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Protein

Beclin-1

Gene

BECN1

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

Functioni

Plays a central role in autophagy (PubMed:23184933, PubMed:28445460). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). Protects against infection by a neurovirulent strain of Sindbis virus (PubMed:9765397). May play a role in antiviral host defense.Curated7 Publications
Beclin-1-C 35 kDa localized to mitochondria can promote apoptosis; it induces the mitochondrial translocation of BAX and the release of proapoptotic factors.2 Publications

Miscellaneous

Expanded poly-Gln tracts inhibit ATXN3-BECN1 interaction, decrease BECN1 levels and impair starvation-induced autophagy (PubMed:28445460).1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processAntiviral defense, Apoptosis, Autophagy, Cell cycle, Cell division, Endocytosis, Host-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-1632852 Macroautophagy
R-HSA-5689880 Ub-specific processing proteases
SIGNORiQ14457

Protein family/group databases

MoonDBiQ14457 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Beclin-1
Alternative name(s):
Coiled-coil myosin-like BCL2-interacting protein
Protein GT197
Cleaved into the following 2 chains:
Beclin-1-C 35 kDa1 Publication
Beclin-1-C 37 kDa1 Publication
Gene namesi
Name:BECN1
Synonyms:GT197
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000126581.12
HGNCiHGNC:1034 BECN1
MIMi604378 gene
neXtProtiNX_Q14457

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Golgi apparatus, Membrane, Mitochondrion, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi90S → A: Complete loss of phosphorylation. Complete loss of phosphorylation and defective autophagic function; when associated with Ala-93. 1 Publication1
Mutagenesisi93S → A: Partial loss of phosphorylation. Complete loss of phosphorylation and defective autophagic function; when associated with Ala-90. 1 Publication1
Mutagenesisi112L → A: Weakly decreases interaction with MUHV-4 M11, greatly decreases interaction with BCL2L1 isoform Bcl-X(L). 2 Publications1
Mutagenesisi116L → A: Decreases interaction with BCL2L1 isoform Bcl-X(L). 3 Publications1
Mutagenesisi117K → A: Weakly decreases interaction with MUHV-4 M11, greatly decreases interaction with BCL2L1 isoform Bcl-X(L). 1 Publication1
Mutagenesisi120 – 121GD → EA: Weakly decreases interaction with MUHV-4 M11, disrupts interaction with BCL2L1 isoform Bcl-X(L). 1 Publication2
Mutagenesisi120G → E: Decreases interaction with MUHV-4 M11, disrupts interaction with BCL2L1 isoform Bcl-X(L). 1 Publication1
Mutagenesisi121D → A: No effect on interaction with MUHV-4 M11, disrupts interaction with BCL2L1 isoform Bcl-X(L). 1 Publication1
Mutagenesisi123F → A: Weakly decreases interaction with MUHV-4 M11, disrupts interaction with BCL2 and decreases interaction with BCL2L1 isoform Bcl-X(L). 4 Publications1
Mutagenesisi133D → A: Abolishes in vitro cleavage by CASP3 and CASP8; when associated with A-149. 1 Publication1
Mutagenesisi133D → A: Abolishes in vitro cleavage by CASP8; when associated with A-146. 1 Publication1
Mutagenesisi146D → A: Abolishes in vitro cleavage by CASP8; when associated with A-133. 1 Publication1
Mutagenesisi149D → A: Abolishes in vitro cleavage by CASP3 and CASP8; when associated with A-133. 1 Publication1
Mutagenesisi149D → E: Abolishes in vitro cleavage by CASP3. 1 Publication1
Mutagenesisi352Y → A: Significantly reduces ubiquitination. 1 Publication1
Mutagenesisi402K → R: Decreases K48 polyubiquitination and stabilizes BECN1. 1 Publication1
Mutagenesisi425W → A: Decrease in membrane-association. 1 Publication1

Organism-specific databases

DisGeNETi8678
OpenTargetsiENSG00000126581
PharmGKBiPA25337

Polymorphism and mutation databases

BioMutaiBECN1
DMDMi13124704

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002185551 – 450Beclin-1Add BLAST450
ChainiPRO_0000435036134 – 450Beclin-1-C 37 kDa1 PublicationAdd BLAST317
ChainiPRO_0000435037150 – 450Beclin-1-C 35 kDa2 PublicationsAdd BLAST301

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei30PhosphoserineCombined sources1
Modified residuei90Phosphoserine; by AMPK1 Publication1
Modified residuei93Phosphoserine; by AMPK1 Publication1
Modified residuei96Phosphoserine; by AMPKBy similarity1
Modified residuei119Phosphothreonine; by DAPK11 Publication1
Cross-linki402Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Post-translational modificationi

Phosphorylation at Thr-119 by DAPK1 reduces its interaction with BCL2 and BCL2L1 and promotes induction of autophagy (PubMed:19180116). In response to autophagic stimuli, phosphorylated at serine residues by AMPK in an ATG14-dependent manner, and this phosphorylation is critical for maximally efficient autophagy (PubMed:23878393).2 Publications
Polyubiquitinated by NEDD4, both with 'Lys-11'- and 'Lys-63'-linkages (PubMed:21936852). 'Lys-11'-linked polyubiquitination leads to degradation and is enhanced when the stabilizing interaction partner VPS34 is depleted (PubMed:21936852). Deubiquitinated by USP10 and USP13, leading to stabilize the PIK3C3/VPS34-containing complexes (PubMed:21962518). Polyubiquitinated at Lys-402 with 'Lys-48'-linkages (PubMed:28445460). 'Lys-48'-linked polyubiquitination of Lys-402 leads to degradation (PubMed:28445460). Deubiquitinated by ATXN3, leading to stabilization (PubMed:28445460).3 Publications
Proteolytically processed by caspases including CASP8 and CASP3; the C-terminal fragments lack autophagy-inducing capacity and are proposed to induce apoptosis. Thus the cleavage is proposed to be an determinant to switch from autophagy to apoptosis pathways affecting cellular homeostasis including viral infections and survival of tumor cells.2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14457
MaxQBiQ14457
PaxDbiQ14457
PeptideAtlasiQ14457
PRIDEiQ14457
ProteomicsDBi59999

PTM databases

iPTMnetiQ14457
PhosphoSitePlusiQ14457

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000126581 Expressed in 232 organ(s), highest expression level in frontal cortex
CleanExiHS_BECN1
ExpressionAtlasiQ14457 baseline and differential
GenevisibleiQ14457 HS

Organism-specific databases

HPAiCAB010143
HPA028949

Interactioni

Subunit structurei

A homodimeric form is proposed to exist; this metastable form readily transits to ATG14- or UVRAG-containing complexes with BECN1:UVRAG being more stable than BECN1:ATG14 (By similarity). Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex the core of which is composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 associating with additional regulatory/auxilliary subunits to form alternative complex forms. Alternative complex forms containing a forth regulatory subunit in a mutually exclusive manner are PI3K complex I (PI3KC3-C1) containing ATG14, and PI3K complex II (PI3KC3-C2) containing UVRAG. PI3KC3-C1 displays a V-shaped architecture with PIK3R4 serving as a bridge between PIK3C3 and the ATG14:BECN1 subcomplex (PubMed:18843052, PubMed:19050071, PubMed:19270696, PubMed:23878393, PubMed:25490155). Both, PI3KC3-C1 and PI3KC3-C2, can associate with further regulatory subunits, such as RUBCN, SH3GLB1/Bif-1 and AMBRA1 (PubMed:20643123, PubMed:19270696). PI3KC3-C1 probably associates with PIK3CB (By similarity). Interacts with AMBRA1, GOPC, GRID2 (By similarity). Interacts with BCL2 and BCL2L1 isoform Bcl-X(L); the interaction inhibits BECN1 function in promoting autophagy by interfering with the formation of the PI3K complex (PubMed:9765397, PubMed:16179260, PubMed:17446862, PubMed:17337444, PubMed:17659302). Interacts with cytosolic HMGB1; inhibits the interaction of BECN1 and BCL2 leading to promotion of autophagy (PubMed:20819940). Interacts with USP10, USP13, VMP1, DAPK1, RAB39A (PubMed:19180116, PubMed:17724469, PubMed:17337444, PubMed:21962518, PubMed:24349490). Interacts with the poly-Gln domain of ATXN3; the interaction causes deubiquitination at Lys-402 and stabilizes BECN1 (PubMed:28445460). Interacts with SLAMF1 (PubMed:22493499). Interacts with TRIM5; the interaction causes activation of BECN1 by causing its dissociation from its inhibitors BCL2 and TAB2 (PubMed:25127057). Interacts with active ULK1 (phosphorylated on 'Ser-317') and MEFV simultaneously (PubMed:26347139). Interacts with WDR81 and WDR91; negatively regulates the PI3 kinase/PI3K activity associated with endosomal membranes (PubMed:26783301). Interacts with LAPTM4B; competes with EGFR for LAPTM4B binding; regulates EGFR activity (PubMed:28479384). Interacts with TRIM50 (PubMed:29604308). Interacts with TRIM16.By similarityCurated26 Publications
(Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein TRS1.1 Publication
(Microbial infection) Interacts with murine gammaherpesvirus 68 M11.2 Publications
(Microbial infection) Interacts with herpes simplex virus 1 (HHV-1) protein ICP34.5; this interaction antagonizes the host autophagy response.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114226, 94 interactors
ComplexPortaliCPX-73 Phosphatidylinositol 3-kinase complex, class III, ATG14 variant
CPX-74 Phosphatidylinositol 3-kinase complex, class III, UVRAG variant
CORUMiQ14457
DIPiDIP-44611N
ELMiQ14457
IntActiQ14457, 111 interactors
MINTiQ14457
STRINGi9606.ENSP00000355231

Structurei

Secondary structure

1450
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14457
SMRiQ14457
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14457

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni112 – 159Interaction with BCL2 and BCL2L1 isoform Bcl-X(L)1 PublicationAdd BLAST48
Regioni245 – 450Evolutionary conserved domain (ECD)1 PublicationAdd BLAST206
Regioni425 – 450Required for membrane-association1 PublicationAdd BLAST26

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili142 – 270Sequence analysisAdd BLAST129

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi108 – 127BH3Add BLAST20

Domaini

The coiled coil domain can form antiparallel homodimers and mediates dimerization with the coiled coil domains of ATG14 or UVRAG involved in the formation of PI3K complexes.By similarity
The C-terminal evolutionary conserved domain (ECD) contains poly-Gln-binding domains such as the ATXN3 poly-Gln motif, consistent with structural docking models revealing two highly scored poly-Gln-binding pockets in the ECD (PubMed:28445460). As some binding is observed with BECN1 lacking the ECD, other domains of BECN1 may also interact with ATXN3 (PubMed:28445460).1 Publication

Sequence similaritiesi

Belongs to the beclin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2751 Eukaryota
ENOG410XQ85 LUCA
GeneTreeiENSGT00390000008164
HOGENOMiHOG000158093
HOVERGENiHBG003181
InParanoidiQ14457
KOiK08334
OMAiYIPPARM
OrthoDBiEOG091G0COC
PhylomeDBiQ14457
TreeFamiTF314282

Family and domain databases

Gene3Di1.10.418.40, 1 hit
InterProiView protein in InterPro
IPR007243 Atg6/Beclin
IPR038274 Atg6/Beclin_C_sf
IPR032913 BECN1
IPR029318 BH3_dom
PANTHERiPTHR12768 PTHR12768, 1 hit
PTHR12768:SF6 PTHR12768:SF6, 1 hit
PfamiView protein in Pfam
PF04111 APG6, 1 hit
PF15285 BH3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

Q14457-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEGSKTSNNS TMQVSFVCQR CSQPLKLDTS FKILDRVTIQ ELTAPLLTTA
60 70 80 90 100
QAKPGETQEE ETNSGEEPFI ETPRQDGVSR RFIPPARMMS TESANSFTLI
110 120 130 140 150
GEASDGGTME NLSRRLKVTG DLFDIMSGQT DVDHPLCEEC TDTLLDQLDT
160 170 180 190 200
QLNVTENECQ NYKRCLEILE QMNEDDSEQL QMELKELALE EERLIQELED
210 220 230 240 250
VEKNRKIVAE NLEKVQAEAE RLDQEEAQYQ REYSEFKRQQ LELDDELKSV
260 270 280 290 300
ENQMRYAQTQ LDKLKKTNVF NATFHIWHSG QFGTINNFRL GRLPSVPVEW
310 320 330 340 350
NEINAAWGQT VLLLHALANK MGLKFQRYRL VPYGNHSYLE SLTDKSKELP
360 370 380 390 400
LYCSGGLRFF WDNKFDHAMV AFLDCVQQFK EEVEKGETRF CLPYRMDVEK
410 420 430 440 450
GKIEDTGGSG GSYSIKTQFN SEEQWTKALK FMLTNLKWGL AWVSSQFYNK
Length:450
Mass (Da):51,896
Last modified:February 21, 2001 - v2
Checksum:iABF0C2DD7087473C
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EV84E7EV84_HUMAN
Beclin-1
BECN1
279Annotation score:
K7ER46K7ER46_HUMAN
Beclin-1
BECN1
132Annotation score:
K7ELY9K7ELY9_HUMAN
Beclin-1
BECN1
229Annotation score:
K7EN35K7EN35_HUMAN
Beclin-1
BECN1
176Annotation score:
K7EMA2K7EMA2_HUMAN
Beclin-1
BECN1
106Annotation score:
K7EQQ7K7EQQ7_HUMAN
Beclin-1
BECN1
59Annotation score:
K7ERY0K7ERY0_HUMAN
Beclin-1
BECN1
72Annotation score:
K7EKK2K7EKK2_HUMAN
Beclin-1
BECN1
76Annotation score:
K7ES83K7ES83_HUMAN
Beclin-1
BECN1
109Annotation score:
A0A087WVZ2A0A087WVZ2_HUMAN
Beclin-1
BECN1
20Annotation score:
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti150T → A in AAB59573 (PubMed:7490091).Curated1
Sequence conflicti161N → S in BAG35534 (PubMed:14702039).Curated1
Sequence conflicti314L → H in BAG35534 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010384103A → V. 1
Natural variantiVAR_005236403I → T. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077301 mRNA Translation: AAC68653.1
AF139131 mRNA Translation: AAD27650.1
AK312651 mRNA Translation: BAG35534.1
BC010276 mRNA Translation: AAH10276.1
L38932 mRNA Translation: AAB59573.1
CCDSiCCDS11441.1
PIRiI54209
RefSeqiNP_001300927.1, NM_001313998.1
NP_001300928.1, NM_001313999.1
NP_001300929.1, NM_001314000.1
NP_003757.1, NM_003766.4
UniGeneiHs.716464

Genome annotation databases

EnsembliENST00000361523; ENSP00000355231; ENSG00000126581
ENST00000590099; ENSP00000465364; ENSG00000126581
GeneIDi8678
KEGGihsa:8678
UCSCiuc002ibn.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077301 mRNA Translation: AAC68653.1
AF139131 mRNA Translation: AAD27650.1
AK312651 mRNA Translation: BAG35534.1
BC010276 mRNA Translation: AAH10276.1
L38932 mRNA Translation: AAB59573.1
CCDSiCCDS11441.1
PIRiI54209
RefSeqiNP_001300927.1, NM_001313998.1
NP_001300928.1, NM_001313999.1
NP_001300929.1, NM_001314000.1
NP_003757.1, NM_003766.4
UniGeneiHs.716464

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2P1LX-ray2.50B/D/F/H107-135[»]
2PONNMR-A106-128[»]
3DVUX-ray2.50C/D105-130[»]
4DDPX-ray1.55A241-450[»]
4MI8X-ray2.10C/D107-130[»]
5EFMX-ray1.95A141-171[»]
5HHEX-ray1.46A/D175-265[»]
5VAUX-ray1.75E/F/G/H105-130[»]
5VAXX-ray2.00E/F/G/H105-130[»]
5VAYX-ray1.80E/F/G/H105-130[»]
6DCNX-ray2.44C/D105-130[»]
6DCOX-ray2.20C/D105-130[»]
ProteinModelPortaliQ14457
SMRiQ14457
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114226, 94 interactors
ComplexPortaliCPX-73 Phosphatidylinositol 3-kinase complex, class III, ATG14 variant
CPX-74 Phosphatidylinositol 3-kinase complex, class III, UVRAG variant
CORUMiQ14457
DIPiDIP-44611N
ELMiQ14457
IntActiQ14457, 111 interactors
MINTiQ14457
STRINGi9606.ENSP00000355231

Protein family/group databases

MoonDBiQ14457 Predicted

PTM databases

iPTMnetiQ14457
PhosphoSitePlusiQ14457

Polymorphism and mutation databases

BioMutaiBECN1
DMDMi13124704

Proteomic databases

EPDiQ14457
MaxQBiQ14457
PaxDbiQ14457
PeptideAtlasiQ14457
PRIDEiQ14457
ProteomicsDBi59999

Protocols and materials databases

DNASUi8678
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361523; ENSP00000355231; ENSG00000126581
ENST00000590099; ENSP00000465364; ENSG00000126581
GeneIDi8678
KEGGihsa:8678
UCSCiuc002ibn.3 human

Organism-specific databases

CTDi8678
DisGeNETi8678
EuPathDBiHostDB:ENSG00000126581.12
GeneCardsiBECN1
HGNCiHGNC:1034 BECN1
HPAiCAB010143
HPA028949
MIMi604378 gene
neXtProtiNX_Q14457
OpenTargetsiENSG00000126581
PharmGKBiPA25337
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2751 Eukaryota
ENOG410XQ85 LUCA
GeneTreeiENSGT00390000008164
HOGENOMiHOG000158093
HOVERGENiHBG003181
InParanoidiQ14457
KOiK08334
OMAiYIPPARM
OrthoDBiEOG091G0COC
PhylomeDBiQ14457
TreeFamiTF314282

Enzyme and pathway databases

ReactomeiR-HSA-1632852 Macroautophagy
R-HSA-5689880 Ub-specific processing proteases
SIGNORiQ14457

Miscellaneous databases

ChiTaRSiBECN1 human
EvolutionaryTraceiQ14457
GeneWikiiBECN1
GenomeRNAii8678
PROiPR:Q14457
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126581 Expressed in 232 organ(s), highest expression level in frontal cortex
CleanExiHS_BECN1
ExpressionAtlasiQ14457 baseline and differential
GenevisibleiQ14457 HS

Family and domain databases

Gene3Di1.10.418.40, 1 hit
InterProiView protein in InterPro
IPR007243 Atg6/Beclin
IPR038274 Atg6/Beclin_C_sf
IPR032913 BECN1
IPR029318 BH3_dom
PANTHERiPTHR12768 PTHR12768, 1 hit
PTHR12768:SF6 PTHR12768:SF6, 1 hit
PfamiView protein in Pfam
PF04111 APG6, 1 hit
PF15285 BH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBECN1_HUMAN
AccessioniPrimary (citable) accession number: Q14457
Secondary accession number(s): B2R6N7, O75595, Q9UNA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 21, 2001
Last modified: November 7, 2018
This is version 184 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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