Human Gene ACP1 (uc002qwd.2)
  Description: Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 4, mRNA.
RefSeq Summary (NM_001040649): The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008].
Transcript (Including UTRs)
   Position: hg19 chr2:264,869-272,481 Size: 7,613 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr2:264,965-272,258 Size: 7,294 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:264,869-272,481)mRNA (may differ from genome)Protein (112 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B5MCC7_HUMAN
DESCRIPTION: SubName: Full=Low molecular weight phosphotyrosine protein phosphatase;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ACP1
CDC HuGE Published Literature: ACP1
Positive Disease Associations: cholesterol; triglycerides; obesity , diabetes, type 1 , diabetes, type 2 , haptoglobin development , intrauterine growth , Tourette syndrome , triglyceride levels
Related Studies:
  1. cholesterol; triglycerides; obesity
    Bottini, N. et al. 2002, Association of the acid phosphatase (ACP1) gene with triglyceride levels in obese women., Molecular genetics and metabolism. 2002 Nov;77(3):226-9. [PubMed 12409270]
    The present study suggests that those who gain weight and carry the ACP1 *A allele may be partially protected against developing the metabolic syndrome. The confirmation of ACP1 as a modifier gene of the metabolic complications could open the door to the prevention of the lethal complications of obesity.
  2. diabetes, type 1
    Meloni, G. F. et al. 2003, Association of the ACP1 genotype with metabolic parameters upon initial diagnosis of type 1 diabetes., Medical science monitor. 2003 Mar;9(3):CR105-8. [PubMed 12640337]
    These differences suggest that the enzyme might be involved in different signal transduction pathways relevant in the pathogenesis of these two classes of diabetic disorders. It would be interesting to study the possible correlation in Type 1 diabetes between ACP1 and immunological parameters.
  3. diabetes, type 1
    Bottini, N. et al. 2002, Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner, Metabolism: clinical and experimental. 2002 Apr;51(4):419-22. [PubMed 11912546]
    The data suggest that acid phosphatase genotype affects the age of onset and probably also the sex ratio in type 1 diabetes. Sex hormones might modulate the susceptibility to autoimmune diseases, including type 1 diabetes, through the influence of signal transduction pathways involved in immune functions. Elucidation of the molecular basis for gender differences in the course and severity of type 1 diabetes could have important implications for treatment as well, because there might be gender-specific effects in the response to immunotherapy.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ACP1
Diseases sorted by gene-association score: favism (9), stress polycythemia (5), juvenile myelomonocytic leukemia (2), cd45 deficiency (2), noonan syndrome 1 (2), cataract 31, multiple types (2), dressler's syndrome (2), cowden disease (1), diabetes mellitus, insulin-dependent (1), diabetes mellitus, noninsulin-dependent (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.76 RPKM in Adrenal Gland
Total median expression: 1159.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.3096-0.586 Picture PostScript Text
3' UTR -51.50223-0.231 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
IPR023485 - Ptyr_pPase_SF
IPR000106 - Tyr_phospatase/Ars_reductase
IPR017867 - Tyr_phospatase_low_mol_wt

Pfam Domains:
PF01451 - Low molecular weight phosphotyrosine protein phosphatase

SCOP Domains:
52788 - Phosphotyrosine protein phosphatases I

ModBase Predicted Comparative 3D Structure on B5MCC7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  JD538200 - Sequence 519224 from Patent EP1572962.
HM005577 - Homo sapiens clone HTL-S-37 testicular secretory protein Li 37 mRNA, complete cds.
AK289934 - Homo sapiens cDNA FLJ77022 complete cds, highly similar to Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 2, mRNA.
JD230838 - Sequence 211862 from Patent EP1572962.
BC020699 - Homo sapiens acid phosphatase 1, soluble, mRNA (cDNA clone IMAGE:4703064), with apparent retained intron.
M83653 - Homo sapiens cytoplasmic phosphotyrosyl protein phosphatase (clone type 1) complete cds.
AK291861 - Homo sapiens cDNA FLJ77158 complete cds, highly similar to Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.
BC007422 - Homo sapiens acid phosphatase 1, soluble, mRNA (cDNA clone MGC:3499 IMAGE:3027769), complete cds.
AB209838 - Homo sapiens mRNA for acid phosphatase 1 isoform c variant protein.
BC106011 - Homo sapiens acid phosphatase 1, soluble, mRNA (cDNA clone MGC:111030 IMAGE:4995529), complete cds.
AB385551 - Synthetic construct DNA, clone: pF1KB5469, Homo sapiens ACP1 gene for acid phosphatase 1, complete cds, without stop codon, in Flexi system.
BT007136 - Homo sapiens acid phosphatase 1, soluble mRNA, complete cds.
JF432258 - Synthetic construct Homo sapiens clone IMAGE:100073428 acid phosphatase 1, soluble (ACP1) gene, encodes complete protein.
KJ890617 - Synthetic construct Homo sapiens clone ccsbBroadEn_00011 ACP1 gene, encodes complete protein.
Y16846 - Homo sapiens mRNA for phosphotyrosyl protein phosphatase, splicing variant 3 (SV3).
M83654 - Homo sapiens cytoplasmic phosphotyrosyl protein phosphatase (clone type 2) 5'end.
M87546 - Human adipocyte acid phosphatase mRNA.
S62885 - adipocyte acid phosphatase beta=phenylarsine oxide-sensitive tyrosyl phosphatase [human, adipocytes, mRNA Partial, 1475 nt].
M87545 - Human adipocyte acid phosphatase mRNA.
S62884 - adipocyte acid phosphatase alpha [human, adipocytes, mRNA Partial, 970 nt].
JD396249 - Sequence 377273 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00740 - Riboflavin metabolism
hsa04520 - Adherens junction

-  Other Names for This Gene
  Alternate Gene Symbols: B5MCC7, B5MCC7_HUMAN, NM_001040649, NP_001035739
UCSC ID: uc002qwd.2
RefSeq Accession: NM_001040649
Protein: B5MCC7 CCDS: CCDS46217.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001040649.2
exon count: 3CDS single in 3' UTR: no RNA size: 658
ORF size: 339CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 878.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 331# strange splices: 0
Click here for a detailed description of the fields of the table above.

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