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Aliases for ACP5 Gene

Aliases for ACP5 Gene

  • Acid Phosphatase 5, Tartrate Resistant 2 3 5
  • Tartrate-Resistant Acid ATPase 3 4
  • Human Purple Acid Phosphatase 2 3
  • EC 3.1.3.2 4 63
  • TrATPase 3 4
  • Tartrate-Resistant Acid Phosphatase 5a 3
  • Tartrate-Resistant Acid Phosphatase 5b 3
  • Tartrate-Resistant Acid Phosphatase 2
  • Type 5 Acid Phosphatase 4
  • TRACP5a 3
  • TRACP5b 3
  • TR-AP 4
  • HPAP 3
  • TRAP 3

External Ids for ACP5 Gene

Previous GeneCards Identifiers for ACP5 Gene

  • GC19M011816
  • GC19M011909
  • GC19M011530
  • GC19M011546
  • GC19M011685
  • GC19M011259

Summaries for ACP5 Gene

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 spondyloenchondrodysplasia with immune dysregulation and spondyloenchondrodysplasia. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include hydrolase activity and ferric iron binding.

UniProtKB/Swiss-Prot for ACP5 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACP5 Gene

Genomics for ACP5 Gene

Regulatory Elements for ACP5 Gene

Promoters for ACP5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACP5 Gene

Chromosome:
19
Start:
11,574,660 bp from pter
End:
11,579,008 bp from pter
Size:
4,349 bases
Orientation:
Minus strand

Genomic View for ACP5 Gene

Genes around ACP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACP5 Gene

Proteins for ACP5 Gene

  • Protein details for ACP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13686-PPA5_HUMAN
    Recommended name:
    Tartrate-resistant acid phosphatase type 5
    Protein Accession:
    P13686
    Secondary Accessions:
    • A8K3V2
    • Q2TAB1
    • Q6IAS6
    • Q9UCJ5
    • Q9UCJ6
    • Q9UCJ7

    Protein attributes for ACP5 Gene

    Size:
    325 amino acids
    Molecular mass:
    36599 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s).

    Three dimensional structures from OCA and Proteopedia for ACP5 Gene

neXtProt entry for ACP5 Gene

Proteomics data for ACP5 Gene at MOPED

Post-translational modifications for ACP5 Gene

  • Glycosylation at Asn 116 and Asn 147
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACP5 (TRACP/PAP/ACP5)

Domains & Families for ACP5 Gene

Gene Families for ACP5 Gene

Protein Domains for ACP5 Gene

Suggested Antigen Peptide Sequences for ACP5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13686

UniProtKB/Swiss-Prot:

PPA5_HUMAN :
  • Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
Family:
  • Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
genes like me logo Genes that share domains with ACP5: view

Function for ACP5 Gene

Molecular function for ACP5 Gene

GENATLAS Biochemistry:
phosphatase acid,tartrate resistant
UniProtKB/Swiss-Prot CatalyticActivity:
A phosphate monoester + H(2)O = an alcohol + phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ACP5 Gene

Gene Ontology (GO) - Molecular Function for ACP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008198 ferrous iron binding IDA 15993892
genes like me logo Genes that share ontologies with ACP5: view
genes like me logo Genes that share phenotypes with ACP5: view

Human Phenotype Ontology for ACP5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ACP5

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACP5 Gene

Localization for ACP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACP5 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACP5 Gene COMPARTMENTS Subcellular localization image for ACP5 gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
vacuole 5
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ACP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ACP5: view

Pathways & Interactions for ACP5 Gene

genes like me logo Genes that share pathways with ACP5: view

Pathways by source for ACP5 Gene

Gene Ontology (GO) - Biological Process for ACP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006766 vitamin metabolic process TAS --
GO:0006771 riboflavin metabolic process TAS --
GO:0007162 negative regulation of cell adhesion IEA --
GO:0010043 response to zinc ion IEA --
genes like me logo Genes that share ontologies with ACP5: view

No data available for SIGNOR curated interactions for ACP5 Gene

Drugs & Compounds for ACP5 Gene

(28) Drugs for ACP5 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Riboflavin Approved Nutra 150
1-Butanol Experimental Pharma 0
1-Proponol Experimental Pharma 0
4-Nitrophenol Experimental Pharma 0
Flavin Mononucleotide Experimental Pharma 6

(36) Additional Compounds for ACP5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
111-27-3
1-Pentanol
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
71-41-0
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl propanol
  • 2-Methyl-1-propanol
  • 2-Methyl-1-propanyl alcohol
  • 2-Methylpropan-1-ol
78-83-1
Isopropyl alcohol
  • 2-Propanol
  • 2-Propyl alcohol
  • Alcojel
  • Alkolave
  • Avantin
67-63-0
genes like me logo Genes that share compounds with ACP5: view

Transcripts for ACP5 Gene

Unigene Clusters for ACP5 Gene

Acid phosphatase 5, tartrate resistant:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACP5 Gene

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: - - -
SP6: -
SP7: - - - - -
SP8:

Relevant External Links for ACP5 Gene

GeneLoc Exon Structure for
ACP5
ECgene alternative splicing isoforms for
ACP5

Expression for ACP5 Gene

mRNA expression in normal human tissues for ACP5 Gene

mRNA differential expression in normal tissues according to GTEx for ACP5 Gene

This gene is overexpressed in Lung (x6.5).

Protein differential expression in normal tissues from HIPED for ACP5 Gene

This gene is overexpressed in Lung (15.0), Bone (10.9), and Kidney (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACP5 Gene



SOURCE GeneReport for Unigene cluster for ACP5 Gene Hs.1211

genes like me logo Genes that share expression patterns with ACP5: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ACP5 Gene

Orthologs for ACP5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACP5 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACP5 36
  • 82 (a)
OneToOne
ACP5 35
  • 84.26 (n)
  • 86.11 (a)
dog
(Canis familiaris)
Mammalia ACP5 35
  • 85.2 (n)
  • 90.13 (a)
ACP5 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acp5 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACP5 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACP5 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acp5 35
  • 81.54 (n)
  • 86.46 (a)
lizard
(Anolis carolinensis)
Reptilia ACP5 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2708 35
tropical clawed frog
(Silurana tropicalis)
Amphibia acp5 35
  • 62.79 (n)
  • 59.47 (a)
Str.17055 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4151 35
zebrafish
(Danio rerio)
Actinopterygii acp5a 36
  • 55 (a)
OneToOne
acp5a 35
  • 62.27 (n)
  • 61.49 (a)
wufb30b03 35
worm
(Caenorhabditis elegans)
Secernentea CELE_F02E9.7 35
  • 46.21 (n)
  • 40.68 (a)
F02E9.7 37
  • 36 (a)
F02E9.7 36
  • 28 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G25230 35
  • 45.51 (n)
  • 35 (a)
rice
(Oryza sativa)
Liliopsida Os11g0549615 35
  • 48.41 (n)
  • 36.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToOne
Species with no ortholog for ACP5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACP5 Gene

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

Paralogs for ACP5 Gene

No data available for Paralogs for ACP5 Gene

Variants for ACP5 Gene

Sequence variations from dbSNP and Humsavar for ACP5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_020602 -
VAR_020603 -
VAR_029288 -
VAR_065920 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
VAR_065921 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)

Structural Variations from Database of Genomic Variants (DGV) for ACP5 Gene

Variant ID Type Subtype PubMed ID
nsv519802 CNV Loss 19592680
nsv911062 CNV Loss 21882294
nsv509721 CNV Insertion 20534489
esv991647 CNV Deletion 20482838

Variation tolerance for ACP5 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.82; 73.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACP5 Gene

HapMap Linkage Disequilibrium report
ACP5
Human Gene Mutation Database (HGMD)
ACP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACP5 Gene

Disorders for ACP5 Gene

MalaCards: The human disease database

(41) MalaCards diseases for ACP5 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spondyloenchondrodysplasia with immune dysregulation
  • combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
spondyloenchondrodysplasia
  • sem
giant cell tumor
  • giant cell neoplasm
bone giant cell tumor
  • giant cell myeloma
hairy cell leukemia
  • hcl
- elite association - COSMIC cancer census association via MalaCards
Search ACP5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPA5_HUMAN
  • 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. {ECO:0000269 PubMed:21217752, ECO:0000269 PubMed:21217755}. 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.

Relevant External Links for ACP5

Genetic Association Database (GAD)
ACP5
Human Genome Epidemiology (HuGE) Navigator
ACP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACP5
genes like me logo Genes that share disorders with ACP5: view

No data available for Genatlas for ACP5 Gene

Publications for ACP5 Gene

  1. Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. (PMID: 2338077) Lord D.K. … Cox T.M. (Eur. J. Biochem. 1990) 2 3 4 67
  2. Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9. (PMID: 8449511) Grimes R. … Windle J.J. (Genomics 1993) 2 3 23
  3. Monomeric tartrate resistant acid phosphatase induces insulin sensitive obesity. (PMID: 18320034) LAYng P. … Arner P. (PLoS ONE 2008) 3 23
  4. Tartrate-resistant acid phosphatase activity and glutathione levels are modulated during hFOB 1.19 osteoblastic differentiation. (PMID: 18979172) de Souza Malaspina T.S. … Granjeiro J.M. (J. Mol. Histol. 2008) 3 23
  5. Human breast cancer cell lines and tissues express tartrate-resistant acid phosphatase (TRAP). (PMID: 17088078) Adams L.M. … Hayman A.R. (Cell Biol. Int. 2007) 3 23

Products for ACP5 Gene

Sources for ACP5 Gene

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