基因總覽
signal transducer and activator of transcription 1 是由 STAT1 基因編碼的蛋白質，屬於 STAT transcription factor family。其基本角色是把細胞外的干擾素、細胞激素及部分生長因子訊號，連結到細胞核內的轉錄調控。STAT1 可依刺激及磷酸化狀態形成不同分子組合，因此能參與多種訊號反應；其作用不僅限於單一類型的細胞激素。蛋白質具 SH2 domain，位於胺基酸 573 至 670 的區段，是其已註解的結構域之一。
基因異名與舊稱
異名取自 HGNC，可能包含歷史名稱；蛋白質名稱以 UniProt 註解為準。
染色體位置與基因結構
查看實際轉錄本與 exon 註解
| Transcript | Genomic coordinates | Exons |
|---|---|---|
| ENST00000361099 ★ | 190,969,149–191,014,171 | 25 |
| ENST00000673816 | 190,908,460–191,014,231 | 25 |
| ENST00000673847 | 190,944,703–191,014,231 | 25 |
| ENST00001112429 | 190,944,743–191,014,231 | 26 |
| ENST00000950377 | 190,965,464–191,014,231 | 25 |
| ENST00000698141 | 190,967,861–191,014,179 | 26 |
| ENST00000698142 | 190,968,694–191,014,231 | 24 |
| ENST00000856927 | 190,969,149–191,014,231 | 25 |
| ENST00000922629 | 190,969,149–191,014,231 | 25 |
| ENST00000950378 | 190,969,149–191,014,202 | 25 |
| ENST00001145300 | 190,969,149–191,014,231 | 25 |
| ENST00000540176 | 190,969,151–191,014,231 | 24 |
顯示 12/34 個蛋白質編碼轉錄本；canonical 優先。
帶型與著絲點依 Ensembl 座標繪製；核染色體長度以 GRCh38 第 1 號染色體為共同尺度。黃色標記表示本基因位置，細小區間加粗以利辨識；實際基因長度與 exon 見下方資料。
分子功能與生物學過程
STAT1 是干擾素訊號的重要轉錄調控因子。第一型干擾素 IFN-alpha 或 IFN-beta 與細胞表面受體結合後，訊號促使 TYK2 與 JAK1 活化，並使 STAT1 和 STAT2 酪胺酸磷酸化。磷酸化的兩者形成異源二聚體，再與 ISGF3G/IRF-9 結合，構成 ISGF3 transcription factor。此複合體進入細胞核後辨識 IFN stimulated response element（ISRE），促進干擾素刺激基因的轉錄，推動細胞進入抗病毒狀態。
第二型干擾素 IFN-gamma 刺激時，STAT1 會在酪胺酸及絲胺酸位置磷酸化，之後形成同源二聚體 IFN-gamma-activated factor（GAF）。GAF 移入細胞核並結合 IFN gamma activated sequence（GAS），調控目標基因表現，同樣可誘導細胞的抗病毒狀態。這些不同的二聚體與 DNA 序列辨識方式，使 STAT1 能依干擾素類型調整轉錄反應。
STAT1 也會回應 KITLG/SCF 與 KIT 訊號；來源指出，它可能介導活化型 FGFR1、FGFR2、FGFR3 及 FGFR4 所引發的細胞反應。細菌脂多醣（LPS）誘導 TLR4 內吞後，IKBKB 可使 STAT1 的 Thr-749 磷酸化，促進其結合 ARID5A promoter 中的特定序列，啟動 ARID5A 轉錄；後續 ARID5A 可穩定 IL6。Thr-749 磷酸化也促進 STAT1 結合 IL12B promoter 的序列並活化 IL12B 轉錄。
在小腸食物耐受方面，STAT1 與 Gasdermin-D 的 p13 裂解產物（13 kDa GSDMD）相關聯，並促進 CIITA 轉錄，進而誘導上段小腸的 type 1 regulatory T（Tr1）細胞；此項功能註記為相似性推論。這些作用顯示 STAT1 會依不同上游刺激調節免疫相關基因，但各路徑的啟動條件與轉錄目標並不相同。
Promoter 與基因調控
>STAT1 ENST00000361099 GRCh38 chr2:191014071-191015171 strand=-1 5′→3′ 相對 TSS：-1000 到 +100 bp；1101 bp 依轉錄本 TSS 擷取的基因組序列；TSS = 0，兩端包含，未驗證為 promoter CTACTGCAGAAGGAGGCAGCAGAAGAGATGGAGCAGAGTAAATGAGACTTGGGAAATATTTAGGAGGAAG AATCAATTAAGATTTGAGGATCAGGTGTTGCGAGGTGAGGGAGAAGGCAATGTCAACTATGAATCCTAGG TATCTGTCATGTGCCATTTCTAGAAAAAGAGCAGGTTTGAGGAGAAAGATGTTTGGTTCTGAACATAGTT TGTAGAGCTCACTGCACATACAAGTGGAGAGGCAAGTGGGAGTTGTAGGTGTGAAGCCCAGAGGAGAGGT GTGGACGGGATAAGCATTTAAGACTCCTCCATCTAGAAGGAAACTGAAGCTGTGGGTGAGGTCATCACAG CACAGCGTTTAGGAGAAGCCCAGGTAAAGAAGCTGACGAATGTCTGGACCCTGACAACCTTAACATATAA TGGTTTGATAGTGGAGGTGGAGGCAATGTAGAAAGAATGCCAGAGGCAGGAAAAAGCAAGAAGGATGTGT TATCATCATGACCAAGGAAGAAACGTGTTTCAAGAACAAAGGCGTCAACTCTGCCCCATGCTTCCGAGCT GTCAAGTAAAGTGAGAAAAACAGAAAAGCGTTCCCTGGGTTTAGCAACACGGAGGTCAGTTGCTAAAGGG AGCTTCTAGAATGACGACGTCGCCAAATCTGTCCTCTGCCTGGATTCTCGGCGATGAAACTACTACAGAG ACCTCCAAGTTTGGGCTTCTGCAAACACAGCACGTCCTTCTGATCGTTCTCTAAGATATGTAAACAGAAC GCCAGTTCCCAGCGTGGCAACACGGGACTGGGCTGCAGCTCACCCAGCCGGCGGCCCCCGCCGGAAGCCG GCGGAAATACCCCAGCGCGTGGGCGGAGCAGCGGCCCGCAGAGGGAGGCGGTGGCGCCCACGGAACAGCC GCGTCTAATTGGCTGAGCGCGGAGCCGCCCGGTGATTGGTGGGGGCGGAAGGGGGCCGGGCGCCAGCGCT GCCTTTTCTCCTGCCGGGTAGTTTCGCTTTCCTGCGCAGAGTCTGCGGAGGGGCTCGGCTGCACCGGGGG GATCGCGCCTGGCAGACCCCAGACCGAGCAGAGGCGACCCAGCGCGCTCGG
EPDnew 實驗支持 promoter／TSS · 2 筆
| EPDnew ID | TSS（1-based） | 股向 | 來源顯示區間 |
|---|---|---|---|
| STAT1_1 ↗ | 2:191,014,171 | 負股 | 191,014,161–191,014,220 |
| STAT1_2 ↗ | 2:191,021,018 | 負股 | 191,021,008–191,021,067 |
EPDnew human v006 · UCSC hg38，GRCh38/hg38，透過 UCSC 取得。TSS 具有 CAGE／RAMPAGE 等實驗資料支持；任意擷取的上下游區間仍需另行判讀調控功能，不能視為整段皆經功能驗證。
EPD 封存狀態 ↗ · UCSC 資料說明 ↗ · EPD team, SIB Swiss Institute of Bioinformatics; UCSC Genome Browser · CC BY 4.0
查看已取得的調控／motif 註解
ENSR2_87LM23 · enhancer · 191009636–191009851 · regulatory
ENSR2_CNXQJ · enhancer · 191012905–191013944 · regulatory
ENSR2_53MX3MW · CTCF_binding_site · 191013522–191013543 · regulatory
ENSR2_53MX3NZ · CTCF_binding_site · 191013750–191013771 · regulatory
ENSR2_B3DWJ6 · promoter · 191013945–191014721 · regulatory
ENSR2_87LM5C · enhancer · 191015342–191015578 · regulatory
· motif · 191009672–191009680 · motif
· motif · 191009720–191009728 · motif
· motif · 191011097–191011112 · motif
· motif · 191011097–191011112 · motif
· motif · 191013220–191013229 · motif
· motif · 191013220–191013229 · motif
· motif · 191013524–191013540 · motif
· motif · 191013752–191013768 · motif
· motif · 191014005–191014018 · motif
· motif · 191014029–191014040 · motif
· motif · 191014042–191014055 · motif
· motif · 191014093–191014108 · motif
· motif · 191014153–191014173 · motif
· motif · 191014159–191014173 · motif
· motif · 191014201–191014211 · motif
· motif · 191014213–191014226 · motif
· motif · 191014266–191014279 · motif
· motif · 191014303–191014313 · motif
· motif · 191014305–191014318 · motif
· motif · 191014307–191014318 · motif
· motif · 191014333–191014342 · motif
· motif · 191014592–191014604 · motif
· motif · 191014653–191014662 · motif
· motif · 191014825–191014838 · motif
· motif · 191014825–191014838 · motif
· motif · 191014904–191014916 · motif
· motif · 191014985–191014996 · motif
· motif · 191015039–191015052 · motif
· motif · 191015430–191015438 · motif
· motif · 191018780–191018797 · motif
蛋白質結構域與序列
參考蛋白質長度：750 aa
STAT1 蛋白長 750 個胺基酸，屬於 STAT transcription factor family。已註解的 SH2 domain 位於胺基酸 573–670；來源未提供其他結構域或序列功能區的說明。
蛋白質三維結構
細胞內定位
STAT1 可位於細胞質與細胞核。 IFN-gamma 刺激或活化型 FGFR1、FGFR2、FGFR3、FGFR4 訊號可促使其酪胺酸磷酸化並二聚化，隨後移入細胞核；IFN-beta 刺激也會誘導核轉位。 Lys-525 單甲基化是 Tyr-701 磷酸化及核轉位所需條件。
深綠色圓點：來源記載的蛋白質定位；數量不表示含量。
動物細胞結構示意；器官大小與數量不按比例。點選細胞構造可查看定位註解。
交互作用與訊號網絡
拖曳節點後放開可帶動位置變化；點選夥伴查看證據。位置與連線長度不代表結合強度，圖中未推定夥伴彼此之間的關係。
更多交互作用夥伴 · 已取得 27 個夥伴
- DDB1Q16531 · UniProt INTERACTION · 2 experiments
- E2F1Q01094 · UniProt INTERACTION · 2 experiments
- EGFRP00533 · UniProt INTERACTION · 7 experiments
- EIF1ADQ8N9N8 · UniProt INTERACTION · 4 experiments
- ERBB2P04626 · UniProt INTERACTION · 3 experiments
- FOSP01100 · UniProt INTERACTION · 7 experiments
- IFNAR1P17181 · UniProt INTERACTION · 2 experiments
- IFNAR2P48551 · UniProt INTERACTION · 2 experiments
- IFNGR1P15260 · UniProt INTERACTION · 4 experiments
- JAK1P23458 · UniProt INTERACTION · 6 experiments
- KPNA1P52294 · UniProt INTERACTION · 4 experiments
- MAVSQ7Z434 · UniProt INTERACTION · 3 experiments
- OTUD4Q01804 · UniProt INTERACTION · 3 experiments
- PTK2Q05397 · UniProt INTERACTION · 3 experiments
- RIGIO95786 · UniProt INTERACTION · 4 experiments
- RXRAP19793 · UniProt INTERACTION · 2 experiments
- STAT2P52630 · UniProt INTERACTION · 20 experiments
- STAT3P40763 · UniProt INTERACTION · 10 experiments
- NP0DTC9 · UniProt INTERACTION · 6 experiments
- OPG106P07239 · UniProt INTERACTION · 2 experiments
- SP0DTC2 · UniProt INTERACTION · 2 experiments
- UL47Q4VW77 · UniProt INTERACTION · 2 experiments
- P03255-1P03255-1 · UniProt INTERACTION · 2 experiments · 2 筆來源紀錄
- P26664P26664 · UniProt INTERACTION · 5 experiments
- P27958P27958 · UniProt INTERACTION · 2 experiments · 2 筆來源紀錄
STAT1 可依刺激形成同源二聚體，或與 STAT2 形成異源二聚體；STAT1:STAT2 再與 IRF9 組成 ISGF3。它也與 IFNAR1、IFNAR2 及 IFNGR1 互作，其中 IFNAR1 的互作需要其 Tyr-466 磷酸化。另有複合體包含 NMI 與 CREBBP/CBP，且 NMI 參與 CREBBP/CBP 的募集；磷酸化 Ser-727 的 STAT1 與 PIAS1 互作會促使 STAT1 脫離目標基因。感染相關互作則包括多種病毒蛋白；Sendai virus、Nipah virus 與 Rabies virus 蛋白可抑制 ISRE 或 GAS promoter 活化，HCV core protein 互作則導致 STAT1 降解。EBV BGLF2 會導致 STAT1 去磷酸化及抑制；Ebolavirus VP24 亦有互作註記，但未說明其結果。
疾病與遺傳關聯
影響 STAT1 的變異與 Immunodeficiency 31B、31A 及 31C 有關。31B 患者易受嚴重分枝桿菌及病毒感染，可能發生播散性感染或死於病毒疾病。31A 與 IFN-gamma 介導免疫受損相關，主要增加分枝桿菌感染易感性，病情嚴重度不一；此型低外顯率，通常較輕且預後良好，且未增加病毒感染易感性。31C 則與 Candida 感染清除受損相關，常見皮膚、指甲及黏膜持續或反覆感染；STAT1 變異可伴隨 type 1 與 type 17 helper T-cell 反應缺陷，以及 IFN-alpha、interleukin-17 和 interleukin-22 產量降低。
Contextual Functional Evidence Matrix
矩陣以「功能主張」為列，以細胞情境、干預條件、量測結果與證據來源為欄，方便比較同一功能在不同條件下的支持情形。只有含情境與實驗資訊的紀錄會列入矩陣；一般功能註解另列於下方。
功能註解總覽 · 13 筆
| 功能面向 | 功能敘述 | 證據類型 | 可查核來源 |
|---|---|---|---|
| 功能 | STAT1 轉導干擾素、KITLG/SCF、其他細胞激素及部分生長因子訊號。第一型干擾素透過 TYK2、JAK1 促使 STAT1/STAT2 磷酸化並組成 ISGF3；第二型干擾素則促使 STAT1 形成 GAF。兩者進入細胞核後分別辨識 ISRE 或 GAS，調控抗病毒相關基因。此外，STAT1 參與 LPS-TLR4 下游轉錄調控；其小腸食物耐受作用為相似性推論。 | 含實驗來源 | 證據與來源Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated. It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Becomes activated in response to KITLG/SCF and KIT signaling. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Following bacterial lipopolysaccharide (LPS)-induced TLR4 endocytosis, phosphorylated at Thr-749 by IKBKB which promotes binding of STAT1 to the 5'-TTTGAGGC-3' sequence in the ARID5A promoter, resulting in transcriptional activation of ARID5A and subsequent ARID5A-mediated stabilization of IL6. Phosphorylation at Thr-749 also promotes binding of STAT1 to the 5'-TTTGAGTC-3' sequence in the IL12B promoter and activation of IL12B transcription. Involved in food tolerance in small intestine: associates with the Gasdermin-D, p13 cleavage product (13 kDa GSDMD) and promotes transcription of CIITA, inducing type 1 regulatory T (Tr1) cells in upper small intestine (By similarity) PMID 12764129 ↗ · PMID 12855578 ↗ · PMID 15322115 ↗ · PMID 19088846 ↗ · PMID 23940278 ↗ · PMID 26479788 ↗ · PMID 28753426 ↗ · PMID 32209697 ↗ · PMID 32814877 ↗ · PMID 34508746 ↗ · PMID 35568036 ↗ · PMID 8156998 ↗ · PMID 9724754 ↗ · PMID 15526160 ↗ |
| 交互作用 | STAT1 alpha 可在 IFN-gamma 誘導的磷酸化後形成同源二聚體，也可在 IFN-alpha/beta 誘導磷酸化後與 STAT2 異源二聚，並與 IRF9 組成 ISGF3。STAT1 另與 PIAS1、干擾素受體、NMI、CREBBP/CBP 等互作；部分互作有刺激或磷酸化條件，PIAS1 互作則可使 STAT1 脫離目標基因。 | 含實驗來源 | 證據與來源Isoform alpha homodimerizes upon IFN-gamma induced phosphorylation. Heterodimer with STAT2 upon IFN-alpha/beta induced phosphorylation. The heterodimer STAT1:STAT2 forms the interferon-stimulated gene factor 3 complex (ISGF3) with IRF9 (By similarity). Interacts (phosphorylated at Ser-727) with PIAS1; the interaction results in release of STAT1 from its target gene. Interacts with IFNAR1; the interaction requires the phosphorylation of IFNAR1 at 'Tyr-466'. Interacts with IFNAR2. Found in a complex with NMI and CREBBP/CBP. Interacts with NMI which is required for CREBBP/CBP recruitment to the complex. Interacts with PTK2/FAK1. Interacts with SRC (By similarity). Interacts with ERBB4 (phosphorylated). Interacts with PARP9 and DTX3L independently of IFN-beta or IFN-gamma-mediated STAT1 'Tyr-701' phosphorylation. Interacts with histone acetyltransferase EP300/p300 in response to INF-gamma stimulation. Independently of its phosphorylation status, interacts with OTOP1 (By similarity). Interacts with IFNGR1. Interacts with STAT4 PMID 11278462 ↗ · PMID 16257975 ↗ · PMID 17897103 ↗ · PMID 18721752 ↗ · PMID 26479788 ↗ · PMID 28753426 ↗ · PMID 34508746 ↗ · PMID 8156998 ↗ · PMID 8605877 ↗ · PMID 9121453 ↗ · PMID 9724754 ↗ · PMID 9989503 ↗ |
| 交互作用 | 微生物感染情境下，STAT1 與 Sendai virus 的 C'、C、Y1 及 Y2 蛋白互作；此互作會阻止 ISRE 與 GAS promoter 活化。 | 含實驗來源 | 證據與來源(Microbial infection) Interacts with Sendai virus C', C, Y1 and Y2 proteins, preventing activation of ISRE and GAS promoter PMID 11442634 ↗ |
| 交互作用 | 微生物感染情境下，STAT1 與 Nipah virus 的 P、V 及 W 蛋白互作，並因此阻止 ISRE 與 GAS promoter 活化。 | 含實驗來源 | 證據與來源(Microbial infection) Interacts with Nipah virus P, V and W proteins preventing activation of ISRE and GAS promoter PMID 15140960 ↗ |
| 交互作用 | 微生物感染情境下，STAT1 與 Rabies virus phosphoprotein 互作；該互作會阻止 ISRE 與 GAS promoter 活化。 | 含實驗來源 | 證據與來源(Microbial infection) Interacts with Rabies virus phosphoprotein preventing activation of ISRE and GAS promoter PMID 11442634 ↗ · PMID 15140960 ↗ |
| 交互作用 | 微生物感染情境下，STAT1 與 HCV core protein 互作；此互作會導致 STAT1 降解。 | 含實驗來源 | 證據與來源(Microbial infection) Interacts with HCV core protein; the interaction results in STAT1 degradation PMID 15825084 ↗ |
| 交互作用 | 微生物感染情境下，STAT1 與 ebolavirus protein VP24 有互作註記；來源未說明此互作的功能結果。 | 含實驗來源 | |
| 交互作用 | 微生物感染情境下，STAT1 與 Epstein-Barr virus（EBV）tegument protein BGLF2 互作；此互作會造成 STAT1 去磷酸化並抑制其作用。 | 含實驗來源 | 證據與來源(Microbial infection) Interacts with Epstein-Barr virus (EBV) tegument protein BGLF2; this interaction leads to STAT1 dephosphorylation and inhibition PMID 34319780 ↗ |
| 交互作用 | 微生物感染情境下，measles V protein 透過其 N-terminus 與 STAT1 互作。這項互作會抑制 Jak1 對 STAT1 的磷酸化，並進而抑制第一型干擾素訊號路徑。 | 含實驗來源 | 證據與來源(Microbial infection) Interacts (via N-terminus) with measles V protein; this interaction inhibits STAT1 phosphorylation by Jak1 and thereby the type I interferon signaling pathway PMID 17686504 ↗ · PMID 32581091 ↗ |
| 細胞定位 | STAT1 位於細胞質與細胞核。IFN-gamma 或活化型 FGFR1、FGFR2、FGFR3、FGFR4 訊號可促使其酪胺酸磷酸化及二聚化，並移入細胞核；IFN-beta 刺激也會誘導核轉位。Lys-525 單甲基化是 Tyr-701 磷酸化及核轉位所需條件。 | 含實驗來源 | 證據與來源Cytoplasm; Nucleus; Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to IFN-gamma and signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4. Monomethylation at Lys-525 is required for phosphorylation at Tyr-701 and translocation into the nucleus. Translocates into the nucleus in response to interferon-beta stimulation PMID 15322115 ↗ · PMID 26479788 ↗ · PMID 27796300 ↗ · PMID 28753426 ↗ · PMID 32209697 ↗ |
| 疾病關聯 | Immunodeficiency 31B 是與 STAT1 相關變異有關的免疫缺陷，患者易受嚴重分枝桿菌及病毒感染，可能出現播散性感染，也可能死於病毒疾病。來源將此病描述為由影響該基因的變異所致。 | 含實驗來源 | 證據與來源Immunodeficiency 31B IMD31B A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness. The disease is caused by variants affecting the gene represented in this entry MIM: 613796 PMID 12590259 ↗ · PMID 20841510 ↗ · PMID 23709754 ↗ |
| 疾病關聯 | Immunodeficiency 31A 是 IFN-gamma 介導免疫受損相關的孟德爾型分枝桿菌易感疾病，主要增加對分枝桿菌感染的易感性，不增加病毒感染風險。外顯率低且通常較輕、預後良好，但臨床嚴重度不一，並與免疫功能受損程度相關；疾病與影響 STAT1 的變異有關。 | 含實驗來源 | 證據與來源Immunodeficiency 31A IMD31A A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. The disease is caused by variants affecting the gene represented in this entry MIM: 614892 PMID 11452125 ↗ · PMID 16934001 ↗ · PMID 22573496 ↗ |
| 疾病關聯 | Immunodeficiency 31C 是以 Candida 感染清除受損為特徵的原發性免疫缺陷，可造成皮膚、指甲及黏膜持續或反覆感染，主要病原包括 Candida albicans。來源指出，STAT1 變異與 type 1、type 17 helper T-cell 反應缺陷及 IFN-alpha、interleukin-17、interleukin-22 產量降低有關，這些細胞激素參與皮膚與黏膜抗真菌防禦。 | 含實驗來源 | 證據與來源Immunodeficiency 31C IMD31C A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. The disease is caused by variants affecting the gene represented in this entry. STAT1 mutations in patients with autosomal dominant candidiasis lead to defective responses of type 1 and type 17 helper T-cells, characterized by reduced production of interferon-alpha, interleukin-17, and interleukin-22. These cytokines are crucial for the antifungal defense of skin and mucosa MIM: 614162 PMID 21714643 ↗ · PMID 21727188 ↗ · PMID 23709754 ↗ · PMID 25288569 ↗ · PMID 26514428 ↗ |
核酸與蛋白質序列
GTTTCGCTTTCCTGCGCAGAGTCTGCGGAGGGGCTCGGCT40GCACCGGGGGGATCGCGCCTGGCAGACCCCAGACCGAGCA80GAGGCGACCCAGCGCGCTCGGGAGAGGCTGCACCGCCGCG120CCCCCGCCTAGCCCTTCCGGATCCTGCGCGCAGAAAAGTT160TCATTTGCTGTATGCCATCCTCGAGAGCTGTCTAGGTTAA200CGTTCGCACTCTGTGTATATAACCTCGACAGTCTTGGCAC240CTAACGTGCTGTGCGTAGCTGCTCCTTTGGTTGAATCCCC280AGGCCCTTGTTGGGGCACAAGGTGGCAGGATGTCTCAGTG320GTACGAACTTCAGCAGCTTGACTCAAAATTCCTGGAGCAG360GTTCACCAGCTTTATGATGACAGTTTTCCCATGGAAATCA400GACAGTACCTGGCACAGTGGTTAGAAAAGCAAGACTGGGA440GCACGCTGCCAATGATGTTTCATTTGCCACCATCCGTTTT480CATGACCTCCTGTCACAGCTGGATGATCAATATAGTCGCT520TTTCTTTGGAGAATAACTTCTTGCTACAGCATAACATAAG560GAAAAGCAAGCGTAATCTTCAGGATAATTTTCAGGAAGAC600CCAATCCAGATGTCTATGATCATTTACAGCTGTCTGAAGG640AAGAAAGGAAAATTCTGGAAAACGCCCAGAGATTTAATCA680GGCTCAGTCGGGGAATATTCAGAGCACAGTGATGTTAGAC720AAACAGAAAGAGCTTGACAGTAAAGTCAGAAATGTGAAGG760ACAAGGTTATGTGTATAGAGCATGAAATCAAGAGCCTGGA800AGATTTACAAGATGAATATGACTTCAAATGCAAAACCTTG840CAGAACAGAGAACACGAGACCAATGGTGTGGCAAAGAGTG880ATCAGAAACAAGAACAGCTGTTACTCAAGAAGATGTATTT920AATGCTTGACAATAAGAGAAAGGAAGTAGTTCACAAAATA960cDNA 使用 DNA 字母 T；mRNA 模式改以 U 顯示。轉錄本保留已註解的非編碼區，未另外加入 poly(A) 尾；非編碼 RNA 的參考轉錄本也可能仍需後續加工。數字為所選序列的 1-based 位置。長序列以黃色捲軸瀏覽，可複製或下載完整轉錄本與蛋白質；基因組 DNA 隨捲動取得所需範圍。