RBCC Red Blood Cell Collection

STAT3_HUMAN

Source: PM19886704
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: STAT3 , APRF
Protein names and data: STAT3_HUMAN , Signal transducer and activator of transcription 3 , Acute-phase response factor Lenght: 770 a.a.
Mass: 88068 Da
fasta formatted sequence
Function: Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF and other growth factors. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the interleukin-6 (IL-6)- responsive elements identified in the promoters of various acute- phase protein genes. Activated by IL31 through IL31RA. Cytoplasmic STAT3 represses macroautophagy by inhibiting EIF2AK2/PKR activity. Plays an important role in host defense in methicillin-resistant S.aureus lung infection by regulating the expression of the antimicrobial lectin REG3G (By similarity).
Disease: ( OMIM: 102582 147060 ) Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) [MIM:147060]: A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eczema, recurrent Staphylococcal infections, increased serum IgE, eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4. Constitutive nuclear presence is independent of tyrosine phosphorylation. Predominantly present in the cytoplasm without stimuli. Upon leukemia inhibitory factor (LIF) stimulation, accumulates in the nucleus. The complex composed of BART and ARL2 plays an important role in the nuclear translocation and retention of STAT3. Identified in a complex with LYN and PAG1.
Tissue specificity: Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Genetic variants

32 - 32 Q -> K (in dbSNP:rs1803125). VAR_018683 1803125
143 - 143 M -> I (in dbSNP:rs17878478). VAR_018679 17878478
382 - 382 R -> L (in AD-HIES). VAR_037365
382 - 382 R -> Q (in AD-HIES; loss of function). VAR_037366
382 - 382 R -> W (in AD-HIES; loss of function). VAR_037367
384 - 384 F -> L (in AD-HIES). VAR_037368
384 - 384 F -> S (in AD-HIES). VAR_037369
389 - 389 T -> I (in AD-HIES; loss of function). VAR_037370
423 - 423 R -> Q (in AD-HIES). VAR_037371
437 - 437 H -> Y (in AD-HIES; loss of function). VAR_037372
463 - 463 Missing (in AD-HIES; loss of function). VAR_037373
561 - 561 F -> Y (in dbSNP:rs1064116). VAR_037374 1064116
611 - 611 S -> N (in AD-HIES). VAR_037375
621 - 621 F -> V (in AD-HIES). VAR_037376
622 - 622 T -> I (in AD-HIES). VAR_037377
637 - 637 V -> L (in AD-HIES). VAR_037378
637 - 637 V -> M (in AD-HIES). VAR_037379
644 - 644 Missing (in AD-HIES). VAR_037380
657 - 657 Y -> C (in AD-HIES). VAR_037381

Database cross-references

UniProt: P40763
Ensembl: ENST00000264657
Ensembl: ENST00000404395
Ensembl: ENST00000588969
MIM: 102582
MIM: 147060
neXtProt: NX_P40763
Antibodypedia: P40763 (may not find the protein thus also not any antibody)
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