| Gene Symbol |
FADS1
|
| Entrez Gene |
3992
|
| Alt Symbol |
D5D, FADS6, FADSD5, LLCDL1, TU12
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
fatty acid desaturase 1
|
| Other Description |
delta(5) desaturase|delta(5) fatty acid desaturase|delta-5 desaturase|delta-5 fatty acid desaturase|linoleoyl-CoA desaturase (delta-6-desaturase)-like 1
|
| Swissprots |
Q9NRP8 Q96I39 Q8NCC7 Q96T10 A8K0I7 Q9NYX1 B2RAI0 Q53GM5 Q8N3A6 Q96SV3 O60427 Q8NCG0
|
| Accessions |
AAC23397 AFL91514 AFL91515 AFL91516 AFL91517 AFL91518 AFL91519 AFL91520 AFL91521 AFL91522 AFL91523 AFL91524 AFL91525 AFL91526 AFL91527 AFL91528 AFL91529 AFL91530 AFL91531 AFL91532 AFL91533 AFL91534 AFL91535 AFL91536 AFL91537 AFL91538 AFL91539 AFL91540 AFL91541 AFL91542 AFL91543 AFL91544 AFL91545 AFL91546 AFL91547 AFL91548 AFL91549 AFL91550 AFL91551 AFL91552 AFL91553 AFL91554 AFL91555 AFL91556 AFL91557 AFL91558 AFL91559 AFL91560 AFL91561 AFL91562 AFL91563 AFL91564 AFL91565 AFL91566 AFL91567 AFL91568 AFL91569 AFL91570 AFL91571 AFL91572 AFL91573 AFL91574 AFL91575 AFL91576 AFL91577 AFL91578 AFL91579 AFL91580 AFL91581 AFL91582 AFL91583 AFL91584 AFL91585 AFL91586 AFL91587 AFL91588 AFL91589 AFL91590 AFL91591 AFL91592 AFL91593 AFL91594 AFL91595 AFL91596 AFL91597 AFL91598 AFL91599 AFL91600 AFL91601 AFL91602 AFL91603 AFL91604 AFL91605 AFL91606 AFL91607 AFL91608 AFL91609 AFL91610 AFL91611 AFL91612 AFL91613 AFL91614 AFL91615 AFL91616 AFL91617 AFL91618 AFL91619 AFL91620 AFL91621 AFL91622 AFL91623 AFL91624 AFL91625 AFL91626 AFL91627 AFL91628 AFL91629 AFL91630 AFL91631 AFL91632 AFL91633 AFL91634 AFL91635 AFL91636 AFL91637 AFL91638 AFL91639 AFL91640 AFL91641 AFL91642 AFL91643 AFL91644 AFL91645 AFL91646 AFL91647 AFL91648 AFL91649 AFL91650 AFL91651 AFL91652 AFL91653 AFL91654 AFL91655 AFL91656 AFL91657 AFL91658 AFL91659 AFL91660 AFL91661 AFL91662 AFL91663 AFL91664 AFL91665 AFL91666 AFL91667 AFL91668 AFL91669 AFL91670 AFL91671 AFL91672 AFL91673 AFL91674 AFL91675 AFL91676 AFL91677 AFL91678 AFL91679 AFL91680 AFL91681 AFL91682 AFL91683 AFL91684 AFL91685 AFL91686 AFL91687 AFL91688 AFL91689 EAW73973 O60427 AF035284 AF084558 AAG23120 AF199596 AAF29378 AF226273 AAF70457 AF271778 AAG44789 AI052027 AK027427 BAB55103 AK027522 BAB55173 AK074754 BAC11182 AK074819 BAC11229 AK096275 BAG53244 AK222906 BAD96626 AK289552 BAF82241 AK298871 BAH12889 AK314199 BAG36877 AL512760 CAC21679 AL834479 CAD39138 BC007846 AAH07846 BP253788 DQ890643 ABM92260 DQ893822 ABM84748 XM_011545022 XP_011543324 NM_013402 NP_037534
|
| Function |
Isoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By similarity). Isoform 1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3), respectively. {ECO:0000250, ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175}.
|
| Subcellular Location |
Isoform 1: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Mitochondrion {ECO:0000269|PubMed:22619218}.
|
| Tissue Specificity |
Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain. {ECO:0000269|PubMed:10601301, ECO:0000269|PubMed:10769175, ECO:0000269|PubMed:10860662}.
|
| Top Pathways |
Biosynthesis of unsaturated fatty acids, Fatty acid metabolism
|