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Protein Ontology report - presenilin-1 (human)
PR:P49768 - http://purl.obolibrary.org/obo/PR_P49768
 
  Protein Forms      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:P49768   
  PRO namepresenilin-1 (human) 
  Synonyms
PRO-Short-label: EXACT:hPSEN1
Gene-based: RELATED:AD3 | PS1 | PSEN1 | PSNL1
Other: EXACT:protein S182 (human) | PS-1 (human)
  Definition"A presenilin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P49768] 
  CommentRequested by=Alzforum. 
  PRO Categoryorganism-gene 
  ParentPR:000013344 presenilin-1
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:9508 PSEN1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 0                                        
         Sequence0                                                  Organism-Sequence 0                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:P49768
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:P49768 presenilin-1 (human), hPSEN1

organism-sequence


PR:000036285 presenilin-1 sequence variant (human), hPSEN1/var+





PR:000037555 presenilin-1 sequence variant R35Q (human),





PR:000037556 presenilin-1 sequence variant D40del (human),





PR:000037557 presenilin-1 sequence variant A79V (human),





PR:000037558 presenilin-1 sequence variant V82L (human),





PR:000037559 presenilin-1 sequence variant L85P (human),





PR:000037560 presenilin-1 sequence variant V89L (human),





PR:000037561 presenilin-1 sequence variant C92S (human),





PR:000037562 presenilin-1 sequence variant V94M (human),





PR:000037563 presenilin-1 sequence variant V96F (human),





PR:000037564 presenilin-1 sequence variant V97L (human),





PR:000037565 presenilin-1 sequence variant F105I (human),





PR:000037566 presenilin-1 sequence variant F105V (human),





PR:000037567 presenilin-1 sequence variant F105C (human),





PR:000037568 presenilin-1 sequence variant F105L (human),





PR:000037569 presenilin-1 sequence variant L113Q (human),





PR:000037570 presenilin-1 sequence variant L113P (human),





PR:000037571 presenilin-1 sequence variant Y115H (human),





PR:000037572 presenilin-1 sequence variant Y115C (human),





PR:000037573 presenilin-1 sequence variant Y115D (human),





PR:000037574 presenilin-1 sequence variant T116I (human),





PR:000037575 presenilin-1 sequence variant T116N (human),





PR:000037576 presenilin-1 sequence variant P117S (human),





PR:000037577 presenilin-1 sequence variant P117R (human),





PR:000037578 presenilin-1 sequence variant P117A (human),





PR:000037579 presenilin-1 sequence variant P117L (human),





PR:000037580 presenilin-1 sequence variant E120K (human),





PR:000037581 presenilin-1 sequence variant E120G (human),





PR:000037582 presenilin-1 sequence variant E120D (human),





PR:000037583 presenilin-1 sequence variant E123K (human),





PR:000037584 presenilin-1 sequence variant N135D (human),





PR:000037585 presenilin-1 sequence variant N135S (human),





PR:000037586 presenilin-1 sequence variant A136G (human),





PR:000037587 presenilin-1 sequence variant M139T (human),





PR:000037588 presenilin-1 sequence variant M139V (human),





PR:000037589 presenilin-1 sequence variant M139K (human),





PR:000037590 presenilin-1 sequence variant M139I (human),





PR:000037591 presenilin-1 sequence variant I143N (human),





PR:000037592 presenilin-1 sequence variant I143V (human),





PR:000037593 presenilin-1 sequence variant I143F (human),





PR:000037594 presenilin-1 sequence variant I143T (human),





PR:000037595 presenilin-1 sequence variant I143M (human),





PR:000037596 presenilin-1 sequence variant M146L (human),





PR:000037597 presenilin-1 sequence variant M146I (human),





PR:000037598 presenilin-1 sequence variant M146V (human),





PR:000037599 presenilin-1 sequence variant T147P (human),





PR:000037600 presenilin-1 sequence variant T147I (human),





PR:000037601 presenilin-1 sequence variant L153V (human),





PR:000037602 presenilin-1 sequence variant Y154N (human),





PR:000037603 presenilin-1 sequence variant Y154C (human),





PR:000037604 presenilin-1 sequence variant H163Y (human),





PR:000037605 presenilin-1 sequence variant H163P (human),





PR:000037606 presenilin-1 sequence variant H163R (human),





PR:000037607 presenilin-1 sequence variant W165G (human),





PR:000037608 presenilin-1 sequence variant W165C (human),





PR:000037609 presenilin-1 sequence variant L166R (human),





PR:000037610 presenilin-1 sequence variant L166P (human),





PR:000037611 presenilin-1 sequence variant L166H (human),





PR:000037612 presenilin-1 sequence variant L166del (human),





PR:000037613 presenilin-1 sequence variant I167del (human),





PR:000037614 presenilin-1 sequence variant I168del (human),





PR:000037615 presenilin-1 sequence variant S169L (human),





PR:000037616 presenilin-1 sequence variant S169P (human),





PR:000037617 presenilin-1 sequence variant S170F (human),





PR:000037618 presenilin-1 sequence variant L171P (human),





PR:000037619 presenilin-1 sequence variant L173W (human),





PR:000037620 presenilin-1 sequence variant L173F (human),





PR:000037621 presenilin-1 sequence variant L174R (human),





PR:000037622 presenilin-1 sequence variant L174M (human),





PR:000037623 presenilin-1 sequence variant F175S (human),





PR:000037624 presenilin-1 sequence variant F177S (human),





PR:000037625 presenilin-1 sequence variant F177L (human),





PR:000037626 presenilin-1 sequence variant S178P (human),





PR:000037627 presenilin-1 sequence variant G183V (human),





PR:000037628 presenilin-1 sequence variant E184D (human),





PR:000037629 presenilin-1 sequence variant V191A (human),





PR:000037630 presenilin-1 sequence variant G206A (human),





PR:000037631 presenilin-1 sequence variant G206S (human),





PR:000037632 presenilin-1 sequence variant G206V (human),





PR:000037633 presenilin-1 sequence variant G206D (human),





PR:000037634 presenilin-1 sequence variant G209E (human),





PR:000037635 presenilin-1 sequence variant G209R (human),





PR:000037636 presenilin-1 sequence variant G209V (human),





PR:000037637 presenilin-1 sequence variant S212Y (human),





PR:000037638 presenilin-1 sequence variant I213T (human),





PR:000037639 presenilin-1 sequence variant I213F (human),





PR:000037640 presenilin-1 sequence variant H214Y (human),





PR:000037641 presenilin-1 sequence variant H214D (human),





PR:000037642 presenilin-1 sequence variant G217D (human),





PR:000037643 presenilin-1 sequence variant G217R (human),





PR:000037644 presenilin-1 sequence variant L219F (human),





PR:000037645 presenilin-1 sequence variant L219P (human),





PR:000037646 presenilin-1 sequence variant Q222R (human),





PR:000037647 presenilin-1 sequence variant Q222H (human),





PR:000037648 presenilin-1 sequence variant Q223R (human),





PR:000037649 presenilin-1 sequence variant L226R (human),





PR:000037650 presenilin-1 sequence variant I229F (human),





PR:000037651 presenilin-1 sequence variant A231V (human),





PR:000037652 presenilin-1 sequence variant A231T (human),





PR:000037653 presenilin-1 sequence variant M233L (human),





PR:000037654 presenilin-1 sequence variant M233T (human),





PR:000037655 presenilin-1 sequence variant M233I (human),





PR:000037656 presenilin-1 sequence variant M233V (human),





PR:000037657 presenilin-1 sequence variant L235P (human),





PR:000037658 presenilin-1 sequence variant L235V (human),





PR:000037659 presenilin-1 sequence variant F237L (human),





PR:000037660 presenilin-1 sequence variant F237I (human),





PR:000037661 presenilin-1 sequence variant I238M (human),





PR:000037662 presenilin-1 sequence variant K239N (human),





PR:000037663 presenilin-1 sequence variant T245P (human),





PR:000037664 presenilin-1 sequence variant A246E (human),





PR:000037665 presenilin-1 sequence variant L248R (human),





PR:000037666 presenilin-1 sequence variant L248P (human),





PR:000037667 presenilin-1 sequence variant L250S (human),





PR:000037668 presenilin-1 sequence variant L250V (human),





PR:000037669 presenilin-1 sequence variant Y256S (human),





PR:000037670 presenilin-1 sequence variant A260V (human),





PR:000037671 presenilin-1 sequence variant V261F (human),





PR:000037672 presenilin-1 sequence variant V261L (human),





PR:000037673 presenilin-1 sequence variant L262F (human),





PR:000037674 presenilin-1 sequence variant C263R (human),





PR:000037675 presenilin-1 sequence variant C263F (human),





PR:000037676 presenilin-1 sequence variant P264L (human),





PR:000037677 presenilin-1 sequence variant G266S (human),





PR:000037678 presenilin-1 sequence variant P267S (human),





PR:000037680 presenilin-1 sequence variant R269H (human),





PR:000037681 presenilin-1 sequence variant R269G (human),





PR:000037682 presenilin-1 sequence variant L271V (human),





PR:000037683 presenilin-1 sequence variant V272A (human),





PR:000037684 presenilin-1 sequence variant E273A (human),





PR:000037685 presenilin-1 sequence variant T274R (human),





PR:000037686 presenilin-1 sequence variant A275V (human),





PR:000037687 presenilin-1 sequence variant R278I (human),





PR:000037688 presenilin-1 sequence variant R278K (human),





PR:000037689 presenilin-1 sequence variant R278T (human),





PR:000037690 presenilin-1 sequence variant R278S (human),





PR:000037691 presenilin-1 sequence variant E280A (human),





PR:000037692 presenilin-1 sequence variant E280G (human),





PR:000037693 presenilin-1 sequence variant L282V (human),





PR:000037694 presenilin-1 sequence variant L282F (human),





PR:000037695 presenilin-1 sequence variant L282R (human),





PR:000037696 presenilin-1 sequence variant P284L (human),





PR:000037697 presenilin-1 sequence variant P284S (human),





PR:000037698 presenilin-1 sequence variant A285V (human),





PR:000037699 presenilin-1 sequence variant L286V (human),





PR:000037700 presenilin-1 sequence variant L286P (human),





PR:000037701 presenilin-1 sequence variant T291P (human),





PR:000037702 presenilin-1 sequence variant E318G (human),





PR:000037703 presenilin-1 sequence variant D333G (human),





PR:000037704 presenilin-1 sequence variant T354I (human),





PR:000037705 presenilin-1 sequence variant R358Q (human),





PR:000037706 presenilin-1 sequence variant S365A (human),





PR:000037707 presenilin-1 sequence variant S365Y (human),





PR:000037708 presenilin-1 sequence variant R377M (human),





PR:000037709 presenilin-1 sequence variant G378E (human),





PR:000037710 presenilin-1 sequence variant G378V (human),





PR:000037711 presenilin-1 sequence variant L381V (human),





PR:000037712 presenilin-1 sequence variant L381F (human),





PR:000037713 presenilin-1 sequence variant G384A (human),





PR:000037714 presenilin-1 sequence variant F386S (human),





PR:000037715 presenilin-1 sequence variant S390I (human),





PR:000037716 presenilin-1 sequence variant V391F (human),





PR:000037717 presenilin-1 sequence variant L392V (human),





PR:000037718 presenilin-1 sequence variant L392P (human),





PR:000037719 presenilin-1 sequence variant G394V (human),





PR:000037720 presenilin-1 sequence variant N405S (human),





PR:000037721 presenilin-1 sequence variant A409T (human),





PR:000037722 presenilin-1 sequence variant C410Y (human),





PR:000037723 presenilin-1 sequence variant V412I (human),





PR:000037724 presenilin-1 sequence variant L418F (human),





PR:000037725 presenilin-1 sequence variant L420R (human),





PR:000037726 presenilin-1 sequence variant L424H (human),





PR:000037727 presenilin-1 sequence variant L424R (human),





PR:000037728 presenilin-1 sequence variant L424F (human),





PR:000037729 presenilin-1 sequence variant L424V (human),





PR:000037730 presenilin-1 sequence variant A426P (human),





PR:000037731 presenilin-1 sequence variant A431V (human),





PR:000037732 presenilin-1 sequence variant A431E (human),





PR:000037733 presenilin-1 sequence variant A434C (human),





PR:000037734 presenilin-1 sequence variant A434T (human),





PR:000037735 presenilin-1 sequence variant L435F (human),





PR:000037736 presenilin-1 sequence variant P436S (human),





PR:000037737 presenilin-1 sequence variant P436Q (human),





PR:000037738 presenilin-1 sequence variant I439S (human),





PR:000037739 presenilin-1 sequence variant I439V (human),





PR:000037740 presenilin-1 sequence variant T440del (human),





PR:000044551 presenilin-1 sequence variant F386I (human),





PR:000044552 presenilin-1 sequence variant F388L (human),





PR:000044553 presenilin-1 sequence variant G209A (human),





PR:000044554 presenilin-1 sequence variant H214N (human),





PR:000044555 presenilin-1 sequence variant I408T (human),





PR:000044556 presenilin-1 sequence variant N135Y (human),





PR:000044557 presenilin-1 sequence variant P267A (human),





PR:000044558 presenilin-1 sequence variant R220P (human),





PR:000044559 presenilin-1 sequence variant S169del (human),





PR:000044632 presenilin-1 sequence variant F205L (human),





PR:000044635 presenilin-1 sequence variant I213L (human),





PR:000045447 presenilin-1 sequence variant E69D (human),





PR:000045448 presenilin-1 sequence variant I83T (human),





PR:000045449 presenilin-1 sequence variant T99A (human),





PR:000045450 presenilin-1 sequence variant R108Q (human),





PR:000045451 presenilin-1 sequence variant T116R (human),





PR:000045452 presenilin-1 sequence variant H131R (human),





PR:000045453 presenilin-1 sequence variant L134R (human),





PR:000045454 presenilin-1 sequence variant L150P (human),





PR:000045455 presenilin-1 sequence variant A164V (human),





PR:000045456 presenilin-1 sequence variant L166V (human),





PR:000045457 presenilin-1 sequence variant I168T (human),





PR:000045458 presenilin-1 sequence variant F176L (human),





PR:000045459 presenilin-1 sequence variant E184G (human),





PR:000045460 presenilin-1 sequence variant I202F (human),





PR:000045461 presenilin-1 sequence variant L219R (human),





PR:000045462 presenilin-1 sequence variant L226F (human),





PR:000045463 presenilin-1 sequence variant S230R (human),





PR:000045464 presenilin-1 sequence variant S230I (human),





PR:000045465 presenilin-1 sequence variant A231P (human),





PR:000045466 presenilin-1 sequence variant L235R (human),





PR:000045467 presenilin-1 sequence variant A246P (human),





PR:000045468 presenilin-1 sequence variant L262V (human),





PR:000045469 presenilin-1 sequence variant E273G (human),





PR:000045470 presenilin-1 sequence variant E280K (human),





PR:000045471 presenilin-1 sequence variant R352C (human),





PR:000045472 presenilin-1 sequence variant R377W (human),





PR:000045473 presenilin-1 sequence variant S390N (human),





PR:000045474 presenilin-1 sequence variant A396T (human),





PR:000045475 presenilin-1 sequence variant I437V (human),





PR:000050490 presenilin-1 sequence variant P433S (human),

organism-sequence


PR:P49768-1 presenilin-1 isoform 1 (human), hPSEN1/iso:1

organism-sequence


PR:P49768-2 presenilin-1 isoform h2 (human), hPSEN1/iso:h2

organism-sequence


PR:P49768-3 presenilin-1 isoform h3 (human), hPSEN1/iso:h3

organism-sequence


PR:P49768-4 presenilin-1 isoform h4 (human), hPSEN1/iso:h4

organism-sequence


PR:P49768-5 presenilin-1 isoform h5 (human), hPSEN1/iso:h5

organism-sequence


PR:P49768-6 presenilin-1 isoform h6 (human), hPSEN1/iso:h6

organism-sequence


PR:P49768-7 presenilin-1 isoform h7 (human), hPSEN1/iso:h7

organism-modification


PR:000045805 presenilin-1 phosphorylated 1 (human), hPSEN1/Phos:1

organism-modification


PR:000071321 presenilin-1 cysteinylated 1 (human), hPSEN1/Cyst:1

organism-modification


PR:000081677 presenilin-1 deaminated 1 (human), hPSEN1/Deam:1