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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
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)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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.
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
Other Names for This Gene
Alternate Gene Symbols: AK225853UCSC ID: uc010fsf.1RefSeq Accession: NM_139266
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AK225853.1
exon count:
18 CDS single in 3' UTR:
no
RNA size:
2604
ORF size:
1068 CDS single in intron:
no
Alignment % ID:
99.92
txCdsPredict score:
1801.00 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.