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Protein

Presenilin-2

Gene

PSEN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei2631 Publication1
Active sitei3662 Publications1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease

Keywords - Biological processi

Notch signaling pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143801-MONOMER.
ReactomeiR-HSA-1251985. Nuclear signaling by ERBB4.
R-HSA-193692. Regulated proteolysis of p75NTR.
R-HSA-1980148. Signaling by NOTCH3.
R-HSA-1980150. Signaling by NOTCH4.
R-HSA-205043. NRIF signals cell death from the nucleus.
R-HSA-2122948. Activated NOTCH1 Transmits Signal to the Nucleus.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-2979096. NOTCH2 Activation and Transmission of Signal to the Nucleus.
R-HSA-3928665. EPH-ephrin mediated repulsion of cells.
SignaLinkiP49810.
SIGNORiP49810.

Protein family/group databases

MEROPSiA22.002.
TCDBi1.A.54.1.2. the presenilin er ca(2+) leak channel (presenilin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Presenilin-2 (EC:3.4.23.-)
Short name:
PS-2
Alternative name(s):
AD3LP
AD5
E5-1
STM-2
Cleaved into the following 2 chains:
Gene namesi
Name:PSEN2
Synonyms:AD4, PS2, PSNL2, STM2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:9509. PSEN2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 87CytoplasmicSequence analysisAdd BLAST87
Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109 – 138LumenalSequence analysisAdd BLAST30
Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
Topological domaini160 – 166CytoplasmicSequence analysis7
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Topological domaini188 – 200LumenalSequence analysisAdd BLAST13
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 223CytoplasmicSequence analysis2
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 249LumenalSequence analysis5
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 361CytoplasmicSequence analysisAdd BLAST91
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Topological domaini383 – 388LumenalSequence analysis6
Transmembranei389 – 409HelicalSequence analysisAdd BLAST21
Topological domaini410 – 413CytoplasmicSequence analysis4
Intramembranei414 – 434HelicalSequence analysisAdd BLAST21
Topological domaini435 – 448CytoplasmicSequence analysisAdd BLAST14

GO - Cellular componenti

  • apical plasma membrane Source: GO_Central
  • cell cortex Source: GO_Central
  • centrosome Source: UniProtKB
  • endoplasmic reticulum Source: HGNC
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • Golgi apparatus Source: HGNC
  • Golgi membrane Source: UniProtKB-SubCell
  • integral component of plasma membrane Source: HGNC
  • kinetochore Source: UniProtKB
  • membrane Source: UniProtKB
  • neuronal cell body Source: GO_Central
  • nuclear inner membrane Source: UniProtKB
  • perinuclear region of cytoplasm Source: GO_Central
  • plasma membrane Source: Reactome
  • protein complex Source: UniProtKB
  • Z disc Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Alzheimer disease 4 (AD4)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
See also OMIM:606889
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00646162R → H in AD4; uncertain pathological significance. 2 PublicationsCorresponds to variant rs58973334dbSNPEnsembl.1
Natural variantiVAR_07002771R → W in AD4; unknown pathological significance. 1 PublicationCorresponds to variant rs140501902dbSNPEnsembl.1
Natural variantiVAR_009214122T → P in AD4. 1 PublicationCorresponds to variant rs63749851dbSNPEnsembl.1
Natural variantiVAR_064903130S → L in CMD1V and AD4; unknown pathological significance. 2 PublicationsCorresponds to variant rs63750197dbSNPEnsembl.1
Natural variantiVAR_006462141N → I in AD4. 2 PublicationsCorresponds to variant rs63750215dbSNPEnsembl.1
Natural variantiVAR_007958148V → I in AD4; late-onset Alzheimer disease. 1 PublicationCorresponds to variant rs63750812dbSNPEnsembl.1
Natural variantiVAR_009215239M → I in AD4. 1 PublicationCorresponds to variant rs63749884dbSNPEnsembl.1
Natural variantiVAR_006463239M → V in AD4; Italian patients. 1 PublicationCorresponds to variant rs28936379dbSNPEnsembl.1
Cardiomyopathy, dilated 1V (CMD1V)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:613697
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064903130S → L in CMD1V and AD4; unknown pathological significance. 2 PublicationsCorresponds to variant rs63750197dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi263D → A: Reduces production of amyloid beta in APP processing. 1 Publication1
Mutagenesisi366D → A: Reduces production of amyloid beta in APP processing and of NICD in NOTCH1 processing. 2 Publications1

Keywords - Diseasei

Alzheimer disease, Amyloidosis, Cardiomyopathy, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi5664.
MalaCardsiPSEN2.
MIMi606889. phenotype.
613697. phenotype.
OpenTargetsiENSG00000143801.
Orphaneti1020. Early-onset autosomal dominant Alzheimer disease.
154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA33856.

Chemistry databases

ChEMBLiCHEMBL3708.

Polymorphism and mutation databases

BioMutaiPSEN2.
DMDMi1709858.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000256031 – 297Presenilin-2 NTF subunitBy similarityAdd BLAST297
ChainiPRO_0000025604298 – 448Presenilin-2 CTF subunitBy similarityAdd BLAST151

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei22PhosphoserineCombined sources1
Modified residuei25PhosphoserineCombined sources1
Modified residuei30PhosphoserineBy similarity1

Post-translational modificationi

Heterogeneous proteolytic processing generates N-terminal and C-terminal fragments.
Phosphorylated on serine residues.

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP49810.
MaxQBiP49810.
PaxDbiP49810.
PeptideAtlasiP49810.
PRIDEiP49810.

PTM databases

iPTMnetiP49810.
PhosphoSitePlusiP49810.
SwissPalmiP49810.

Expressioni

Tissue specificityi

Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.1 Publication

Gene expression databases

BgeeiENSG00000143801.
CleanExiHS_PSEN2.
ExpressionAtlasiP49810. baseline and differential.
GenevisibleiP49810. HS.

Organism-specific databases

HPAiCAB013634.

Interactioni

Subunit structurei

Interacts with DOCK3 (By similarity). Homodimer. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. Interacts with HERPUD1, FLNA, FLNB and PARL.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DYNC1H1Q142043EBI-2010251,EBI-356015
ECSITQ9BQ954EBI-2010251,EBI-712452
PDCD4Q53EL63EBI-2010251,EBI-935824

Protein-protein interaction databases

BioGridi111643. 57 interactors.
IntActiP49810. 24 interactors.
MINTiMINT-95242.
STRINGi9606.ENSP00000355747.

Chemistry databases

BindingDBiP49810.

Structurei

3D structure databases

ProteinModelPortaliP49810.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi414 – 416PAL3

Domaini

The PAL motif is required for normal active site conformation.By similarity

Sequence similaritiesi

Belongs to the peptidase A22A family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2736. Eukaryota.
ENOG410XPZD. LUCA.
GeneTreeiENSGT00390000016593.
HOGENOMiHOG000240228.
HOVERGENiHBG011375.
InParanoidiP49810.
KOiK04522.
PhylomeDBiP49810.
TreeFamiTF315040.

Family and domain databases

InterProiIPR001493. Pept_A22A_PS2.
IPR001108. Peptidase_A22A.
IPR006639. Preselin/SPP.
[Graphical view]
PANTHERiPTHR10202. PTHR10202. 1 hit.
PTHR10202:SF20. PTHR10202:SF20. 1 hit.
PfamiPF01080. Presenilin. 2 hits.
[Graphical view]
PRINTSiPR01072. PRESENILIN.
PR01074. PRESENILIN2.
SMARTiSM00730. PSN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P49810-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLTFMASDSE EEVCDERTSL MSAESPTPRS CQEGRQGPED GENTAQWRSQ
60 70 80 90 100
ENEEDGEEDP DRYVCSGVPG RPPGLEEELT LKYGAKHVIM LFVPVTLCMI
110 120 130 140 150
VVVATIKSVR FYTEKNGQLI YTPFTEDTPS VGQRLLNSVL NTLIMISVIV
160 170 180 190 200
VMTIFLVVLY KYRCYKFIHG WLIMSSLMLL FLFTYIYLGE VLKTYNVAMD
210 220 230 240 250
YPTLLLTVWN FGAVGMVCIH WKGPLVLQQA YLIMISALMA LVFIKYLPEW
260 270 280 290 300
SAWVILGAIS VYDLVAVLCP KGPLRMLVET AQERNEPIFP ALIYSSAMVW
310 320 330 340 350
TVGMAKLDPS SQGALQLPYD PEMEEDSYDS FGEPSYPEVF EPPLTGYPGE
360 370 380 390 400
ELEEEEERGV KLGLGDFIFY SVLVGKAAAT GSGDWNTTLA CFVAILIGLC
410 420 430 440
LTLLLLAVFK KALPALPISI TFGLIFYFST DNLVRPFMDT LASHQLYI
Length:448
Mass (Da):50,140
Last modified:October 1, 1996 - v1
Checksum:iA927EEC623468116
GO
Isoform 2 (identifier: P49810-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     263-296: Missing.

Show »
Length:414
Mass (Da):46,387
Checksum:i75A03F21290BAFF8
GO
Isoform 3 (identifier: P49810-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     324-324: Missing.

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):50,011
Checksum:iAA9D4FD8CB46E669
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti123P → T (PubMed:7638622).Curated1
Sequence conflicti123P → T (Ref. 10) Curated1
Sequence conflicti295S → L in AAL16812 (Ref. 10) Curated1
Sequence conflicti325Missing in AAC50290 (PubMed:8618867).Curated1
Sequence conflicti358R → SQG in AAC50290 (PubMed:8618867).Curated1
Sequence conflicti432 – 448NLVRP…HQLYI → RKHSRFIQMN (PubMed:8618867).CuratedAdd BLAST17

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00646162R → H in AD4; uncertain pathological significance. 2 PublicationsCorresponds to variant rs58973334dbSNPEnsembl.1
Natural variantiVAR_07002771R → W in AD4; unknown pathological significance. 1 PublicationCorresponds to variant rs140501902dbSNPEnsembl.1
Natural variantiVAR_009214122T → P in AD4. 1 PublicationCorresponds to variant rs63749851dbSNPEnsembl.1
Natural variantiVAR_064903130S → L in CMD1V and AD4; unknown pathological significance. 2 PublicationsCorresponds to variant rs63750197dbSNPEnsembl.1
Natural variantiVAR_006462141N → I in AD4. 2 PublicationsCorresponds to variant rs63750215dbSNPEnsembl.1
Natural variantiVAR_007958148V → I in AD4; late-onset Alzheimer disease. 1 PublicationCorresponds to variant rs63750812dbSNPEnsembl.1
Natural variantiVAR_009215239M → I in AD4. 1 PublicationCorresponds to variant rs63749884dbSNPEnsembl.1
Natural variantiVAR_006463239M → V in AD4; Italian patients. 1 PublicationCorresponds to variant rs28936379dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005194263 – 296Missing in isoform 2. CuratedAdd BLAST34
Alternative sequenceiVSP_043648324Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L43964 mRNA. Translation: AAB59557.1.
L44577 mRNA. Translation: AAC42012.1.
U34349 mRNA. Translation: AAC50290.1.
U50871 Genomic DNA. Translation: AAB50054.1.
BT006984 mRNA. Translation: AAP35630.1.
AK292299 mRNA. Translation: BAF84988.1.
AL391628 Genomic DNA. Translation: CAH73110.1.
CH471098 Genomic DNA. Translation: EAW69798.1.
CH471098 Genomic DNA. Translation: EAW69800.1.
BC006365 mRNA. Translation: AAH06365.1.
AF416718 mRNA. Translation: AAL16812.1.
CCDSiCCDS1556.1. [P49810-1]
CCDS44324.1. [P49810-3]
PIRiA56993.
I39174.
RefSeqiNP_000438.2. NM_000447.2. [P49810-1]
NP_036618.2. NM_012486.2. [P49810-3]
XP_005273256.1. XM_005273199.3. [P49810-1]
XP_016857324.1. XM_017001835.1. [P49810-1]
XP_016857325.1. XM_017001836.1. [P49810-3]
UniGeneiHs.25363.

Genome annotation databases

EnsembliENST00000366783; ENSP00000355747; ENSG00000143801. [P49810-1]
ENST00000422240; ENSP00000403737; ENSG00000143801. [P49810-3]
GeneIDi5664.
KEGGihsa:5664.
UCSCiuc009xeo.2. human. [P49810-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Alzheimer Research Forum

Presenilins mutations

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L43964 mRNA. Translation: AAB59557.1.
L44577 mRNA. Translation: AAC42012.1.
U34349 mRNA. Translation: AAC50290.1.
U50871 Genomic DNA. Translation: AAB50054.1.
BT006984 mRNA. Translation: AAP35630.1.
AK292299 mRNA. Translation: BAF84988.1.
AL391628 Genomic DNA. Translation: CAH73110.1.
CH471098 Genomic DNA. Translation: EAW69798.1.
CH471098 Genomic DNA. Translation: EAW69800.1.
BC006365 mRNA. Translation: AAH06365.1.
AF416718 mRNA. Translation: AAL16812.1.
CCDSiCCDS1556.1. [P49810-1]
CCDS44324.1. [P49810-3]
PIRiA56993.
I39174.
RefSeqiNP_000438.2. NM_000447.2. [P49810-1]
NP_036618.2. NM_012486.2. [P49810-3]
XP_005273256.1. XM_005273199.3. [P49810-1]
XP_016857324.1. XM_017001835.1. [P49810-1]
XP_016857325.1. XM_017001836.1. [P49810-3]
UniGeneiHs.25363.

3D structure databases

ProteinModelPortaliP49810.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111643. 57 interactors.
IntActiP49810. 24 interactors.
MINTiMINT-95242.
STRINGi9606.ENSP00000355747.

Chemistry databases

BindingDBiP49810.
ChEMBLiCHEMBL3708.

Protein family/group databases

MEROPSiA22.002.
TCDBi1.A.54.1.2. the presenilin er ca(2+) leak channel (presenilin) family.

PTM databases

iPTMnetiP49810.
PhosphoSitePlusiP49810.
SwissPalmiP49810.

Polymorphism and mutation databases

BioMutaiPSEN2.
DMDMi1709858.

Proteomic databases

EPDiP49810.
MaxQBiP49810.
PaxDbiP49810.
PeptideAtlasiP49810.
PRIDEiP49810.

Protocols and materials databases

DNASUi5664.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366783; ENSP00000355747; ENSG00000143801. [P49810-1]
ENST00000422240; ENSP00000403737; ENSG00000143801. [P49810-3]
GeneIDi5664.
KEGGihsa:5664.
UCSCiuc009xeo.2. human. [P49810-1]

Organism-specific databases

CTDi5664.
DisGeNETi5664.
GeneCardsiPSEN2.
GeneReviewsiPSEN2.
HGNCiHGNC:9509. PSEN2.
HPAiCAB013634.
MalaCardsiPSEN2.
MIMi600759. gene.
606889. phenotype.
613697. phenotype.
neXtProtiNX_P49810.
OpenTargetsiENSG00000143801.
Orphaneti1020. Early-onset autosomal dominant Alzheimer disease.
154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA33856.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2736. Eukaryota.
ENOG410XPZD. LUCA.
GeneTreeiENSGT00390000016593.
HOGENOMiHOG000240228.
HOVERGENiHBG011375.
InParanoidiP49810.
KOiK04522.
PhylomeDBiP49810.
TreeFamiTF315040.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143801-MONOMER.
ReactomeiR-HSA-1251985. Nuclear signaling by ERBB4.
R-HSA-193692. Regulated proteolysis of p75NTR.
R-HSA-1980148. Signaling by NOTCH3.
R-HSA-1980150. Signaling by NOTCH4.
R-HSA-205043. NRIF signals cell death from the nucleus.
R-HSA-2122948. Activated NOTCH1 Transmits Signal to the Nucleus.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-2979096. NOTCH2 Activation and Transmission of Signal to the Nucleus.
R-HSA-3928665. EPH-ephrin mediated repulsion of cells.
SignaLinkiP49810.
SIGNORiP49810.

Miscellaneous databases

ChiTaRSiPSEN2. human.
GeneWikiiPSEN2.
GenomeRNAii5664.
PROiP49810.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143801.
CleanExiHS_PSEN2.
ExpressionAtlasiP49810. baseline and differential.
GenevisibleiP49810. HS.

Family and domain databases

InterProiIPR001493. Pept_A22A_PS2.
IPR001108. Peptidase_A22A.
IPR006639. Preselin/SPP.
[Graphical view]
PANTHERiPTHR10202. PTHR10202. 1 hit.
PTHR10202:SF20. PTHR10202:SF20. 1 hit.
PfamiPF01080. Presenilin. 2 hits.
[Graphical view]
PRINTSiPR01072. PRESENILIN.
PR01074. PRESENILIN2.
SMARTiSM00730. PSN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPSN2_HUMAN
AccessioniPrimary (citable) accession number: P49810
Secondary accession number(s): A8K8D4, B1AP21, Q96P32
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 184 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.