h_biopeptidesPathway - Bioactive Peptide Induced Signaling Pathway
h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage
h_il22bppathway - IL22 Soluble Receptor Signaling Pathway
h_TPOPathway - TPO Signaling Pathway
h_egfPathway - EGF Signaling Pathway
h_mapkPathway - MAPKinase Signaling Pathway
h_pdgfPathway - PDGF Signaling Pathway
h_ifngPathway - IFN gamma signaling pathway
h_il10Pathway - IL-10 Anti-inflammatory Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AK225853
UCSC ID: uc010fsf.1
RefSeq Accession: NM_139266

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK225853.1
exon count: 18CDS single in 3' UTR: no RNA size: 2604
ORF size: 1068CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 1801.00frame shift in genome: no % Coverage: 73.20
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.