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Protein

Palmitoyl-protein thioesterase 1

Gene

PPT1

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

Functioni

Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748).1 Publication

Catalytic activityi

Palmitoyl-[protein] + H2O = palmitate + [protein].By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei115By similarity1
Active sitei233By similarity1
Active sitei289By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processSensory transduction, Vision

Enzyme and pathway databases

BRENDAi3.1.2.2 2681
3.1.2.22 2681
ReactomeiR-HSA-75105 Fatty acyl-CoA biosynthesis

Protein family/group databases

ESTHERihuman-PPT1 Palmitoyl-protein_thioesterase

Names & Taxonomyi

Protein namesi
Recommended name:
Palmitoyl-protein thioesterase 1 (EC:3.1.2.22)
Short name:
PPT-1
Alternative name(s):
Palmitoyl-protein hydrolase 1
Gene namesi
Name:PPT1
Synonyms:CLN11 Publication, PPT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000131238.16
HGNCiHGNC:9325 PPT1
MIMi600722 gene
neXtProtiNX_P50897

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

Lysosome, Secreted

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 1 (CLN1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).
See also OMIM:256730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05843438W → C in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833626EnsemblClinVar.1
Natural variantiVAR_00554839H → Q in CLN1. Corresponds to variant dbSNP:rs386833627EnsemblClinVar.1
Natural variantiVAR_00554942G → E in CLN1. Corresponds to variant dbSNP:rs386833631EnsemblClinVar.1
Natural variantiVAR_06687445C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs137852702EnsemblClinVar.1
Natural variantiVAR_00555075T → P in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852696EnsemblClinVar.1
Natural variantiVAR_00555179D → G in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852697EnsemblClinVar.1
Natural variantiVAR_018511108G → R in CLN1; onset in adulthood; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs137852701EnsemblClinVar.1
Natural variantiVAR_005552109Y → D in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833642EnsemblClinVar.1
Natural variantiVAR_005553122R → W in CLN1; retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs137852695EnsemblClinVar.1
Natural variantiVAR_066875138S → L in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833646EnsemblClinVar.1
Natural variantiVAR_066876152C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833647EnsemblClinVar.1
Natural variantiVAR_005555177Q → E in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833650EnsemblClinVar.1
Natural variantiVAR_005556181V → L in CLN1. Corresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_005557181V → M in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_066877187H → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833657EnsemblClinVar.1
Natural variantiVAR_066878189P → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833658EnsemblClinVar.1
Natural variantiVAR_005558219L → Q in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852698EnsemblClinVar.1
Natural variantiVAR_066879222L → P in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833661EnsemblClinVar.1
Natural variantiVAR_066880228V → G in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833663EnsemblClinVar.1
Natural variantiVAR_005559247Y → H in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833665EnsemblClinVar.1
Natural variantiVAR_005560250G → V in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833666EnsemblClinVar.1
Natural variantiVAR_066881296W → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833669EnsemblClinVar.1
Natural variantiVAR_066882305L → P in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833671EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNETi5538
GeneReviewsiPPT1
MalaCardsiPPT1
MIMi256730 phenotype
OpenTargetsiENSG00000131238
Orphaneti228329 CLN1 disease
PharmGKBiPA33688

Chemistry databases

ChEMBLiCHEMBL2331051
DrugBankiDB02035 1-Hexadecylsulfonyl Fluoride
DB03796 Palmitic Acid

Polymorphism and mutation databases

BioMutaiPPT1
DMDMi1709747

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Combined sourcesAdd BLAST27
ChainiPRO_000002555028 – 306Palmitoyl-protein thioesterase 1Add BLAST279

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi45 ↔ 461 Publication
Disulfide bondi96 ↔ 1281 Publication
Disulfide bondi152 ↔ 1601 Publication
Glycosylationi197N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi212N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi232N-linked (GlcNAc...) asparagine2 Publications1

Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP50897
PaxDbiP50897
PeptideAtlasiP50897
PRIDEiP50897
ProteomicsDBi56269
56270 [P50897-2]

PTM databases

GlyConnecti1592
iPTMnetiP50897
PhosphoSitePlusiP50897
SwissPalmiP50897

Expressioni

Gene expression databases

BgeeiENSG00000131238 Expressed in 244 organ(s), highest expression level in blood
CleanExiHS_PPT1
ExpressionAtlasiP50897 baseline and differential
GenevisibleiP50897 HS

Organism-specific databases

HPAiHPA021546

Interactioni

Subunit structurei

Interacts with CLN5 (PubMed:19941651). Interacts with ATP5F1A and ATP5F1B (By similarity).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ORF38Q76RH32EBI-1237011,EBI-14033513From Human herpesvirus 8.

Protein-protein interaction databases

BioGridi111530, 38 interactors
IntActiP50897, 11 interactors
STRINGi9606.ENSP00000394863

Chemistry databases

BindingDBiP50897

Structurei

Secondary structure

1306
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP50897
SMRiP50897
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50897

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2541 Eukaryota
COG1075 LUCA
GeneTreeiENSGT00530000063368
HOGENOMiHOG000199232
HOVERGENiHBG018186
InParanoidiP50897
KOiK01074
OMAiGFFIHPN
OrthoDBiEOG091G0HJH
PhylomeDBiP50897
TreeFamiTF323926

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR002472 Palm_thioest
IPR030294 PPT1
PANTHERiPTHR11247:SF8 PTHR11247:SF8, 1 hit
PfamiView protein in Pfam
PF02089 Palm_thioest, 1 hit
PRINTSiPR00414 PPTHIESTRASE
SUPFAMiSSF53474 SSF53474, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50897-1) [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
MASPGCLWLL AVALLPWTCA SRALQHLDPP APLPLVIWHG MGDSCCNPLS
60 70 80 90 100
MGAIKKMVEK KIPGIYVLSL EIGKTLMEDV ENSFFLNVNS QVTTVCQALA
110 120 130 140 150
KDPKLQQGYN AMGFSQGGQF LRAVAQRCPS PPMINLISVG GQHQGVFGLP
160 170 180 190 200
RCPGESSHIC DFIRKTLNAG AYSKVVQERL VQAEYWHDPI KEDVYRNHSI
210 220 230 240 250
FLADINQERG INESYKKNLM ALKKFVMVKF LNDSIVDPVD SEWFGFYRSG
260 270 280 290 300
QAKETIPLQE TSLYTQDRLG LKEMDNAGQL VFLATEGDHL QLSEEWFYAH

IIPFLG
Length:306
Mass (Da):34,193
Last modified:October 1, 1996 - v1
Checksum:i69F8083FD1C15E92
GO
Isoform 2 (identifier: P50897-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     42-144: Missing.

Note: No experimental confirmation available.
Show »
Length:203
Mass (Da):23,094
Checksum:iC73DB3FEBDEC8F32
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T0S4Q5T0S4_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
282Annotation score:
E9PK48E9PK48_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
148Annotation score:
E9PIA8E9PIA8_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
208Annotation score:
A0A2C9F2P4A0A2C9F2P4_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
305Annotation score:
A0A286YFE3A0A286YFE3_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
301Annotation score:
A0A286YFF7A0A286YFF7_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
335Annotation score:
A0A286YFL8A0A286YFL8_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
323Annotation score:
E9PSE5E9PSE5_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
87Annotation score:
E9PMG2E9PMG2_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
55Annotation score:
A0A286YFL6A0A286YFL6_HUMAN
Palmitoyl-protein thioesterase 1
PPT1
78Annotation score:
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05843438W → C in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833626EnsemblClinVar.1
Natural variantiVAR_00554839H → Q in CLN1. Corresponds to variant dbSNP:rs386833627EnsemblClinVar.1
Natural variantiVAR_00554942G → E in CLN1. Corresponds to variant dbSNP:rs386833631EnsemblClinVar.1
Natural variantiVAR_06687445C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs137852702EnsemblClinVar.1
Natural variantiVAR_00555075T → P in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852696EnsemblClinVar.1
Natural variantiVAR_00555179D → G in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852697EnsemblClinVar.1
Natural variantiVAR_018511108G → R in CLN1; onset in adulthood; retained in the endoplasmic reticulum rather than reaching the lysosome. 3 PublicationsCorresponds to variant dbSNP:rs137852701EnsemblClinVar.1
Natural variantiVAR_005552109Y → D in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833642EnsemblClinVar.1
Natural variantiVAR_005553122R → W in CLN1; retained in the endoplasmic reticulum rather than reaching the lysosome. 2 PublicationsCorresponds to variant dbSNP:rs137852695EnsemblClinVar.1
Natural variantiVAR_005554134I → T1 PublicationCorresponds to variant dbSNP:rs1800205EnsemblClinVar.1
Natural variantiVAR_066875138S → L in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833646EnsemblClinVar.1
Natural variantiVAR_066876152C → Y in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833647EnsemblClinVar.1
Natural variantiVAR_005555177Q → E in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833650EnsemblClinVar.1
Natural variantiVAR_005556181V → L in CLN1. Corresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_005557181V → M in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs148412181EnsemblClinVar.1
Natural variantiVAR_066877187H → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833657EnsemblClinVar.1
Natural variantiVAR_066878189P → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833658EnsemblClinVar.1
Natural variantiVAR_005558219L → Q in CLN1; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs137852698EnsemblClinVar.1
Natural variantiVAR_066879222L → P in CLN1; late infantile form. 1 PublicationCorresponds to variant dbSNP:rs386833661EnsemblClinVar.1
Natural variantiVAR_066880228V → G in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833663EnsemblClinVar.1
Natural variantiVAR_005559247Y → H in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833665EnsemblClinVar.1
Natural variantiVAR_005560250G → V in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833666EnsemblClinVar.1
Natural variantiVAR_066881296W → R in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833669EnsemblClinVar.1
Natural variantiVAR_066882305L → P in CLN1. 1 PublicationCorresponds to variant dbSNP:rs386833671EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04203342 – 144Missing in isoform 2. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42809 Genomic DNA Translation: AAA85337.1
U44772 mRNA Translation: AAB06236.1
AF022211
, AF022203, AF022204, AF022205, AF022206, AF022207, AF022208, AF022209, AF022210 Genomic DNA Translation: AAB72224.1
AK302232 mRNA Translation: BAG63586.1
AK312287 mRNA Translation: BAG35214.1
CR542053 mRNA Translation: CAG46850.1
AL512599 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07237.1
CH471059 Genomic DNA Translation: EAX07238.1
BC008426 mRNA Translation: AAH08426.1
CCDSiCCDS44119.1 [P50897-2]
CCDS447.1 [P50897-1]
PIRiI58097
RefSeqiNP_000301.1, NM_000310.3 [P50897-1]
NP_001136076.1, NM_001142604.1 [P50897-2]
UniGeneiHs.3873

Genome annotation databases

EnsembliENST00000449045; ENSP00000392293; ENSG00000131238 [P50897-2]
ENST00000529905; ENSP00000432053; ENSG00000131238 [P50897-1]
ENST00000642050; ENSP00000493153; ENSG00000131238 [P50897-1]
GeneIDi5538
KEGGihsa:5538
UCSCiuc001cfb.3 human [P50897-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NCL CLN1

Neural Ceroid Lipofuscinoses mutation db

Mutations of the PPT1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42809 Genomic DNA Translation: AAA85337.1
U44772 mRNA Translation: AAB06236.1
AF022211
, AF022203, AF022204, AF022205, AF022206, AF022207, AF022208, AF022209, AF022210 Genomic DNA Translation: AAB72224.1
AK302232 mRNA Translation: BAG63586.1
AK312287 mRNA Translation: BAG35214.1
CR542053 mRNA Translation: CAG46850.1
AL512599 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07237.1
CH471059 Genomic DNA Translation: EAX07238.1
BC008426 mRNA Translation: AAH08426.1
CCDSiCCDS44119.1 [P50897-2]
CCDS447.1 [P50897-1]
PIRiI58097
RefSeqiNP_000301.1, NM_000310.3 [P50897-1]
NP_001136076.1, NM_001142604.1 [P50897-2]
UniGeneiHs.3873

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3GROX-ray2.53A/B22-306[»]
ProteinModelPortaliP50897
SMRiP50897
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111530, 38 interactors
IntActiP50897, 11 interactors
STRINGi9606.ENSP00000394863

Chemistry databases

BindingDBiP50897
ChEMBLiCHEMBL2331051
DrugBankiDB02035 1-Hexadecylsulfonyl Fluoride
DB03796 Palmitic Acid

Protein family/group databases

ESTHERihuman-PPT1 Palmitoyl-protein_thioesterase

PTM databases

GlyConnecti1592
iPTMnetiP50897
PhosphoSitePlusiP50897
SwissPalmiP50897

Polymorphism and mutation databases

BioMutaiPPT1
DMDMi1709747

Proteomic databases

EPDiP50897
PaxDbiP50897
PeptideAtlasiP50897
PRIDEiP50897
ProteomicsDBi56269
56270 [P50897-2]

Protocols and materials databases

DNASUi5538
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000449045; ENSP00000392293; ENSG00000131238 [P50897-2]
ENST00000529905; ENSP00000432053; ENSG00000131238 [P50897-1]
ENST00000642050; ENSP00000493153; ENSG00000131238 [P50897-1]
GeneIDi5538
KEGGihsa:5538
UCSCiuc001cfb.3 human [P50897-1]

Organism-specific databases

CTDi5538
DisGeNETi5538
EuPathDBiHostDB:ENSG00000131238.16
GeneCardsiPPT1
GeneReviewsiPPT1
HGNCiHGNC:9325 PPT1
HPAiHPA021546
MalaCardsiPPT1
MIMi256730 phenotype
600722 gene
neXtProtiNX_P50897
OpenTargetsiENSG00000131238
Orphaneti228329 CLN1 disease
PharmGKBiPA33688
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2541 Eukaryota
COG1075 LUCA
GeneTreeiENSGT00530000063368
HOGENOMiHOG000199232
HOVERGENiHBG018186
InParanoidiP50897
KOiK01074
OMAiGFFIHPN
OrthoDBiEOG091G0HJH
PhylomeDBiP50897
TreeFamiTF323926

Enzyme and pathway databases

BRENDAi3.1.2.2 2681
3.1.2.22 2681
ReactomeiR-HSA-75105 Fatty acyl-CoA biosynthesis

Miscellaneous databases

ChiTaRSiPPT1 human
EvolutionaryTraceiP50897
GeneWikiiPPT1
GenomeRNAii5538
PROiPR:P50897
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131238 Expressed in 244 organ(s), highest expression level in blood
CleanExiHS_PPT1
ExpressionAtlasiP50897 baseline and differential
GenevisibleiP50897 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR002472 Palm_thioest
IPR030294 PPT1
PANTHERiPTHR11247:SF8 PTHR11247:SF8, 1 hit
PfamiView protein in Pfam
PF02089 Palm_thioest, 1 hit
PRINTSiPR00414 PPTHIESTRASE
SUPFAMiSSF53474 SSF53474, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPPT1_HUMAN
AccessioniPrimary (citable) accession number: P50897
Secondary accession number(s): B4DY24, Q6FGQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 186 of the entry and version 1 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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