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P11117

- PPAL_HUMAN

UniProt

P11117 - PPAL_HUMAN

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Protein

Lysosomal acid phosphatase

Gene
ACP2
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei42 – 421Nucleophile By similarity
Active sitei287 – 2871Proton donor By similarity

GO - Molecular functioni

  1. acid phosphatase activity Source: ProtInc

GO - Biological processi

  1. dephosphorylation Source: GOC
  2. lysosome organization Source: Ensembl
  3. skeletal system development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:123. ACP2.

Subcellular locationi

Lysosome membrane; Single-pass membrane protein; Lumenal side. Lysosome lumen
Note: The soluble form arises by proteolytic processing of the membrane-bound form.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini31 – 380350Lumenal Reviewed predictionAdd
BLAST
Transmembranei381 – 40121Helical; Reviewed predictionAdd
BLAST
Topological domaini402 – 42322Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: ProtInc
  3. lysosomal lumen Source: UniProtKB-SubCell
  4. lysosomal membrane Source: UniProtKB-SubCell
  5. lysosome Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Organism-specific databases

MIMi200950. phenotype.
Orphaneti35121. Acid phosphatase deficiency.
PharmGKBiPA24447.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3030Add
BLAST
Chaini31 – 423393Lysosomal acid phosphatasePRO_0000023960Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi92 – 921N-linked (GlcNAc...)1 Publication
Glycosylationi133 – 1331N-linked (GlcNAc...)1 Publication
Disulfide bondi159 ↔ 370 By similarity
Glycosylationi167 – 1671N-linked (GlcNAc...)1 Publication
Glycosylationi177 – 1771N-linked (GlcNAc...)1 Publication
Glycosylationi191 – 1911N-linked (GlcNAc...) Inferred
Disulfide bondi212 ↔ 310 By similarity
Glycosylationi267 – 2671N-linked (GlcNAc...)1 Publication
Glycosylationi322 – 3221N-linked (GlcNAc...) Inferred
Glycosylationi331 – 3311N-linked (GlcNAc...)1 Publication
Disulfide bondi345 ↔ 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.
N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP11117.
PaxDbiP11117.
PeptideAtlasiP11117.
PRIDEiP11117.

PTM databases

PhosphoSiteiP11117.

Expressioni

Gene expression databases

ArrayExpressiP11117.
BgeeiP11117.
CleanExiHS_ACP2.
GenevestigatoriP11117.

Interactioni

Protein-protein interaction databases

BioGridi106569. 6 interactions.
IntActiP11117. 2 interactions.
STRINGi9606.ENSP00000256997.

Structurei

3D structure databases

ProteinModelPortaliP11117.
SMRiP11117. Positions 31-370.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG85977.
HOGENOMiHOG000231439.
HOVERGENiHBG002203.
InParanoidiP11117.
KOiK14410.
OMAiQDFLHLT.
OrthoDBiEOG7GXPBJ.
PhylomeDBiP11117.
TreeFamiTF312893.

Family and domain databases

Gene3Di3.40.50.1240. 1 hit.
InterProiIPR000560. His_Pase_superF_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. Align

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

MAGKRSGWSR AALLQLLLGV NLVVMPPTRA RSLRFVTLLY RHGDRSPVKT    50
YPKDPYQEEE WPQGFGQLTK EGMLQHWELG QALRQRYHGF LNTSYHRQEV 100
YVRSTDFDRT LMSAEANLAG LFPPNGMQRF NPNISWQPIP VHTVPITEDR 150
LLKFPLGPCP RYEQLQNETR QTPEYQNESS RNAQFLDMVA NETGLTDLTL 200
ETVWNVYDTL FCEQTHGLRL PPWASPQTMQ RLSRLKDFSF RFLFGIYQQA 250
EKARLQGGVL LAQIRKNLTL MATTSQLPKL LVYSAHDTTL VALQMALDVY 300
NGEQAPYASC HIFELYQEDS GNFSVEMYFR NESDKAPWPL SLPGCPHRCP 350
LQDFLRLTEP VVPKDWQQEC QLASGPADTE VIVALAVCGS ILFLLIVLLL 400
TVLFRMQAQP PGYRHVADGE DHA 423
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291R → Q.2 Publications
Corresponds to variant rs2167079 [ dbSNP | Ensembl ].
VAR_027801
Natural varianti320 – 3201S → F.
Corresponds to variant rs34425282 [ dbSNP | Ensembl ].
VAR_034394
Natural varianti402 – 4021V → I.
Corresponds to variant rs4647764 [ dbSNP | Ensembl ].
VAR_050519

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei151 – 16010LLKFPLGPCP → VRVASPSLGW in isoform 2. VSP_045629
Alternative sequencei161 – 423263Missing in isoform 2. VSP_045630Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS44583.1. [P11117-2]
CCDS7928.1. [P11117-1]
PIRiS06167.
RefSeqiNP_001124536.1. NM_001131064.1. [P11117-2]
NP_001601.1. NM_001610.2. [P11117-1]
UniGeneiHs.532492.

Genome annotation databases

EnsembliENST00000256997; ENSP00000256997; ENSG00000134575. [P11117-1]
ENST00000444355; ENSP00000414911; ENSG00000134575. [P11117-2]
GeneIDi53.
KEGGihsa:53.
UCSCiuc001nei.3. human. [P11117-1]

Polymorphism databases

DMDMi115502439.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS44583.1. [P11117-2 ]
CCDS7928.1. [P11117-1 ]
PIRi S06167.
RefSeqi NP_001124536.1. NM_001131064.1. [P11117-2 ]
NP_001601.1. NM_001610.2. [P11117-1 ]
UniGenei Hs.532492.

3D structure databases

ProteinModelPortali P11117.
SMRi P11117. Positions 31-370.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106569. 6 interactions.
IntActi P11117. 2 interactions.
STRINGi 9606.ENSP00000256997.

PTM databases

PhosphoSitei P11117.

Polymorphism databases

DMDMi 115502439.

Proteomic databases

MaxQBi P11117.
PaxDbi P11117.
PeptideAtlasi P11117.
PRIDEi P11117.

Protocols and materials databases

DNASUi 53.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256997 ; ENSP00000256997 ; ENSG00000134575 . [P11117-1 ]
ENST00000444355 ; ENSP00000414911 ; ENSG00000134575 . [P11117-2 ]
GeneIDi 53.
KEGGi hsa:53.
UCSCi uc001nei.3. human. [P11117-1 ]

Organism-specific databases

CTDi 53.
GeneCardsi GC11M047260.
HGNCi HGNC:123. ACP2.
MIMi 171650. gene.
200950. phenotype.
neXtProti NX_P11117.
Orphaneti 35121. Acid phosphatase deficiency.
PharmGKBi PA24447.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG85977.
HOGENOMi HOG000231439.
HOVERGENi HBG002203.
InParanoidi P11117.
KOi K14410.
OMAi QDFLHLT.
OrthoDBi EOG7GXPBJ.
PhylomeDBi P11117.
TreeFami TF312893.

Miscellaneous databases

GeneWikii ACP2.
GenomeRNAii 53.
NextBioi 213.
PROi P11117.
SOURCEi Search...

Gene expression databases

ArrayExpressi P11117.
Bgeei P11117.
CleanExi HS_ACP2.
Genevestigatori P11117.

Family and domain databases

Gene3Di 3.40.50.1240. 1 hit.
InterProi IPR000560. His_Pase_superF_clade-2.
IPR029033. His_PPase_superfam.
[Graphical view ]
Pfami PF00328. His_Phos_2. 1 hit.
[Graphical view ]
SUPFAMi SSF53254. SSF53254. 1 hit.
PROSITEi PS00616. HIS_ACID_PHOSPHAT_1. 1 hit.
PS00778. HIS_ACID_PHOSPHAT_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

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: July 9, 2014
This is version 141 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

External Data

Dasty 3

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