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Protein

Lysosomal acid phosphatase

Gene

ACP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS05889-MONOMER.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:123. ACP2.

Subcellular locationi

Topology

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

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
Complete GO annotation...

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.

Organism-specific databases

DisGeNETi53.
MalaCardsiACP2.
OpenTargetsiENSG00000134575.
Orphaneti35121. Acid phosphatase deficiency.
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...)1 Publication1
Glycosylationi133N-linked (GlcNAc...)1 Publication1
Disulfide bondi159 ↔ 370By similarity
Glycosylationi167N-linked (GlcNAc...)1 Publication1
Glycosylationi177N-linked (GlcNAc...)1 Publication1
Glycosylationi191N-linked (GlcNAc...)1 Publication1
Disulfide bondi212 ↔ 310By similarity
Glycosylationi267N-linked (GlcNAc...)1 Publication1
Glycosylationi322N-linked (GlcNAc...)1 Publication1
Glycosylationi331N-linked (GlcNAc...)1 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.
TopDownProteomicsiP11117-1. [P11117-1]

PTM databases

DEPODiP11117.
iPTMnetiP11117.
PhosphoSitePlusiP11117.

Expressioni

Gene expression databases

BgeeiENSG00000134575.
CleanExiHS_ACP2.
ExpressionAtlasiP11117. baseline and differential.
GenevisibleiP11117. HS.

Organism-specific databases

HPAiCAB000115.
CAB003804.

Interactioni

Protein-protein interaction databases

BioGridi106569. 36 interactors.
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.
InterProiIPR033379. Acid_Pase_AS.
IPR000560. His_Pase_clade-2.
IPR029033. His_PPase_superfam.
[Graphical view]
PfamiPF00328. His_Phos_2. 1 hit.
[Graphical view]
SUPFAMiSSF53254. SSF53254. 1 hit.
PROSITEiPS00616. HIS_ACID_PHOSPHAT_1. 1 hit.
PS00778. HIS_ACID_PHOSPHAT_2. 1 hit.
[Graphical view]

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.

« 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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02780129R → Q.2 PublicationsCorresponds to variant rs2167079dbSNPEnsembl.1
Natural variantiVAR_034394320S → F.Corresponds to variant rs34425282dbSNPEnsembl.1
Natural variantiVAR_050519402V → I.Corresponds to variant rs4647764dbSNPEnsembl.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

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. 36 interactors.
IntActiP11117. 2 interactors.
STRINGi9606.ENSP00000256997.

PTM databases

DEPODiP11117.
iPTMnetiP11117.
PhosphoSitePlusiP11117.

Polymorphism and mutation databases

BioMutaiACP2.
DMDMi115502439.

Proteomic databases

EPDiP11117.
MaxQBiP11117.
PaxDbiP11117.
PeptideAtlasiP11117.
PRIDEiP11117.
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.
GeneCardsiACP2.
HGNCiHGNC:123. ACP2.
HPAiCAB000115.
CAB003804.
MalaCardsiACP2.
MIMi171650. gene.
neXtProtiNX_P11117.
OpenTargetsiENSG00000134575.
Orphaneti35121. Acid phosphatase deficiency.
PharmGKBiPA24447.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:HS05889-MONOMER.

Miscellaneous databases

ChiTaRSiACP2. human.
GeneWikiiACP2.
GenomeRNAii53.
PROiP11117.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134575.
CleanExiHS_ACP2.
ExpressionAtlasiP11117. baseline and differential.
GenevisibleiP11117. HS.

Family and domain databases

CDDicd07061. HP_HAP_like. 1 hit.
Gene3Di3.40.50.1240. 1 hit.
InterProiIPR033379. Acid_Pase_AS.
IPR000560. His_Pase_clade-2.
IPR029033. His_PPase_superfam.
[Graphical view]
PfamiPF00328. His_Phos_2. 1 hit.
[Graphical view]
SUPFAMiSSF53254. SSF53254. 1 hit.
PROSITEiPS00616. HIS_ACID_PHOSPHAT_1. 1 hit.
PS00778. HIS_ACID_PHOSPHAT_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPPAL_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 162 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. 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.