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ACP5 Gene

protein-coding   GIFtS: 68
GCID: GC19M011685

Acid Phosphatase 5, Tartrate Resistant

  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 5, Tartrate Resistant1 2     Tartrate-Resistant Acid Phosphatase1
Tartrate-Resistant Acid ATPase2 3     TRAP2
TrATPase2 3     Tartrate-Resistant Acid Phosphatase Type 52
EC 3.1.3.23 8     TR-AP3
SPENCDI2 5     Type 5 Acid Phosphatase3

External Ids:    HGNC: 1241   Entrez Gene: 542   Ensembl: ENSG000001025757   OMIM: 1716405   UniProtKB: P136863   

Export aliases for ACP5 gene to outside databases

Previous GC identifers: GC19M011816 GC19M011909 GC19M011530 GC19M011546 GC19M011259


(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 ACP5 Gene:
This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to
alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by
L(+)-tartrate. (provided by RefSeq, Aug 2008)

GeneCards Summary for ACP5 Gene:
ACP5 (acid phosphatase 5, tartrate resistant) is a protein-coding gene. Diseases associated with ACP5 include villonodular synovitis, and pigmented villonodular synovitis. GO annotations related to this gene include ferrous iron binding and acid phosphatase activity.

UniProtKB/Swiss-Prot: PPA5_HUMAN, P13686
Function: Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain
pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias

Gene Wiki entry for ACP5 (Tartrate-resistant acid phosphatase) 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_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACP5 gene promoter:
         CREB   GCNF   deltaCREB   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACP5 promoter sequence
   Search Chromatin IP Primers for ACP5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACP5


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

ACP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACP5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M011685:  view genomic region     (about GC identifiers)

Start:
11,685,475 bp from pter      End:
11,689,823 bp from pter
Size:
4,349 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PPA5_HUMAN, P13686 (See protein sequence)
Recommended Name: Tartrate-resistant acid phosphatase type 5 precursor  
Size: 325 amino acids; 36599 Da
Cofactor: Binds 2 iron ions per subunit
Subunit: Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide
bond(s)
2 PDB 3D structures from and Proteopedia for ACP5:
1WAR (3D)        2BQ8 (3D)    
Secondary accessions: A8K3V2 Q2TAB1 Q6IAS6 Q9UCJ5 Q9UCJ6 Q9UCJ7

Explore the universe of human proteins at neXtProt for ACP5: NX_P13686

Explore proteomics data for ACP5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys222
  • Glycosylation2 at Asn116, Asn147
  • Selected DME Specific Peptides for ACP5 (P13686) (see all 8)
     SKRWNFPSP  WSIAEHGPT  EASGKSLFKT  GNVSAQIAYSK 


    See ACP5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001104504.1  NP_001104505.1  NP_001104506.1  NP_001602.1  

    ENSEMBL proteins: 
     ENSP00000218758   ENSP00000392374   ENSP00000468767   ENSP00000413456   ENSP00000468509  
     ENSP00000465127   ENSP00000468685   ENSP00000464831   ENSP00000465498  
    Reactome Protein details: P13686

    ACP5 Human Recombinant Protein Products:

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    ACP5 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for ACP5

    ACP5 Assay Products:

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    GenScript Custom Assay Services for ACP5
    Enzo Life Sciences assays for ACP5
    Cloud-Clone Corp. ELISAs for ACP5
    Cloud-Clone Corp. CLIAs for ACP5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024927 Acid_Pase_5
     IPR004843 PEstase_dom

    Graphical View of Domain Structure for InterPro Entry P13686

    ProtoNet protein and cluster: P13686

    UniProtKB/Swiss-Prot: PPA5_HUMAN, P13686
    Similarity: Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family


    ACP5 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: PPA5_HUMAN, P13686
    Function: Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain
    pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias
    Catalytic activity: A phosphate monoester + H(2)O = an alcohol + phosphate

         Genatlas biochemistry entry for ACP5:
    phosphatase acid,tartrate resistant

         Enzyme Number (IUBMB): EC 3.1.3.21 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003993acid phosphatase activity TAS--
    GO:0008198ferrous iron binding IDA15993892
    GO:0008199ferric iron binding IDA15993892
    GO:0016787hydrolase activity ----
         
    ACP5 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACP5:
     Decreased focal adhesion (FA)   Increased cell number in G1, a  Weaker migration 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acp5):
     hematopoietic system  immune system  limbs/digits/tail  skeleton 

    ACP5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acp5tm1Ahdm for ACP5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACP5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACP5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACP5

    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): ACP5 (NM_001611)
    Sino Biological Human cDNA Clone for ACP5
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACP5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACP5


    (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
    PPA5_HUMAN, P13686: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    cytosol4
    extracellular3
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0005829cytosol TAS--
    GO:0016021integral component of membrane TAS2338077

    ACP5 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 ACP5 About   (see all 10)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Purine metabolism (KEGG)
    ATP ITP metabolism0.31
    4RANK Signaling in Osteoclasts
    RANKL/RANK Signaling Pathway0.31
    5Riboflavin metabolism
    Riboflavin metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ACP5
        ATP/ITP metabolism

    2 BioSystems Pathways for ACP5
        RANKL/RANK Signaling Pathway
    Osteoclast Signaling


    1 Reactome Pathway for ACP5
        Vitamin B2 (riboflavin) metabolism


    4 Kegg Pathways  (Kegg details for ACP5):
        Riboflavin metabolism
    Lysosome
    Osteoclast differentiation
    Rheumatoid arthritis


    ACP5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACP5
    Interactions:

        GeneGlobe Interaction Network for ACP5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for ACP5 (P136862, 3 ENSP000002187584) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK9P459842, 3, ENSP000003214104MINT-64907 I2D: score=4 STRING: ENSP00000321410
    SNRNP40Q96DI72, 3, ENSP000002636944MINT-65122 I2D: score=4 STRING: ENSP00000263694
    PPP2CBP627142, 3, ENSP000002211384MINT-8267129 I2D: score=2 STRING: ENSP00000221138
    EGR2P111612, 3MINT-63454 I2D: score=5 
    PDCD5O147372, 3MINT-63066 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006771riboflavin metabolic process TAS--
    GO:0016311dephosphorylation ----
    GO:0032496response to lipopolysaccharide IEA--

    ACP5 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 ACP5 (PPA5)

    Selected HMDB Compounds for ACP5 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    4-Nitrophenol1-Hydroxy-4-nitrobenzene (see all 8)100-02-7--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    IronArmco iron (see all 19)7439-89-6--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    Selected Novoseek inferred chemical compound relationships for ACP5 gene (see all 50)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tartrate 90.5 71 8127141 (3), 12594102 (2), 2242429 (1), 10893685 (1) (see all 60)
    deoxypyridinoline 71.4 26 8911707 (3), 8352070 (3), 18256306 (2), 19520194 (2) (see all 12)
    pyridinoline 65.8 19 8352070 (3), 7785468 (2), 9580479 (1), 12525759 (1) (see all 8)
    hydroxyproline 56.6 23 7561234 (2), 8304043 (2), 7785468 (2), 7799895 (2) (see all 14)
    calcitriol 52.8 6 10893685 (1), 2323362 (1), 19057837 (1), 9312160 (1) (see all 5)
    1,25 dihydroxy vitamin d3 48.1 1 2323362 (1)
    procollagen 47.4 5 10354264 (1), 15252851 (1), 8879839 (1)
    hydroxyapatite 33.6 4 11336305 (2), 9878526 (1)
    clodronate 30.7 3 20101852 (2), 7671161 (1)
    toluidine 30.4 4 15293474 (1), 18773818 (1)



    ACP5 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,
    Conferences by KenesGroup, 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 ACP5 gene (4 alternative transcripts): 
    NM_001111034.1  NM_001111035.1  NM_001111036.1  NM_001611.3  

    Unigene Cluster for ACP5:

    Acid phosphatase 5, tartrate resistant
    Hs.1211  [show with all ESTs]
    Unigene Representative Sequence: BM804974
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000218758(uc002msh.4 uc002msi.4 uc010dye.1) ENST00000412435(uc002msj.4)
    ENST00000592828 ENST00000433365(uc002msg.4) ENST00000590420 ENST00000588625
    ENST00000588524 ENST00000590832 ENST00000588079 ENST00000589792 ENST00000591319
    ENST00000592659
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ACP5

    Additional mRNA sequence: 

    AK225912.1 AK290717.1 AK307164.1 BC025414.2 BC111014.1 CR457078.1 J04430.1 X14618.1 

    20 DOTS entries:

    DT.100709596  DT.100813137  DT.95152222  DT.453685  DT.100813140  DT.100029488  DT.121462889  DT.100813139 
    DT.95196730  DT.100834376  DT.121462939  DT.121462950  DT.91731286  DT.121462876  DT.121463016  DT.121463190 
    DT.121629898  DT.40248088  DT.91731291  DT.95088531 

    Selected AceView cDNA sequences (see all 214):

    CD364387 CA309190 BM686163 BX385205 CD367472 BX380526 BQ877398 BU621148 
    BM707781 BM014419 BC025414 CD370690 AV646064 BP366585 BQ576214 CD367224 
    CA430104 BI836642 AI652323 BU731670 CA308313 AA294988 BU626763 BI820158 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACP5 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for ACP5

    (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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    ACP5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCCCAGCC
    ACP5 Expression
    About this image


    ACP5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Stylopod Long Bone
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
     
     Lung (Respiratory System)
    ACP5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACP5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1211
        Custom PCR Arrays for ACP5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACP5

    (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 eukaryotes.

    Orthologs for ACP5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acp55 acid phosphatase 5, tartrate resistant   --   9 (8.38 cM) 22126731 
    lizard
    (Anolis carolinensis)
    Reptilia ACP56
    acid phosphatase 5, tartrate resistant
    69(a)
    1 ↔ 1
    2(78451256-78460079)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.27082 Xenopus laevis transcribed sequence with weak similarity more 76.67(n)    BX844036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb30b032 Danio rerio cDNA clone MGC63825 IMAGE3816467, complete more 72.01(n)    BC055256.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F02E9.73
    CELE_F02E9.71
    acid phosphatase3
    CELE_F02E9.71
    36(a)3
    46.21(n)1
    40.68(a)1
      I(8421352-8424146)3
    1726271  NM_059882.41  NP_492283.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G252301 AT1G25230 45.51(n)
    35(a)
      839105  NM_102332.3  NP_173894.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g05496151 Os11g0549615 48.41(n)
    36.09(a)
      9270602  NM_001189660.1  NP_001176589.1 


    ENSEMBL Gene Tree for ACP5 (if available)
    TreeFam Gene Tree for ACP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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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    Selected SNPs for ACP5 (see all 217)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659204
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659202 K M mis40--------
    VAR_0659264
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659262 N H mis40--------
    VAR_0659214
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659212 T I mis40--------
    VAR_0659254
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659252 D N mis40--------
    VAR_0659224
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659222 G R mis40--------
    VAR_0659234
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659232 L P mis40--------
    VAR_0659244
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659242 G R mis40--------
    VAR_0659274
    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)4--see VAR_0659272 M K mis40--------
    rs795255311,2
    C,F--11266071(+) CCTGTG/ACGTTC 2 -- us2k12Minor allele frequency- A:0.09NA EA 240
    rs1490940951,2
    --11621844(+) TATTTA/TTTTTT 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for ACP5 (11685475 - 11689823 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ACP5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv991647CNV Deletion20482838
    nsv509721CNV Insertion20534489
    nsv911062CNV Loss21882294
    nsv519802CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACP5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACP5
    DNA2.0 Custom Variant and Variant Library Synthesis for ACP5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 171640   
    OMIM disorders: 607944  
    UniProtKB/Swiss-Prot: PPA5_HUMAN, P13686
  • Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]: A disease characterized by
    vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to
    autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and
    metaphyseal lesions that represent islands of chondroid tissue within bone. Note=The disease is caused by
    mutations affecting the gene represented in this entry. ACP5 inactivating mutations result in a functional excess
    of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease

  • Selected diseases for ACP5 (see all 56):    
    About MalaCards
    villonodular synovitis    pigmented villonodular synovitis    hairy cell leukemia of spleen    spondyloenchondrodysplasia
    spondyloenchondrodysplasia with immune dysregulation    bone giant cell tumor    osteomyelitis    hairy cell leukemia
    camurati-engelmann disease    renal osteodystrophy    synovitis    osteonecrosis
    giant cell tumor    juvenile rheumatoid arthritis    hyperthyroidism    gaucher's disease
    metaphyseal dysplasia    paget's disease of bone    hyperparathyroidism    hemiplegia


    ACP5 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ACP5 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoclastoma 85 6 7768539 (1), 10784406 (1), 8463220 (1), 11838317 (1) (see all 5)
    leukemia hairy cell 80 14 9888357 (1), 15222122 (1), 9145320 (1), 9291460 (1) (see all 14)
    bone destruction 67.9 1 9145320 (1)
    bone diseases 64.1 5 16869970 (2), 2402608 (1), 17088078 (1)
    bone loss 63.9 1 17963952 (1)
    osteoporosis 60.5 1 19639269 (1)
    osteolysis 58.8 3 20307736 (1), 9730060 (1), 15513686 (1)
    bone diseases metabolic 53.9 2 1750188 (1), 1767245 (1)
    gaucher disease 52.7 6 9291460 (1), 10784406 (1), 11373314 (1), 8618440 (1) (see all 6)
    rheumatoid arthritis 48.5 4 19333923 (1), 11020469 (1), 12594102 (1)

    Genetic Association Database (GAD): ACP5
    Human Genome Epidemiology (HuGE) Navigator: ACP5 (2 documents)

    Export disorders for ACP5 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 ACP5 gene, integrated from 10 sources (see all 359):
    (articles sorted by number of sources associating them with ACP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. (PubMed id 2338077)1, 2, 3 Lord D.K.... Cox T.M. (Eur. J. Biochem. 1990)
    2. Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9. (PubMed id 8449511)1, 3, 9 Grimes R....Windle J.J. (Genomics 1993)
    3. Purification and N-terminal amino acid sequence of the tartrate- resistant acid phosphatase from human osteoclastoma: evidence for a single structure. (PubMed id 2334436)1, 2, 9 Stepan J.J.... Baylink D.J. (Biochem. Biophys. Res. Commun. 1990)
    4. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. (PubMed id 21217752)1, 2 Lausch E.... Superti-Furga A. (Nat. Genet. 2011)
    5. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. (PubMed id 21217755)1, 2 Briggs T.A.... Crow Y.J. (Nat. Genet. 2011)
    6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    7. A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group. (PubMed id 18285546)1, 4 French D....Relling M.V. (Blood 2008)
    8. Crystal structures of recombinant human purple acid phosphatase with and without an inhibitory conformation of the repression loop. (PubMed id 15993892)1, 2 Straeter N.... Guss J.M. (J. Mol. Biol. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Isolation and characterization of the genes encoding mouse and human type-5 acid phosphatase. (PubMed id 8359686)1, 2 Cassady A.I.... Hume D.A. (Gene 1993)

    (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: 54 HGNC: 124 AceView: ACP5 Ensembl:ENSG00000102575 euGenes: HUgn54
    ECgene: ACP5 Kegg: 54 H-InvDB: ACP5

    (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 ACP5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACP5 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Tartrate-resistant_acid_phosphatase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACP5 gene:
    Search GeneIP for patents involving ACP5

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



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