基因總覽
ELOVL fatty acid elongase 4 是一種蛋白質編碼基因，其產物屬於 ELO 家族的 ELOVL4 subfamily。蛋白質位於內質網膜，具有多個跨膜區段，並含有一段預測為無序的區域及 C 端 Di-lysine motif。這些特徵構成其膜結合酵素的基本架構。
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 |
|---|---|---|
| ENST00000369816 ★ | 79,914,814–79,947,553 | 6 |
| ENST00001079967 | 79,913,808–79,947,578 | 5 |
| ENST00001136200 | 79,913,808–79,947,578 | 6 |
| ENST00001079966 | 79,914,822–79,947,578 | 7 |
顯示 4/4 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
ELOVL4 是脂肪酸延長循環中的縮合酵素，催化四步反應中的第一步，也是速率限制步驟。此酵素反應發生於內質網相關的延長過程，每一循環可使長鏈或超長鏈脂肪酸增加兩個碳原子。其功能涉及脂質代謝與脂肪酸生合成，產物包括超長鏈飽和脂肪酸及多元不飽和脂肪酸。
反應以脂醯輔酶 A 與 malonyl-CoA 為底物，生成碳鏈延長兩個碳、帶有 3-oxo 基團的脂醯輔酶 A，同時釋出 CO2 與 CoA。來源列出的反應涵蓋不同鏈長的飽和脂肪酸底物，也涵蓋具有多個雙鍵的多元不飽和脂肪酸；這些例子反映其參與多種超長鏈脂肪酸延長反應，而非只作用於單一脂肪酸種類。
ELOVL4 所合成的超長鏈飽和脂肪酸與多元不飽和脂肪酸，可作為膜脂質及脂質介質的前驅物，因而參與多種生物過程。來源也指出，ELOVL4 可能對早期腦部與皮膚發育具有重要作用；此處描述的是可能的生物學意義，未進一步界定其作用機制。
Promoter 與基因調控
>ELOVL4 ENST00000369816 GRCh38 chr6:79947453-79948553 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 ATGAGCAAGTGGAGAAAAGGTTAAACAAGTAGGTGACACATTTAAAAAACAAGTAGATGAAAGGACTATT CTCAAAAATCTTGTTTTATGTGAGAAACCATCAAATTATGAATTCCAAGTACTGTATTTTTTTTACTTTT CAAGGGTAGGCTCTCCTATACCTTATCTAAACAATTTTTCAAAATAGCCACAATTACTTTGTTTTCCTCT CTACACTAAATTGCCCTTTGCCTCTTGAGCGATTATCTTTTTCAGATTCACCTCAACTTCTTCAGGTTCA AGCGGACTTCACCTGTAAGCCCCTCTCGGTTCTCCCTCTTCTCTGAACTACTAATGGCCTAATTTAGCAC AATTATATTGCTTTGTTCATTCCATGTATAGTAAAAGAGTCTACAAAACACATGCAAGCATTCATGCAAT TATATGTTGATTTGTTCATGGGTCGACCCCAAAGTCTATTCTCCATCGCTGAAGCATGGAAGACAAATAC CCTTCACTTCTTCAGAGGCATAACACATGCACTTCTCTTGTCATGGTGACAGGCATGTGCTGGTGGAGGT CAAAGAAACAGGAACACAAGTGAAATCGAGGTGAGTGTCAGGTAAGGACCAAAGCACCACGCCTACCTCA TCTTTGCCCACAGAACACCCATTCTTCCCGTGTCCTGTTTCCCAGGACGTATCCGGGGCGGATAAGAAAT CACCCGTGGGGAGGCGGTGAACTCCTCCGCAGGGGCCGATGCCCGGGACAGGGGCGGGGAAGGCTAATGA GGCGACTTGTGCGGGGAGGGGCCAAGGAGGAGCCCAGGTGTCCCGCTCCCGCTCGACGGCGCGCGCCTGC GCGAGCCCAGTTGGCGTCGCACCCTTGAGCGCAGCATCCCTACGCCAGCGAGTCCCAATACTAGGGAGGG AGGGAGGGAGGAGGGGCGGCCGGCCCCCCGCCCCCGCGCGCGGCCACGTGACGCCGGCTGAGGAGATTGG AGGGGCGGCTGCGCGAGGCTGCAGACTGGTGCAGCGCACTGTGCTGGCGGCTGGGCCTCCTCCACCTCCT CGTCTTTCTCCCGGGAACCTTGACGACGCCTTCCGCTTGGCCCTGCCTTCT
EPDnew 實驗支持 promoter／TSS · 1 筆
| EPDnew ID | TSS（1-based） | 股向 | 來源顯示區間 |
|---|---|---|---|
| ELOVL4_1 ↗ | 6:79,947,551 | 負股 | 79,947,541–79,947,600 |
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
ENSR6_76NX25 · enhancer · 79945110–79945231 · regulatory
ENSR6_C9X77 · enhancer · 79946320–79947542 · regulatory
ENSR6_5NRP8G · CTCF_binding_site · 79946439–79946460 · regulatory
ENSR6_936PR2 · promoter · 79947543–79947820 · regulatory
ENSR6_5NRPGD · CTCF_binding_site · 79947719–79947740 · regulatory
ENSR6_936PR4 · enhancer · 79947821–79948214 · regulatory
ENSR6_5NRPL3 · CTCF_binding_site · 79948512–79948533 · regulatory
ENSR6_BKTDQ · enhancer · 79949078–79949639 · regulatory
ENSR6_5NRPPQ · CTCF_binding_site · 79949317–79949338 · regulatory
· motif · 79946441–79946457 · motif
· motif · 79947592–79947601 · motif
· motif · 79947592–79947601 · motif
· motif · 79947604–79947617 · motif
· motif · 79947711–79947722 · motif
· motif · 79947711–79947722 · motif
· motif · 79947721–79947737 · motif
· motif · 79947729–79947742 · motif
· motif · 79948514–79948530 · motif
· motif · 79949319–79949335 · motif
· motif · 79949379–79949389 · motif
蛋白質結構域與序列
參考蛋白質長度：314 aa
ELOVL4 蛋白質長 314 個胺基酸，屬於 ELO 家族的 ELOVL4 subfamily。序列註解標示七段螺旋跨膜區，另有一段預測為無序的區域，以及位於末端的 Di-lysine motif。
蛋白質三維結構
細胞內定位
ELOVL4 是多次跨膜蛋白，定位於內質網膜。 來源未提供定位改變的條件或異構型差異。
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 92 個夥伴
- ADGRE2Q9UHX3 · UniProt INTERACTION · 3 experiments
- ANKRD46Q86W74-2 · UniProt INTERACTION · 3 experiments
- APOL3O95236-2 · UniProt INTERACTION · 3 experiments
- ATP13A1Q9HD20-3 · UniProt INTERACTION · 3 experiments
- BCL2L1Q07817 · UniProt INTERACTION · 3 experiments
- BET1O15155 · UniProt INTERACTION · 3 experiments
- BIKQ13323 · UniProt INTERACTION · 3 experiments
- BNIP1Q12981 · UniProt INTERACTION · 3 experiments
- BNIP3Q12983 · UniProt INTERACTION · 3 experiments
- BTN2A2Q8WVV5 · UniProt INTERACTION · 3 experiments
- CCDC167Q9P0B6 · UniProt INTERACTION · 3 experiments
- CCL4L2Q8NHW4 · UniProt INTERACTION · 3 experiments
- CD70P32970 · UniProt INTERACTION · 3 experiments
- CLDND2Q8NHS1 · UniProt INTERACTION · 3 experiments
- CMTM3Q96MX0 · UniProt INTERACTION · 3 experiments
- CMTM5Q96DZ9-2 · UniProt INTERACTION · 3 experiments
- CMTM7Q96FZ5 · UniProt INTERACTION · 3 experiments
- COL4A5P29400-2 · UniProt INTERACTION · 3 experiments
- CYB5R3P00387 · UniProt INTERACTION · 3 experiments
- CYP4F2P78329 · UniProt INTERACTION · 3 experiments
- ERG28Q9UKR5 · UniProt INTERACTION · 3 experiments
- FA2HQ7L5A8 · UniProt INTERACTION · 3 experiments
- FAM177A1Q8N128-2 · UniProt INTERACTION · 3 experiments
- FAM3CQ92520 · UniProt INTERACTION · 3 experiments
- FAXDC2Q96IV6 · UniProt INTERACTION · 3 experiments
ELOVL4 被註記為 oligomer；此資料支持其寡聚狀態，但未提供組成成員或更具體的結合對象。
疾病與遺傳關聯
ELOVL4 變異與數種疾病相關。Stargardt disease 3（STGD3）為常染色體顯性遺傳，常於第二個十年發病，表現為中心視力下降、黃斑部及其下方視網膜色素上皮萎縮，並常見視網膜後極明顯斑點。Ichthyosis, spastic quadriplegia, and impaired intellectual development（ISQMR）為嚴重的常染色體隱性疾病，可自出生起出現魚鱗癬，並伴隨深度精神運動發展遲滯、痙攣性四肢麻痺及癲癇。Spinocerebellar ataxia 34（SCA34）則為常染色體顯性疾病，特徵包括進行性小腦共濟失調與變異性紅斑角化症。這些資料指出變異關聯，未提供各變異的詳細作用機制。
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 · 33 筆
| 功能面向 | 功能敘述 | 證據類型 | 可查核來源 |
|---|---|---|---|
| 功能 | ELOVL4 催化長鏈脂肪酸延長循環四步反應中的第一步，也是速率限制步驟；此內質網相關過程每輪使長鏈及超長鏈脂肪酸增加兩個碳。它參與合成超長鏈飽和脂肪酸與多元不飽和脂肪酸，這些脂肪酸可作為膜脂質和脂質介質的前驅物；ELOVL4 也可能對早期腦部與皮膚發育具有重要作用。 | 含實驗來源 | 證據與來源Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development PMID 20937905 ↗ · PMID 23479632 ↗ |
| 分子活性 | a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA | 含實驗來源 | 證據與來源a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA PMID 20937905 ↗ |
| 分子活性 | tetracosanoyl-CoA + malonyl-CoA + H(+) = 3-oxohexacosanoyl-CoA + CO2 + CoA | 含實驗來源 | |
| 分子活性 | hexacosanoyl-CoA + malonyl-CoA + H(+) = 3-oxooctacosanyol-CoA + CO2 + CoA | 含實驗來源 | |
| 分子活性 | octacosanoyl-CoA + malonyl-CoA + H(+) = 3-oxo-triacontanoyl-CoA + CO2 + CoA | 推論支持 | |
| 分子活性 | triacontanoyl-CoA + malonyl-CoA + H(+) = 3-oxo-dotriacontanoyl-CoA + CO2 + CoA | 推論支持 | |
| 分子活性 | (19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + CO2 + CoA |
| 分子活性 | (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + CO2 + CoA |
| 分子活性 | (7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + malonyl-CoA + H(+) = (9Z,12Z,15Z,18Z)-3-oxotetracosatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + malonyl-CoA + H(+) = (9Z,12Z,15Z,18Z)-3-oxotetracosatetraenoyl-CoA + CO2 + CoA |
| 分子活性 | (11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + CO2 + CoA |
| 分子活性 | (13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + CO2 + CoA |
| 分子活性 | (15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + CO2 + CoA PMID 23479632 ↗ |
| 分子活性 | (17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + CO2 + CoA |
| 分子活性 | (21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(23Z,26Z,29Z,32Z,35Z)-octatriacontapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(23Z,26Z,29Z,32Z,35Z)-octatriacontapentaenoyl-CoA + CO2 + CoA |
| 分子活性 | (11Z,14Z,17Z,20Z)-hexacosatetraenoyl-CoA + malonyl-CoA + H(+) = (13Z,16Z,19Z,22Z)-3-oxooctacosatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(11Z,14Z,17Z,20Z)-hexacosatetraenoyl-CoA + malonyl-CoA + H(+) = (13Z,16Z,19Z,22Z)-3-oxooctacosatetraenoyl-CoA + CO2 + CoA |
| 分子活性 | (13Z,16Z,19Z,22Z)-octacosatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(13Z,16Z,19Z,22Z)-octacosatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + CO2 + CoA |
| 分子活性 | (15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + CO2 + CoA PMID 23479632 ↗ |
| 分子活性 | (17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + CO2 + CoA |
| 分子活性 | (19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + CO2 + CoA |
| 分子活性 | (21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(23Z,26Z,29Z,32Z)-octatriacontatetraenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(23Z,26Z,29Z,32Z)-octatriacontatetraenoyl-CoA + CO2 + CoA |
| 分子活性 | (6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + CO2 + CoA |
| 分子活性 | (8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + CO2 + CoA |
| 分子活性 | (10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + CO2 + CoA |
| 分子活性 | (12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + CO2 + CoA PMID 23479632 ↗ |
| 分子活性 | (14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + CO2 + CoA PMID 23479632 ↗ |
| 分子活性 | (16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(18Z,21Z,24Z,27Z,30Z,33Z)-hexatriacontahexaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(18Z,21Z,24Z,27Z,30Z,33Z)-hexatriacontahexaenoyl-CoA + CO2 + CoA |
| 分子活性 | (9Z,12Z,15Z,18Z,21Z)-tetracosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + CO2 + CoA | 推論支持 | 證據與來源(9Z,12Z,15Z,18Z,21Z)-tetracosapentaenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + CO2 + CoA |
| 分子活性 | ELOVL4 相關註解涵蓋脂質代謝與脂肪酸生合成。 | 資料庫紀錄 | |
| 交互作用 | Oligomer | 含實驗來源 | |
| 細胞定位 | ELOVL4 是多次跨膜蛋白，定位於內質網膜。 | 含實驗來源 | |
| 疾病關聯 | Stargardt disease 3（STGD3）是常染色體顯性遺傳的黃斑部退化疾病，通常在第二個十年發病，特徵包括中心視力下降、黃斑部及其下方視網膜色素上皮萎縮，且常在視網膜後極出現明顯斑點。此疾病與影響 ELOVL4 的基因變異相關。 | 含實驗來源 | 證據與來源Stargardt disease 3 STGD3 A form of Stargardt disease, a common hereditary macular degeneration characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD3 is an autosomal dominant form with onset most commonly in the second decade of life. The disease is caused by variants affecting the gene represented in this entry MIM: 600110 PMID 11138005 ↗ · PMID 11581213 ↗ |
| 疾病關聯 | Ichthyosis, spastic quadriplegia, and impaired intellectual development（ISQMR）是嚴重的常染色體隱性疾病，出生時即可有魚鱗癬，並可伴隨深度精神運動發展遲滯、幾乎沒有發展、痙攣性四肢麻痺及癲癇。此疾病與影響 ELOVL4 的基因變異相關。 | 含實驗來源 | 證據與來源Ichthyosis, spastic quadriplegia, and impaired intellectual development ISQMR A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. The disease is caused by variants affecting the gene represented in this entry MIM: 614457 PMID 22100072 ↗ |
| 疾病關聯 | Spinocerebellar ataxia 34（SCA34）屬於常染色體顯性小腦共濟失調，特徵為進行性步態不協調，手部、言語及眼球運動也常協調不良；病程與小腦退化有關，腦幹及脊髓受累程度不一。SCA34 亦以合併進行性小腦共濟失調和變異性紅斑角化症為特徵，並與影響 ELOVL4 的基因變異相關。 | 含實驗來源 | 證據與來源Spinocerebellar ataxia 34 SCA34 A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis. The disease is caused by variants affecting the gene represented in this entry MIM: 133190 PMID 24566826 ↗ |
核酸與蛋白質序列
GCAGACTGGTGCAGCGCACTGTGCTGGCGGCTGGGCCTCC40TCCACCTCCTCGTCTTTCTCCCGGGAACCTTGACGACGCC80TTCCGCTTGGCCCTGCCTTCTGCCGCATCCCCGCCGCCGC120GGCGCCTTGAGGAGCAGGAGAAGACGCAGCCGGGCCGCCG160CCGTTAGAGGGGTTCCCGGCCGCCGCTCGCCCCGTCGGCC200GCCACCGCCTCCGGGGTCAGCCCTCTCTCTGGGTCTCCGC240TTTCTCCTGCCGCCAGCGCCCGCTCATCGCCGCGATGGGG280CTCCTGGACTCGGAGCCGGGTAGTGTCCTAAACGTAGTGT320CCACGGCACTCAACGACACGGTAGAGTTCTACCGCTGGAC360CTGGTCCATCGCAGATAAGCGTGTGGAAAATTGGCCTCTG400ATGCAGTCTCCTTGGCCTACACTAAGTATAAGCACTCTTT440ATCTCCTGTTTGTGTGGCTGGGTCCAAAATGGATGAAGGA480CCGAGAACCTTTTCAGATGCGTCTAGTGCTCATTATCTAT520AATTTTGGGATGGTTTTGCTTAACCTCTTTATCTTCAGAG560AGTTATTCATGGGATCATATAATGCGGGATATAGCTATAT600TTGCCAGAGTGTGGATTATTCTAATAATGTTCATGAAGTC640AGGATAGCTGCTGCTCTGTGGTGGTACTTTGTATCTAAAG680GAGTTGAGTATTTGGACACAGTGTTTTTTATTCTGAGAAA720GAAAAACAACCAAGTTTCTTTCCTTCATGTGTATCATCAC760TGTACGATGTTTACCTTGTGGTGGATTGGAATTAAGTGGG800TTGCAGGAGGACAAGCATTTTTTGGAGCCCAGTTGAATTC840CTTTATCCATGTGATTATGTACTCATACTATGGGTTAACT880GCATTTGGCCCATGGATTCAGAAATATCTTTGGTGGAAAC920GATACCTGACTATGTTGCAACTGATTCAATTCCATGTGAC960cDNA 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。