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Aliases for ACP5 Gene

Aliases for ACP5 Gene

  • Acid Phosphatase 5, Tartrate Resistant 2 3
  • Tartrate-Resistant Acid ATPase 3 4
  • EC 3.1.3.2 4 64
  • TrATPase 3 4
  • SPENCDI 3 6
  • Tartrate-Resistant Acid Phosphatase Type 5 3
  • Tartrate-Resistant Acid Phosphatase 2
  • Type 5 Acid Phosphatase 4
  • TR-AP 4
  • TRAP 3

External Ids for ACP5 Gene

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 Disease and Lysosome. GO annotations related to this gene include ferrous iron binding and acid phosphatase activity.

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

Genomic Location for ACP5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACP5 Gene

Regulatory Elements 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; Note=Binds 2 iron ions per subunit.;
    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

Domains for ACP5 Gene

Protein Domains for ACP5 Gene

UniProtKB/Swiss-Prot:

PPA5_HUMAN
Family:
  • Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.:
    • P13686
genes like me logo Genes that share domains with ACP5: view

No data available for Gene Families for ACP5 Gene

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:0003993 acid phosphatase activity TAS --
GO:0008198 ferrous iron binding IDA 15993892
GO:0008199 ferric iron binding IDA 15993892
GO:0016787 hydrolase activity --
genes like me logo Genes that share ontologies with ACP5: view
genes like me logo Genes that share phenotypes with ACP5: view

Animal Models for ACP5 Gene

MGI Knock Outs for ACP5:

No data available for miRNA , Transcription Factor Targeting 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
lysosome 5
vacuole 5
cytosol 4
extracellular 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005829 cytosol TAS --
GO:0016021 integral component of membrane TAS 2338077
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ACP5: view

Pathways for ACP5 Gene

SuperPathways 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:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006771 riboflavin metabolic process TAS --
GO:0016311 dephosphorylation IEA --
GO:0032496 response to lipopolysaccharide IEA --
genes like me logo Genes that share ontologies with ACP5: view

Compounds for ACP5 Gene

(14) HMDB Compounds for ACP5 Gene

Compound Synonyms Cas Number PubMed IDs
1-Butanol
  • 1-Butanol
71-36-3
1-Hexanol
  • 1-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
71-41-0
4-Nitrophenol
  • 1-Hydroxy-4-nitrobenzene
100-02-7
Ethanol
  • 1-Hydroxyethane
64-17-5

(50) Novoseek inferred chemical compound relationships for ACP5 Gene

Compound -log(P) Hits PubMed IDs
tartrate 90.5 63
deoxypyridinoline 71.4 18
pyridinoline 65.8 11
hydroxyproline 56.6 18
calcitriol 52.8 5
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:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Lung (6.5).

Integrated Proteomics: protein expression 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 expressions with ACP5: view

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 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACP5 36
  • 84.26 (n)
  • 86.11 (a)
ACP5 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACP5 36
  • 85.2 (n)
  • 90.13 (a)
ACP5 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acp5 16
Acp5 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACP5 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACP5 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acp5 36
  • 81.54 (n)
  • 86.46 (a)
lizard
(Anolis carolinensis)
Reptilia ACP5 37
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2708 36
tropical clawed frog
(Silurana tropicalis)
Amphibia acp5 36
  • 62.79 (n)
  • 59.47 (a)
Str.17055 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4151 36
zebrafish
(Danio rerio)
Actinopterygii acp5a 36
  • 62.27 (n)
  • 61.49 (a)
acp5a 37
  • 55 (a)
OneToOne
wufb30b03 36
worm
(Caenorhabditis elegans)
Secernentea CELE_F02E9.7 36
  • 46.21 (n)
  • 40.68 (a)
F02E9.7 37
  • 28 (a)
OneToOne
F02E9.7 38
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G25230 36
  • 45.51 (n)
  • 35 (a)
rice
(Oryza sativa)
Liliopsida Os11g0549615 36
  • 48.41 (n)
  • 36.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs2071483 -- 11,577,724(-) GCCCT(A/C)GGAGA intron-variant, utr-variant-5-prime
rs2071484 -- 11,577,645(-) ACTCT(A/G)GAGCC utr-variant-5-prime
rs2071485 -- 11,577,385(-) GCAGG(C/T)GGGGG intron-variant
rs2229530 -- 11,576,790(-) TGGTA(C/T)GTGCT reference, synonymous-codon
rs2229531 - 11,576,380(-) ACTAC(A/G)TGCTG missense, reference

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

Relevant External Links for ACP5 Gene

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

Disorders for ACP5 Gene

(1) OMIM Diseases for ACP5 Gene (171640)

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.

(42) Novoseek inferred disease relationships for ACP5 Gene

Disease -log(P) Hits PubMed IDs
osteoclastoma 85 5
leukemia hairy cell 80 14
bone destruction 67.9 1
bone diseases 64.1 4
bone loss 63.9 1

Relevant External Links for ACP5

Genetic Association Database (GAD)
ACP5
Human Genome Epidemiology (HuGE) Navigator
ACP5
genes like me logo Genes that share disorders with ACP5: view

Publications for ACP5 Gene

  1. Purification and N-terminal amino acid sequence of the tartrate- resistant acid phosphatase from human osteoclastoma: evidence for a single structure. (PMID: 2334436) Stepan J.J. … Baylink D.J. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  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. 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
  4. Purification and N-terminal sequence of two tartrate-resistant acid phosphatases type-5 from the hairy cell leukemia spleen. (PMID: 2610679) Stepan J.J. … Baylink D.J. (Biochem. Biophys. Res. Commun. 1989) 3 4
  5. Purification and characterization of a tartrate-resistant acid phosphatase from human osteoclastomas. (PMID: 2775236) Hayman A.R. … Chambers T.J. (Biochem. J. 1989) 3 4

Products for ACP5 Gene

  • Addgene plasmids for ACP5

Sources for ACP5 Gene

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