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ACP1 Gene

protein-coding   GIFtS: 69
GCID: GC02P000254

Acid Phosphatase 1, Soluble

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acid Phosphatase 1, Soluble1 2     Acid Phosphatase Of Erythrocyte2
Adipocyte Acid Phosphatase2 3     Cytoplasmic Phosphotyrosyl Protein Phosphatase2
Low Molecular Weight Cytosolic Acid Phosphatase2 3     Low Molecular Weight Phosphotyrosine Protein Phosphatase2
Red Cell Acid Phosphatase 12 3     Protein Tyrosine Phosphatase2
LMW-PTP2 3     EC 3.1.3.23
LMW-PTPase2 3     EC 3.1.3.483
HAAP2     

External Ids:    HGNC: 1221   Entrez Gene: 522   Ensembl: ENSG000001437277   OMIM: 1715005   UniProtKB: P246663   

Export aliases for ACP1 gene to outside databases

Previous GC identifer: GC02P000258


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACP1 Gene:
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)

GeneCards Summary for ACP1 Gene:
ACP1 (acid phosphatase 1, soluble) is a protein-coding gene. Diseases associated with ACP1 include okamoto syndrome, and bubonic plague. GO annotations related to this gene include SH3 domain binding and non-membrane spanning protein tyrosine phosphatase activity.

UniProtKB/Swiss-Prot: PPAC_HUMAN, P24666
Function: Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl
phosphates. Isoform 3 does not possess phosphatase activity

Gene Wiki entry for ACP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005334.17  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACP1 gene promoter:
         STAT5B   p53   Pax-2   STAT3   Pax-2a   Meis-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACP1 promoter sequence
   Search Chromatin IP Primers for ACP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p25   Ensembl cytogenetic band:  2p25.3   HGNC cytogenetic band: 2p25

ACP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P000254:  view genomic region     (about GC identifiers)

Start:
264,140 bp from pter      End:
278,283 bp from pter
Size:
14,144 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PPAC_HUMAN, P24666 (See protein sequence)
Recommended Name: Low molecular weight phosphotyrosine protein phosphatase  
Size: 158 amino acids; 18042 Da
Subunit: Isoform 1 interacts with the SH3 domain of SPTAN1. There is no interaction observed for isoforms 2 or 3.
Interacts with EPHA2; dephosphorylates EPHA2. Interacts with EPHB1
3 PDB 3D structures from and Proteopedia for ACP1:
1XWW (3D)        3N8I (3D)        5PNT (3D)    
Secondary accessions: A8K1L9 P24667 Q16035 Q16036 Q16725 Q3KQX8 Q53RU0
Alternative splicing: 3 isoforms:  P24666-1   P24666-2, P24667-1   P24666-3   

Explore the universe of human proteins at neXtProt for ACP1: NX_P24666

Explore proteomics data for ACP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys113
  • Modification sites at PhosphoSitePlus

  • See ACP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035739.1  NP_004291.1  NP_009030.1  

    ENSEMBL proteins: 
     ENSP00000272067   ENSP00000272065   ENSP00000410331   ENSP00000385404   ENSP00000389681  
     ENSP00000408596   ENSP00000384184   ENSP00000384307   ENSP00000411121  

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    ACP1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTP2: Protein tyrosine phosphatases / Class II Cys-based PTPs

    4 InterPro protein domains:
     IPR000106 Tyr_phospatase/Ars_reductase
     IPR017867 Tyr_phospatase_low_mol_wt
     IPR002115 Tyr_Pase_low_mol_wt_mml
     IPR023485 Ptyr_pPase_SF

    Graphical View of Domain Structure for InterPro Entry P24666

    ProtoNet protein and cluster: P24666

    2 Blocks protein domains:
    IPB000106 LMW phosphotyrosine protein phosphatase signature
    IPB002115 Mammalian LMW phosphotyrosine protein phosphatase signature


    UniProtKB/Swiss-Prot: PPAC_HUMAN, P24666
    Similarity: Belongs to the low molecular weight phosphotyrosine protein phosphatase family


    ACP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPAC_HUMAN, P24666
    Function: Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl
    phosphates. Isoform 3 does not possess phosphatase activity
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate
    Enzyme regulation: Inhibited by sulfhydryl reagents

         Genatlas biochemistry entry for ACP1:
    phosphatase acid,red cell

         Enzyme Numbers (IUBMB): EC 3.1.3.481 EC 3.1.3.21

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003993acid phosphatase activity IEA--
    GO:0004725protein tyrosine phosphatase activity ----
    GO:0004726non-membrane spanning protein tyrosine phosphatase activity IEA--
    GO:0005515protein binding IPI9499402
    GO:0016791phosphatase activity ----
         
    ACP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acp1):
     cellular  growth/size/body  immune system 

    ACP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acp1tm1Lex for ACP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACP1
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    miRNA
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    hsa-mir-151a-3p (MIRT043619), hsa-mir-25-3p (MIRT050258)

    Block miRNA regulation of human, mouse, rat ACP1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ACP1:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidACP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACP1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PPAC_HUMAN, P24666: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    cytosol3
    extracellular2
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA10940933
    GO:0009898cytoplasmic side of plasma membrane IDA10940933
    GO:0043005neuron projection ----
    GO:0070062extracellular vesicular exosome IDA19056867

    ACP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Riboflavin metabolism
    Riboflavin metabolism
    2PDGFR-beta signaling pathway
    PDGFR-beta signaling pathway
    3EPHA2 forward signaling
    EPHA2 forward signaling
    4Adherens junction
    Adherens junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACP1
        EPHA2 forward signaling
    PDGFR-beta signaling pathway



    2 Kegg Pathways  (Kegg details for ACP1):
        Riboflavin metabolism
    Adherens junction


    ACP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ACP1: 
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACP1 (P246661, 3 ENSP000002720654) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FNBP1LQ5T0N53, ENSP000002712344I2D: score=4 STRING: ENSP00000271234
    EPHB1P547623, ENSP000003810974I2D: score=3 STRING: ENSP00000381097
    EPHA2P293173, ENSP000003512094I2D: score=2 STRING: ENSP00000351209
    ZAP70P434033, ENSP000002649724I2D: score=2 STRING: ENSP00000264972
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission ----

    ACP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACP1 (PPAC)

    6 HMDB Compounds for ACP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Nitrophenol1-Hydroxy-4-nitrobenzene (see all 8)100-02-7--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Riboflavin(-)-Riboflavin (see all 30)83-88-5--
    Tartaric acid(+)-(2R,3R)-Tartaric acid (see all 37)87-69-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for ACP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenine1H-Purin-6-amine (see all 5)73-24-5target--10684601 17139284 17016423 7629177 15358193 10592235
    4-Nitrophenyl Phosphate-- 330-13-2target--10592235

    Selected Novoseek inferred chemical compound relationships for ACP1 gene (see all 116)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 94.6 3576 16039061 (12), 15477998 (6), 10980198 (5), 8258363 (5) (see all 99)
    phosphotyrosine 91.9 211 7679612 (5), 2134890 (3), 8620937 (3), 7686722 (3) (see all 99)
    sodium orthovanadate 88.7 78 10230815 (2), 11507066 (2), 8186375 (1), 8014198 (1) (see all 66)
    vanadate 88.1 139 11980490 (4), 2154464 (3), 9878539 (2), 10439081 (2) (see all 99)
    phenylarsine oxide 82.6 54 8581996 (2), 7738000 (2), 1423640 (2), 9341756 (2) (see all 31)
    raytide 80.3 5 1318316 (1), 7684610 (1), 8256510 (1)
    p-nitrophenyl phosphate 76.9 8 8127855 (2), 2134890 (1), 19414171 (1), 7528537 (1) (see all 7)
    dephostatin 75.7 9 8557604 (4), 8226312 (1), 20130847 (1)
    bpv(phen) 71.2 3 16039061 (1), 11792460 (1)
    benzylphosphonic acid 70 2 9458714 (1), 9106619 (1)



    ACP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACP1 gene (4 alternative transcripts): 
    NM_001040649.2  NM_004300.3  NM_007099.3  NM_177554.1  

    Unigene Cluster for ACP1:

    Acid phosphatase 1, soluble
    Hs.558296  [show with all ESTs]
    Unigene Representative Sequence: NR_024080
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484125 ENST00000272067(uc002qwg.3 uc002qwh.3) ENST00000272065(uc002qwf.3)
    ENST00000413140 ENST00000407983(uc002qwd.2) ENST00000442386 ENST00000439645
    ENST00000405364 ENST00000405233(uc002qwe.4) ENST00000480874 ENST00000453390
    ENST00000484464 ENST00000463831
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      QuantiFast Probe-based Assays in human, mouse, rat ACP1

    Additional mRNA sequence: 

    AB209838.1 AK289934.1 AK291861.1 BC007422.2 BC106011.1 BT007136.1 M83653.1 M83654.1 
    M87545.1 NR_024080.1 S62884.1 Y16846.1 

    20 DOTS entries:

    DT.100842980  DT.99931855  DT.100030203  DT.454219  DT.100842972  DT.100842978  DT.121013711  DT.119141 
    DT.100742580  DT.95256266  DT.100842976  DT.100842982  DT.119140  DT.95256302  DT.121013776  DT.121013819 
    DT.91759792  DT.95256278  DT.121417499  DT.99984839 

    Selected AceView cDNA sequences (see all 473):

    BE780538 CR599434 BC007422 BE905801 AI870895 BM970524 BU186543 BP872697 
    CD251736 AL552042 BM793724 CB144180 BM716010 BQ876785 AI191472 AA120890 
    BM770461 NM_177554 N90219 CR624312 BE221706 AA428982 NM_007099 BX443485 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACP1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
    SP1:                                -                 -                 -     -     -                                                         
    SP2:                                -     -           -           -     -           -                                                         
    SP3:                                -     -           -     -     -     -           -                                                         
    SP4:                                -     -           -                 -     -     -                                                         
    SP5:                                      -           -                 -     -     -                                                         


    ECgene alternative splicing isoforms for ACP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATTTCAA
    ACP1 Expression
    About this image


    ACP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Ovary (Reproductive System)
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
    ACP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558296

    UniProtKB/Swiss-Prot: PPAC_HUMAN, P24666
    Tissue specificity: T-lymphocytes express only isoform 2

        Pathway & Disease-focused RT2 Profiler PCR Array including ACP1: 
              Protein Phosphatases in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat ACP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACP1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acp11 , 5 acid phosphatase 1, soluble1, 5 84.81(n)1
    86.08(a)1
      12 (13.00 cM)5
    114311  NM_021330.41  NP_067305.21 
     308933265 
    chicken
    (Gallus gallus)
    Aves ACP11 acid phosphatase 1, soluble 78.48(n)
    82.28(a)
      421909  NM_001039291.1  NP_001034380.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACP16
    acid phosphatase 1, soluble
    73(a)
    1 ↔ 1
    1(160075750-160097677)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY039214.12   -- 77.5(n)    AY039214.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acp11 acid phosphatase 1, soluble 69.44(n)
    75.64(a)
      541489  NM_001244782.1  NP_001231711.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta primo-11 , 3 protein amino acid dephosphorylation
    protein tyrosine more3
    primo-11
    46(a)3
    52.48(n)1
    47.3(a)1
      37721791  NM_001032015.21  NP_001027186.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y94H6A.71 Y94H6A.7 50.43(n)
    47.44(a)
      177055  NM_067845.5  NP_500246.5 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LTP1(YPR073C)4 Protein phosphotyrosine phosphatase of unknown cellular more   --   16(692418-691933) 856187  NP_015398.1 


    ENSEMBL Gene Tree for ACP1 (if available)
    TreeFam Gene Tree for ACP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACP1 gene

    ACP1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ACP1 (see all 6)
    PGOHUM00000238865 PGOHUM00000248729 PGOHUM00000248738 PGOHUM00000249002 PGOHUM00000244482


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    PPAC_HUMAN, P24666: ACP1 is genetically polymorphic. Three common alleles are known in Caucasians: ACP1*A, ACP1*B and
    ACP1*C. They give rise to six different phenotypes. Each allele appears to encode two electrophoretically
    different isozymes, F and S, which are produced in allele-specific ratios. The sequence shown is that of allele
    ACP1*B and allele ACP1*C


    Selected SNPs for ACP1 (see all 379)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797160741,2
    C,Fnon-pathogenic1265558(+) TAATCA/GAGTTA 5 Q R mis110Minor allele frequency- G:0.28NA WA CSA EA EU 5363
    rs747379561,2
    F--251440(+) GTTTTA/CCAGAA 4 -- us2k11Minor allele frequency- C:0.10WA 118
    rs1879724981,2
    --251540(+) AACCTC/TCAACA 4 -- us2k10--------
    rs1911422431,2
    --251703(+) TAAAAA/CCACCT 4 -- us2k10--------
    rs1461338991,2
    --251751(+) CAGAAA/GAGAAA 4 -- us2k10--------
    rs101679921,2
    C,F,H--251824(+) GAGCAC/TGGGCA 4 -- us2k125Minor allele frequency- T:0.08NS EA NA WA CSA 2362
    rs1822400581,2
    --251880(+) TAAATA/CCTATT 4 -- us2k10--------
    rs1401701691,2
    --251946(+) AACTCA/GGCAGC 4 -- us2k10--------
    rs1866596691,2
    --251994(+) CGCCGC/TGACCC 4 -- us2k10--------
    rs1438753411,2
    --252027(+) GACCCC/TGGCGC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACP1 (264140 - 278283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ACP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833159CNV Loss17160897
    nsv833170CNV Loss17160897
    nsv873529CNV Gain21882294
    nsv873530CNV Gain21882294
    nsv873531CNV Gain21882294
    essv3569CNV CNV17122850
    essv2780CNV CNV17122850
    dgv1137e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACP1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 171500    OMIM disorders: --

    Selected diseases for ACP1 (see all 123):    
    About MalaCards
    okamoto syndrome    bubonic plague    progressive myoclonus epilepsy, lafora type    favism
    multiple symmetric lipomatosis    multiple symmetrical lipomatosis    tic disorder    plague
    lafora disease    lipomatosis    amebiasis    leopard syndrome
    centronuclear myopathy    progressive myoclonus epilepsy    noonan syndrome    myoclonus
    polycythemia vera    myoclonus epilepsy    bilateral breast cancer    polycythemia

    2 diseases from the University of Copenhagen DISEASES database for ACP1:
    Favism     Arthropathy

    ACP1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ACP1 gene (see all 90)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    noonan syndrome 70 11 15240615 (2), 12161469 (2), 16208280 (1), 19541608 (1) (see all 9)
    bubonic plague 60.8 7 1723471 (1), 14609321 (1), 8052312 (1), 7803389 (1) (see all 5)
    centronuclear myopathy 49.8 2 10900271 (1), 11056007 (1)
    lafora disease 45 6 9771710 (1), 16134145 (1), 14643920 (1), 17010495 (1) (see all 5)
    insulin resistance 40.4 32 18925540 (4), 15271787 (2), 7769120 (2), 7535776 (1) (see all 21)
    autoimmunity 36.4 6 17608818 (1), 11826758 (1), 18303998 (1), 18416318 (1) (see all 6)
    leopard syndrome 36.1 1 16208280 (1)
    favism 34.7 2 8522318 (1), 9116311 (1)
    diabetes autoimmune 32.7 2 18056891 (1)
    immune disorder 32.6 2 18490013 (1), 19246900 (1)

    Genetic Association Database (GAD): ACP1
    Human Genome Epidemiology (HuGE) Navigator: ACP1 (44 documents)

    Export disorders for ACP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACP1 gene, integrated from 10 sources (see all 1503):
    (articles sorted by number of sources associating them with ACP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. [Genetic polymorphisms of low molecular weight protein tyrosine phosphatase (LMW-PTP): relationship with erythrocyte enzymatic phenotype in patients with Systemic Lupus Erythematosus]. (PubMed id 18604186)1, 4, 9 Esteves Martins M.d.e. .F....Pires Bicho M.D. (Acta Reumatol Port 2008)
    2. Association of the ACP1 genotype with metabolic parameters upon initial diagnosis of type 1 diabetes. (PubMed id 12640337)1, 4, 9 Meloni G....Bottini E. (Med. Sci. Monit. 2003)
    3. Type 2 diabetes and the genetics of signal transduction: a study of interaction between adenosine deaminase and acid phosphatase locus 1 polymorphisms. (PubMed id 15281007)1, 4, 9 Bottini N....Bottini E. (Metab. Clin. Exp. 2004)
    4. Type 1 diabetes: evidence of interaction between ACP1 and ADA1 gene polymorphisms. (PubMed id 19789510)1, 4, 9 Saccucci P....Gloria-Bottini F. (Med. Sci. Monit. 2009)
    5. ACP1 genotype, glutathione reductase activity, and riboflavin uptake affect cardiovascular risk in the obese. (PubMed id 19570551)1, 4, 9 Apelt N....Bicho M.P. (Metab. Clin. Exp. 2009)
    6. Association of the acid phosphatase (ACP1) gene with triglyceride levels in obese women. (PubMed id 12409270)1, 4, 9 Bottini N....Comings D.E. (Mol. Genet. Metab. 2002)
    7. Low molecular weight protein tyrosine phosphatase genetic polymorphism and susceptibility to cancer development. (PubMed id 18262048)1, 4, 9 Alho I....Bicho M. (Cancer Genet. Cytogenet. 2008)
    8. Genetic polymorphism and TH1/TH2 orientation. (PubMed id 16224193)1, 4, 9 Bottini N....Bottini E. (Int. Arch. Allergy Immunol. 2005)
    9. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PubMed id 11436564)1, 4, 9 Spitsyn V.A....Afanas'eva I.S. (Genetika 2001)
    10. ACP1 genetic polymorphism and coronary artery disease: an association study. (PubMed id 19246900)1, 4, 9 Banci M....Gloria-Bottini F. (Cardiology 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 52 HGNC: 122 AceView: ACP1 Ensembl:ENSG00000143727 euGenes: HUgn52
    ECgene: ACP1 Kegg: 52 H-InvDB: ACP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACP1 gene:
    Search GeneIP for patents involving ACP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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