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P11117 (PPAL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lysosomal acid phosphatase

Short name=LAP
EC=3.1.3.2
Gene names
Name:ACP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length423 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

A phosphate monoester + H2O = an alcohol + phosphate.

Subcellular location

Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen. Note: The soluble form arises by proteolytic processing of the membrane-bound form. Ref.6 Ref.8

Post-translational modification

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.

N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used. Ref.8

Involvement in disease

Acid phosphatase deficiency (ACPHD) [MIM:200950]: A disorder characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding and death in early infancy. Lysosomal acid phosphatase is deficient in cultured fibroblasts and multiple tissues.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the histidine acid phosphatase family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P11117-1)

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.
Isoform 2 (identifier: P11117-2)

The sequence of this isoform differs from the canonical sequence as follows:
     151-160: LLKFPLGPCP → VRVASPSLGW
     161-423: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3030
Chain31 – 423393Lysosomal acid phosphatase
PRO_0000023960

Regions

Topological domain31 – 380350Lumenal Potential
Transmembrane381 – 40121Helical; Potential
Topological domain402 – 42322Cytoplasmic Potential

Sites

Active site421Nucleophile By similarity
Active site2871Proton donor By similarity

Amino acid modifications

Glycosylation921N-linked (GlcNAc...) Ref.9
Glycosylation1331N-linked (GlcNAc...) Ref.9
Glycosylation1671N-linked (GlcNAc...) Ref.9
Glycosylation1771N-linked (GlcNAc...) Ref.9
Glycosylation1911N-linked (GlcNAc...) Probable
Glycosylation2671N-linked (GlcNAc...) Ref.9
Glycosylation3221N-linked (GlcNAc...) Probable
Glycosylation3311N-linked (GlcNAc...) Ref.9
Disulfide bond159 ↔ 370 By similarity
Disulfide bond212 ↔ 310 By similarity
Disulfide bond345 ↔ 349 By similarity

Natural variations

Alternative sequence151 – 16010LLKFPLGPCP → VRVASPSLGW in isoform 2.
VSP_045629
Alternative sequence161 – 423263Missing in isoform 2.
VSP_045630
Natural variant291R → Q. Ref.3 Ref.5
Corresponds to variant rs2167079 [ dbSNP | Ensembl ].
VAR_027801
Natural variant3201S → F.
Corresponds to variant rs34425282 [ dbSNP | Ensembl ].
VAR_034394
Natural variant4021V → I.
Corresponds to variant rs4647764 [ dbSNP | Ensembl ].
VAR_050519

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2006. Version 3.
Checksum: 3431A30B83A1E2B4

FASTA42348,344
        10         20         30         40         50         60 
MAGKRSGWSR AALLQLLLGV NLVVMPPTRA RSLRFVTLLY RHGDRSPVKT YPKDPYQEEE 

        70         80         90        100        110        120 
WPQGFGQLTK EGMLQHWELG QALRQRYHGF LNTSYHRQEV YVRSTDFDRT LMSAEANLAG 

       130        140        150        160        170        180 
LFPPNGMQRF NPNISWQPIP VHTVPITEDR LLKFPLGPCP RYEQLQNETR QTPEYQNESS 

       190        200        210        220        230        240 
RNAQFLDMVA NETGLTDLTL ETVWNVYDTL FCEQTHGLRL PPWASPQTMQ RLSRLKDFSF 

       250        260        270        280        290        300 
RFLFGIYQQA EKARLQGGVL LAQIRKNLTL MATTSQLPKL LVYSAHDTTL VALQMALDVY 

       310        320        330        340        350        360 
NGEQAPYASC HIFELYQEDS GNFSVEMYFR NESDKAPWPL SLPGCPHRCP LQDFLRLTEP 

       370        380        390        400        410        420 
VVPKDWQQEC QLASGPADTE VIVALAVCGS ILFLLIVLLL TVLFRMQAQP PGYRHVADGE 


DHA 

« Hide

Isoform 2 [UniParc].

Checksum: 18EA6F3F31278714
Show »

FASTA16018,417

References

« Hide 'large scale' references
[1]"Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment."
Pohlmann R., Krentler C., Schmidt B., Schroeder W., Lorkowski G., Culley J., Mersmann G., Geier C., Waheed A., Gottschalk S., Grzeschik K.H., Hasikik A., von Figura K.
EMBO J. 7:2343-2350(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
Tissue: Placenta.
[2]"Structure of the human lysosomal acid phosphatase gene."
Geier C., von Figura K., Pohlmann R.
Eur. J. Biochem. 183:611-616(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Leukocyte.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-29.
Tissue: Thalamus.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-29.
Tissue: Kidney and Placenta.
[6]"Sequential processing of lysosomal acid phosphatase by a cytoplasmic thiol proteinase and a lysosomal aspartyl proteinase."
Gottschalk S., Waheed A., Schmidt B., Laidler P., von Figura K.
EMBO J. 8:3215-3219(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL PROTEIN SEQUENCE, PROTEOLYTIC PROCESSING, SUBCELLULAR LOCATION.
[7]"Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder."
Nadler H.L., Egan T.J.
N. Engl. J. Med. 282:302-307(1970) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE.
[8]"Human lysosomal acid phosphatase is transported as a transmembrane protein to lysosomes in transfected baby hamster kidney cells."
Waheed A., Gottschalk S., Hille A., Krentler C., Pohlmann R., Braulke T., Hauser H., Geuze H., von Figura K.
EMBO J. 7:2351-2358(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, MEMBRANE TOPOLOGY, PROTEOLYTIC PROCESSING.
[9]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-92; ASN-133; ASN-167; ASN-177; ASN-267 AND ASN-331.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X12548 mRNA. Translation: CAA31064.1.
X15525 expand/collapse EMBL AC list , 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.
CCDSCCDS44583.1. [P11117-2]
CCDS7928.1. [P11117-1]
PIRS06167.
RefSeqNP_001124536.1. NM_001131064.1. [P11117-2]
NP_001601.1. NM_001610.2. [P11117-1]
UniGeneHs.532492.

3D structure databases

ProteinModelPortalP11117.
SMRP11117. Positions 31-370.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106569. 6 interactions.
IntActP11117. 2 interactions.
STRING9606.ENSP00000256997.

PTM databases

PhosphoSiteP11117.

Polymorphism databases

DMDM115502439.

Proteomic databases

MaxQBP11117.
PaxDbP11117.
PeptideAtlasP11117.
PRIDEP11117.

Protocols and materials databases

DNASU53.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256997; ENSP00000256997; ENSG00000134575. [P11117-1]
ENST00000444355; ENSP00000414911; ENSG00000134575. [P11117-2]
GeneID53.
KEGGhsa:53.
UCSCuc001nei.3. human. [P11117-1]

Organism-specific databases

CTD53.
GeneCardsGC11M047260.
HGNCHGNC:123. ACP2.
MIM171650. gene.
200950. phenotype.
neXtProtNX_P11117.
Orphanet35121. Acid phosphatase deficiency.
PharmGKBPA24447.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85977.
HOGENOMHOG000231439.
HOVERGENHBG002203.
InParanoidP11117.
KOK14410.
OMAQDFLHLT.
OrthoDBEOG7GXPBJ.
PhylomeDBP11117.
TreeFamTF312893.

Gene expression databases

ArrayExpressP11117.
BgeeP11117.
CleanExHS_ACP2.
GenevestigatorP11117.

Family and domain databases

Gene3D3.40.50.1240. 1 hit.
InterProIPR000560. His_Pase_superF_clade-2.
IPR029033. His_PPase_superfam.
[Graphical view]
PfamPF00328. His_Phos_2. 1 hit.
[Graphical view]
SUPFAMSSF53254. SSF53254. 1 hit.
PROSITEPS00616. HIS_ACID_PHOSPHAT_1. 1 hit.
PS00778. HIS_ACID_PHOSPHAT_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiACP2.
GenomeRNAi53.
NextBio213.
PROP11117.
SOURCESearch...

Entry information

Entry namePPAL_HUMAN
AccessionPrimary (citable) accession number: P11117
Secondary accession number(s): E9PCI1, Q561W5, Q9BTU7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 141 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM