UniProtKB - P11117 (PPAL_HUMAN)
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Protein
Lysosomal acid phosphatase
Gene
ACP2
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
A phosphate monoester + H2O = an alcohol + phosphate.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Active sitei | 42 | NucleophileBy similarity | 1 | |
| Active sitei | 287 | Proton donorBy similarity | 1 |
GO - Molecular functioni
- acid phosphatase activity Source: ProtInc
GO - Biological processi
- lysosome organization Source: Ensembl
- skeletal system development Source: Ensembl
Keywordsi
| Molecular function | Hydrolase |
Names & Taxonomyi
| Protein namesi | |
| Gene namesi | Name:ACP2 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| HGNCi | HGNC:123. ACP2. |
Subcellular locationi
- Lysosome membrane 2 Publications; Single-pass membrane protein Sequence analysis; Lumenal side 2 Publications
- Lysosome lumen
Note: The soluble form arises by proteolytic processing of the membrane-bound form.2 Publications
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Topological domaini | 31 – 380 | LumenalSequence analysisAdd BLAST | 350 | |
| Transmembranei | 381 – 401 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 402 – 423 | CytoplasmicSequence analysisAdd BLAST | 22 |
GO - Cellular componenti
- extracellular exosome Source: UniProtKB
- integral component of membrane Source: ProtInc
- lysosomal lumen Source: UniProtKB-SubCell
- lysosomal membrane Source: UniProtKB-SubCell
- lysosome Source: MGI
- membrane Source: UniProtKB
Keywords - Cellular componenti
Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Lysosomal acid phosphatase has been shown to be deficient in cultured fibroblasts from patients manifesting intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding and death in early infancy.1 Publication
Organism-specific databases
| DisGeNETi | 53. |
| MalaCardsi | ACP2. |
| OpenTargetsi | ENSG00000134575. |
| Orphaneti | 35121. Acid phosphatase deficiency. |
| PharmGKBi | PA24447. |
Polymorphism and mutation databases
| BioMutai | ACP2. |
| DMDMi | 115502439. |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Signal peptidei | 1 – 30 | Add BLAST | 30 | |
| ChainiPRO_0000023960 | 31 – 423 | Lysosomal acid phosphataseAdd BLAST | 393 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Glycosylationi | 92 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Glycosylationi | 133 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Disulfide bondi | 159 ↔ 370 | By similarity | ||
| Glycosylationi | 167 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Glycosylationi | 177 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Glycosylationi | 191 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Disulfide bondi | 212 ↔ 310 | By similarity | ||
| Glycosylationi | 267 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Glycosylationi | 322 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Glycosylationi | 331 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
| Disulfide bondi | 345 ↔ 349 | By similarity |
Post-translational modificationi
The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen.2 Publications
N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.2 Publications
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
| EPDi | P11117. |
| MaxQBi | P11117. |
| PaxDbi | P11117. |
| PeptideAtlasi | P11117. |
| PRIDEi | P11117. |
| TopDownProteomicsi | P11117-1. [P11117-1] |
PTM databases
| DEPODi | P11117. |
| iPTMneti | P11117. |
| PhosphoSitePlusi | P11117. |
Expressioni
Gene expression databases
| Bgeei | ENSG00000134575. |
| CleanExi | HS_ACP2. |
| ExpressionAtlasi | P11117. baseline and differential. |
| Genevisiblei | P11117. HS. |
Interactioni
Protein-protein interaction databases
| BioGridi | 106569. 36 interactors. |
| IntActi | P11117. 2 interactors. |
| STRINGi | 9606.ENSP00000256997. |
Structurei
3D structure databases
| ProteinModelPortali | P11117. |
| SMRi | P11117. |
| ModBasei | Search... |
| MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the histidine acid phosphatase family.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
| eggNOGi | KOG3720. Eukaryota. ENOG410ZVBQ. LUCA. |
| GeneTreei | ENSGT00530000062956. |
| HOGENOMi | HOG000231439. |
| HOVERGENi | HBG002203. |
| InParanoidi | P11117. |
| KOi | K14410. |
| OMAi | FLHLTEP. |
| OrthoDBi | EOG091G09FA. |
| PhylomeDBi | P11117. |
| TreeFami | TF312893. |
Family and domain databases
| CDDi | cd07061. HP_HAP_like. 1 hit. |
| Gene3Di | 3.40.50.1240. 1 hit. |
| InterProi | View protein in InterPro IPR033379. Acid_Pase_AS. IPR000560. His_Pase_clade-2. IPR029033. His_PPase_superfam. |
| Pfami | View protein in Pfam PF00328. His_Phos_2. 1 hit. |
| SUPFAMi | SSF53254. SSF53254. 1 hit. |
| PROSITEi | View protein in PROSITE PS00616. HIS_ACID_PHOSPHAT_1. 1 hit. PS00778. HIS_ACID_PHOSPHAT_2. 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
Isoform 1 (identifier: P11117-1) [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.
10 20 30 40 50
MAGKRSGWSR AALLQLLLGV NLVVMPPTRA RSLRFVTLLY RHGDRSPVKT
60 70 80 90 100
YPKDPYQEEE WPQGFGQLTK EGMLQHWELG QALRQRYHGF LNTSYHRQEV
110 120 130 140 150
YVRSTDFDRT LMSAEANLAG LFPPNGMQRF NPNISWQPIP VHTVPITEDR
160 170 180 190 200
LLKFPLGPCP RYEQLQNETR QTPEYQNESS RNAQFLDMVA NETGLTDLTL
210 220 230 240 250
ETVWNVYDTL FCEQTHGLRL PPWASPQTMQ RLSRLKDFSF RFLFGIYQQA
260 270 280 290 300
EKARLQGGVL LAQIRKNLTL MATTSQLPKL LVYSAHDTTL VALQMALDVY
310 320 330 340 350
NGEQAPYASC HIFELYQEDS GNFSVEMYFR NESDKAPWPL SLPGCPHRCP
360 370 380 390 400
LQDFLRLTEP VVPKDWQQEC QLASGPADTE VIVALAVCGS ILFLLIVLLL
410 420
TVLFRMQAQP PGYRHVADGE DHA
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_027801 | 29 | R → Q2 PublicationsCorresponds to variant dbSNP:rs2167079Ensembl. | 1 | |
| Natural variantiVAR_034394 | 320 | S → F. Corresponds to variant dbSNP:rs34425282Ensembl. | 1 | |
| Natural variantiVAR_050519 | 402 | V → I. Corresponds to variant dbSNP:rs4647764Ensembl. | 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Alternative sequenceiVSP_045629 | 151 – 160 | LLKFPLGPCP → VRVASPSLGW in isoform 2. 1 Publication | 10 | |
| Alternative sequenceiVSP_045630 | 161 – 423 | Missing in isoform 2. 1 PublicationAdd BLAST | 263 |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X12548 mRNA. Translation: CAA31064.1. X15525 X15535 Genomic DNA. Translation: CAA33542.1. DA382854 mRNA. No translation available. AC018410 Genomic DNA. No translation available. BC003160 mRNA. Translation: AAH03160.1. BC093010 mRNA. Translation: AAH93010.1. |
| CCDSi | CCDS7928.1. [P11117-1] |
| PIRi | S06167. |
| RefSeqi | NP_001289418.1. NM_001302489.1. NP_001289419.1. NM_001302490.1. NP_001289420.1. NM_001302491.1. NP_001289421.1. NM_001302492.1. NP_001601.1. NM_001610.3. [P11117-1] |
| UniGenei | Hs.532492. |
Genome annotation databases
| Ensembli | ENST00000256997; ENSP00000256997; ENSG00000134575. [P11117-1] |
| GeneIDi | 53. |
| KEGGi | hsa:53. |
| UCSCi | uc001nei.3. human. [P11117-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar 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. |
Entry informationi
| Entry namei | PPAL_HUMAN | |
| Accessioni | P11117Primary (citable) accession number: P11117 Secondary accession number(s): E9PCI1, Q561W5, Q9BTU7 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1989 |
| Last sequence update: | October 3, 2006 | |
| Last modified: | May 10, 2017 | |
| This is version 166 of the entry and version 3 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families
