Human Gene ACP2 (ENST00000672073.1_6) from GENCODE V47lift37
  Description: acid phosphatase 2, lysosomal, transcript variant 1 (from RefSeq NM_001610.4)
Gencode Transcript: ENST00000672073.1_6
Gencode Gene: ENSG00000134575.13_13
Transcript (Including UTRs)
   Position: hg19 chr11:47,260,853-47,270,365 Size: 9,513 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr11:47,261,667-47,270,340 Size: 8,674 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:47,260,853-47,270,365)mRNA (may differ from genome)Protein (423 aa)
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-  Comments and Description Text from UniProtKB
  ID: PPAL_HUMAN
DESCRIPTION: RecName: Full=Lysosomal acid phosphatase; Short=LAP; EC=3.1.3.2; Flags: Precursor;
CATALYTIC ACTIVITY: A phosphate monoester + H(2)O = 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.
PTM: 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.
PTM: N-glycosylated. The intermediates formed during enzymatic deglycosylation suggest that all eight predicted N-glycosylation sites are used.
DISEASE: Defects in ACP2 are a cause of acid phosphatase deficiency (ACPHD) [MIM:200950]. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy. Lysosomal acid phosphatase is deficient in cultured fibroblasts and multiple tissues.
SIMILARITY: Belongs to the histidine acid phosphatase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACP2
Diseases sorted by gene-association score: lysosomal acid phosphatase deficiency* (72), keratoconus (9), atrichia with papular lesions (8), amyotrophic lateral sclerosis 8 (6), amebiasis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -0.7025-0.028 Picture PostScript Text
3' UTR -298.80814-0.367 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000560 - His_Pase_superF_clade-2

Pfam Domains:
PF00328 - Histidine phosphatase superfamily (branch 2)

SCOP Domains:
53254 - Phosphoglycerate mutase-like

ModBase Predicted Comparative 3D Structure on P11117
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003993 acid phosphatase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0001501 skeletal system development
GO:0007040 lysosome organization
GO:0016311 dephosphorylation

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AY007137 - Homo sapiens clone CDABP0055 mRNA sequence.
BC003160 - Homo sapiens acid phosphatase 2, lysosomal, mRNA (cDNA clone MGC:4215 IMAGE:2957907), complete cds.
BC093010 - Homo sapiens acid phosphatase 2, lysosomal, mRNA (cDNA clone MGC:110865 IMAGE:30332133), complete cds.
X12548 - Human mRNA for lysosomal acid phosphatase (EC 3.1.3.2).
JD171332 - Sequence 152356 from Patent EP1572962.
JD102877 - Sequence 83901 from Patent EP1572962.
JD239231 - Sequence 220255 from Patent EP1572962.
JD215183 - Sequence 196207 from Patent EP1572962.
JD308683 - Sequence 289707 from Patent EP1572962.
JD372391 - Sequence 353415 from Patent EP1572962.
AK298122 - Homo sapiens cDNA FLJ52440 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
AK308512 - Homo sapiens cDNA, FLJ98553.
JD526841 - Sequence 507865 from Patent EP1572962.
JD334690 - Sequence 315714 from Patent EP1572962.
JD121001 - Sequence 102025 from Patent EP1572962.
JD297830 - Sequence 278854 from Patent EP1572962.
JD300066 - Sequence 281090 from Patent EP1572962.
AK301860 - Homo sapiens cDNA FLJ51131 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
JD293783 - Sequence 274807 from Patent EP1572962.
AK303894 - Homo sapiens cDNA FLJ52526 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
JD537444 - Sequence 518468 from Patent EP1572962.
JD476968 - Sequence 457992 from Patent EP1572962.
JD423594 - Sequence 404618 from Patent EP1572962.
JD464749 - Sequence 445773 from Patent EP1572962.
AK300569 - Homo sapiens cDNA FLJ53923 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
JD498587 - Sequence 479611 from Patent EP1572962.
JD205916 - Sequence 186940 from Patent EP1572962.
AK298439 - Homo sapiens cDNA FLJ51033 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
JD522834 - Sequence 503858 from Patent EP1572962.
DQ892669 - Synthetic construct clone IMAGE:100005299; FLH190520.01X; RZPDo839B0376D acid phosphatase 2, lysosomal (ACP2) gene, encodes complete protein.
DQ895913 - Synthetic construct Homo sapiens clone IMAGE:100010373; FLH190516.01L; RZPDo839B0366D acid phosphatase 2, lysosomal (ACP2) gene, encodes complete protein.
AK300911 - Homo sapiens cDNA FLJ51106 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
AK311431 - Homo sapiens cDNA, FLJ18473.
AK299382 - Homo sapiens cDNA FLJ51058 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
AK300931 - Homo sapiens cDNA FLJ51107 complete cds, highly similar to Lysosomal acid phosphatase precursor (EC 3.1.3.2).
AK097626 - Homo sapiens cDNA FLJ40307 fis, clone TESTI2029259, weakly similar to LYSOSOMAL ACID PHOSPHATASE PRECURSOR (EC 3.1.3.2).

-  Other Names for This Gene
  Alternate Gene Symbols: E9PCI1, NM_001610, P11117, PPAL_HUMAN, Q561W5, Q9BTU7, uc329wjy.1, uc329wjy.2
UCSC ID: ENST00000672073.1_6
RefSeq Accession: NM_001357016.2
Protein: P11117 (aka PPAL_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.