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UniProtKB - P11117 (PPAL_HUMAN)

Protein

Lysosomal acid phosphatase

Gene

ACP2

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

Functioni

Catalytic activityi

A phosphate monoester + H2O = an alcohol + phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei42NucleophileBy similarity1
Active sitei287Proton donorBy similarity1

GO - Molecular functioni

  • acid phosphatase activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosomal acid phosphatase (EC:3.1.3.2)
Short name:
LAP
Gene namesi
Name:ACP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000134575.9
HGNCiHGNC:123 ACP2
MIMi171650 gene
neXtProtiNX_P11117

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini31 – 380LumenalSequence analysisAdd BLAST350
Transmembranei381 – 401HelicalSequence analysisAdd BLAST21
Topological domaini402 – 423CytoplasmicSequence analysisAdd BLAST22

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & 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

DisGeNETi53
MalaCardsiACP2
OpenTargetsiENSG00000134575
PharmGKBiPA24447

Polymorphism and mutation databases

BioMutaiACP2
DMDMi115502439

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 30Add BLAST30
ChainiPRO_000002396031 – 423Lysosomal acid phosphataseAdd BLAST393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi92N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi133N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi159 ↔ 370By similarity
Glycosylationi167N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi177N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi191N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi212 ↔ 310By similarity
Glycosylationi267N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi322N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi331N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi345 ↔ 349By 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, Glycoprotein

Proteomic databases

EPDiP11117
MaxQBiP11117
PaxDbiP11117
PeptideAtlasiP11117
PRIDEiP11117
ProteomicsDBi52693
TopDownProteomicsiP11117-1 [P11117-1]

PTM databases

DEPODiP11117
GlyConnecti1476
iPTMnetiP11117
PhosphoSitePlusiP11117

Expressioni

Gene expression databases

BgeeiENSG00000134575 Expressed in 218 organ(s), highest expression level in right lobe of liver
CleanExiHS_ACP2
ExpressionAtlasiP11117 baseline and differential
GenevisibleiP11117 HS

Interactioni

Protein-protein interaction databases

BioGridi106569, 38 interactors
ELMiP11117
IntActiP11117, 2 interactors
STRINGi9606.ENSP00000256997

Structurei

3D structure databases

ProteinModelPortaliP11117
SMRiP11117
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the histidine acid phosphatase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3720 Eukaryota
ENOG410ZVBQ LUCA
GeneTreeiENSGT00530000062956
HOGENOMiHOG000231439
HOVERGENiHBG002203
InParanoidiP11117
KOiK14410
OMAiFLHLTEP
OrthoDBiEOG091G09FA
PhylomeDBiP11117
TreeFamiTF312893

Family and domain databases

CDDicd07061 HP_HAP_like, 1 hit
Gene3Di3.40.50.1240, 1 hit
InterProiView protein in InterPro
IPR033379 Acid_Pase_AS
IPR000560 His_Pase_clade-2
IPR029033 His_PPase_superfam
PfamiView protein in Pfam
PF00328 His_Phos_2, 1 hit
SUPFAMiSSF53254 SSF53254, 1 hit
PROSITEiView 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

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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.

« Hide
        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
Length:423
Mass (Da):48,344
Last modified:October 3, 2006 - v3
Checksum:i3431A30B83A1E2B4
GO
Isoform 2 (identifier: P11117-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-160: LLKFPLGPCP → VRVASPSLGW
     161-423: Missing.

Note: No experimental confirmation available.
Show »
Length:160
Mass (Da):18,417
Checksum:i18EA6F3F31278714
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHY0E9PHY0_HUMAN
Lysosomal acid phosphatase
ACP2
360Annotation score:
B7Z7D2B7Z7D2_HUMAN
Lysosomal acid phosphatase
ACP2
391Annotation score:
E9PQY3E9PQY3_HUMAN
Lysosomal acid phosphatase
ACP2
395Annotation score:
B7Z6U3B7Z6U3_HUMAN
Lysosomal acid phosphatase
ACP2
162Annotation score:
E9PKW9E9PKW9_HUMAN
Lysosomal acid phosphatase
ACP2
151Annotation score:
E9PQW9E9PQW9_HUMAN
Lysosomal acid phosphatase
ACP2
160Annotation score:
E9PP23E9PP23_HUMAN
Lysosomal acid phosphatase
ACP2
305Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02780129R → Q2 PublicationsCorresponds to variant dbSNP:rs2167079EnsemblClinVar.1
Natural variantiVAR_034394320S → F. Corresponds to variant dbSNP:rs34425282Ensembl.1
Natural variantiVAR_050519402V → I. Corresponds to variant dbSNP:rs4647764Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045629151 – 160LLKFPLGPCP → VRVASPSLGW in isoform 2. 1 Publication10
Alternative sequenceiVSP_045630161 – 423Missing in isoform 2. 1 PublicationAdd BLAST263

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X12548 mRNA Translation: CAA31064.1
X15525
, X15526, X15527, X15528, X15529, X15530, X15531, X15532, X15533, X15534, 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
CCDSiCCDS7928.1 [P11117-1]
PIRiS06167
RefSeqiNP_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]
UniGeneiHs.532492

Genome annotation databases

EnsembliENST00000256997; ENSP00000256997; ENSG00000134575 [P11117-1]
GeneIDi53
KEGGihsa:53
UCSCiuc001nei.3 human [P11117-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X12548 mRNA Translation: CAA31064.1
X15525
, X15526, X15527, X15528, X15529, X15530, X15531, X15532, X15533, X15534, 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
CCDSiCCDS7928.1 [P11117-1]
PIRiS06167
RefSeqiNP_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]
UniGeneiHs.532492

3D structure databases

ProteinModelPortaliP11117
SMRiP11117
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106569, 38 interactors
ELMiP11117
IntActiP11117, 2 interactors
STRINGi9606.ENSP00000256997

PTM databases

DEPODiP11117
GlyConnecti1476
iPTMnetiP11117
PhosphoSitePlusiP11117

Polymorphism and mutation databases

BioMutaiACP2
DMDMi115502439

Proteomic databases

EPDiP11117
MaxQBiP11117
PaxDbiP11117
PeptideAtlasiP11117
PRIDEiP11117
ProteomicsDBi52693
TopDownProteomicsiP11117-1 [P11117-1]

Protocols and materials databases

DNASUi53
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256997; ENSP00000256997; ENSG00000134575 [P11117-1]
GeneIDi53
KEGGihsa:53
UCSCiuc001nei.3 human [P11117-1]

Organism-specific databases

CTDi53
DisGeNETi53
EuPathDBiHostDB:ENSG00000134575.9
GeneCardsiACP2
HGNCiHGNC:123 ACP2
MalaCardsiACP2
MIMi171650 gene
neXtProtiNX_P11117
OpenTargetsiENSG00000134575
PharmGKBiPA24447
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3720 Eukaryota
ENOG410ZVBQ LUCA
GeneTreeiENSGT00530000062956
HOGENOMiHOG000231439
HOVERGENiHBG002203
InParanoidiP11117
KOiK14410
OMAiFLHLTEP
OrthoDBiEOG091G09FA
PhylomeDBiP11117
TreeFamiTF312893

Miscellaneous databases

ChiTaRSiACP2 human
GeneWikiiACP2
GenomeRNAii53
PROiPR:P11117
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134575 Expressed in 218 organ(s), highest expression level in right lobe of liver
CleanExiHS_ACP2
ExpressionAtlasiP11117 baseline and differential
GenevisibleiP11117 HS

Family and domain databases

CDDicd07061 HP_HAP_like, 1 hit
Gene3Di3.40.50.1240, 1 hit
InterProiView protein in InterPro
IPR033379 Acid_Pase_AS
IPR000560 His_Pase_clade-2
IPR029033 His_PPase_superfam
PfamiView protein in Pfam
PF00328 His_Phos_2, 1 hit
SUPFAMiSSF53254 SSF53254, 1 hit
PROSITEiView protein in PROSITE
PS00616 HIS_ACID_PHOSPHAT_1, 1 hit
PS00778 HIS_ACID_PHOSPHAT_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPPAL_HUMAN
AccessioniPrimary (citable) accession number: P11117
Secondary accession number(s): E9PCI1, Q561W5, Q9BTU7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: October 3, 2006
Last modified: November 7, 2018
This is version 173 of the entry and version 3 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

Complete proteome, Direct protein sequencing, 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 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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