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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 56
  • TrATPase 3 4
  • Tartrate-Resistant Acid Phosphatase Type 5 3
  • 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 RANK Signaling in Osteoclasts and Osteoclast differentiation. Gene Ontology (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

Additional gene information for ACP5 Gene

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

Genomics for ACP5 Gene

GeneHancer (GH) Regulatory Elements for ACP5 Gene

Promoters and enhancers for ACP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I011577 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 581.2 -1.8 -1840 7.4 HDGF PKNOX1 SMAD1 ARNT YBX1 IRF4 TCF12 CBX5 GATA2 ZNF207 ACP5 ILF3 ZNF564 ZNF700 ZNF136 ZNF44 ZNF878 HNRNPA1P10 ZNF442 ZNF799
GH19I011596 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.5 -18.5 -18493 2.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF627 ZNF136 ZNF20 ZNF564 ZNF700 ZNF44 ILF3 ZNF799 ZNF763 PRKCSH
GH19I011569 Enhancer 1 FANTOM5 ENCODE 16.1 +8.7 8685 0.8 KLF1 KLF17 ZIC2 FOXK2 POLR2A PATZ1 ATF7 IKZF2 SMARCE1 ZNF362 ACP5 CCDC159 GC19M011558 ZNF627
GH19I011567 Enhancer 1.4 FANTOM5 Ensembl ENCODE 9.5 +10.7 10744 2.1 HDGF PKNOX1 SMAD1 IRF4 TCF12 ZNF207 FOS ATF7 RUNX3 NCOA1 CCDC159 ACP5 ELOF1 GC19M011558 ZNF627
GH19I011564 Enhancer 1.2 FANTOM5 ENCODE 10.1 +13.8 13761 1.5 PKNOX1 TCF12 POLR2B ZNF766 ATF7 NCOA1 ZNF592 GMEB1 SMARCA4 NCOA4 GC19M011558 ACP5 ZNF439 CCDC159 ELOF1 GC19P011561 ZNF627
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACP5 gene promoter:

Genomic Locations for ACP5 Gene

Genomic Locations for ACP5 Gene
chr19:11,574,660-11,579,008
(GRCh38/hg38)
Size:
4,349 bases
Orientation:
Minus strand
chr19:11,685,475-11,689,823
(GRCh37/hg19)

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

Selected DME Specific Peptides for ACP5 Gene

P13686:
  • WSIAEHGPT
  • LRFVAVGDWGGVPNAPFHTAREMANAK
  • SKRWNFPSP
  • DKRFQETFEDVFSD
  • GNVSAQIAYSK
  • VTAYLCGHDHNLQYLQDENG
  • VLSGAGNFMDPS
  • EASGKSLFKT

Post-translational modifications for ACP5 Gene

  • Glycosylation at Asn116 and Asn147

Antibody Products

  • R&D Systems Antibodies for ACP5 (TRACP/PAP/ACP5)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACP5

Domains & Families for ACP5 Gene

Gene Families for ACP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

Phenotypes From GWAS Catalog 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 IEA --
GO:0046872 metal ion binding IEA --
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

Clone Products

  • Addgene plasmids for ACP5

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACP5 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,HDA 23376485
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

Gene Ontology (GO) - Biological Process for ACP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006771 riboflavin metabolic process TAS --
GO:0016311 dephosphorylation IEA --
GO:0032496 response to lipopolysaccharide IEA --
GO:0032691 negative regulation of interleukin-1 beta production IEA --
GO:0032695 negative regulation of interleukin-12 production 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

(36) Drugs for ACP5 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma Target 0
Phosphoric acid Approved Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
Water Approved Pharma 0
Riboflavin Approved, Investigational, Vet_approved Nutra 188

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

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
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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:

Clone Products

  • Addgene plasmids for ACP5

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ACP5 Gene



NURSA nuclear receptor signaling pathways regulating expression of ACP5 Gene:

ACP5

SOURCE GeneReport for Unigene cluster for ACP5 Gene:

Hs.1211

Evidence on tissue expression from TISSUES for ACP5 Gene

  • Spleen(4.6)
  • Lung(4.5)
  • Skin(4.4)
  • Nervous system(4.2)
  • Bone(3.9)
  • Bone marrow(3.2)
  • Blood(2.9)
  • Kidney(2.8)
  • Lymph node(2.5)
  • Liver(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACP5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • sinus
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ACP5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACP5 33 34
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Acp5 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACP5 33 34
  • 84.26 (n)
rat
(Rattus norvegicus)
Mammalia Acp5 33
  • 81.54 (n)
oppossum
(Monodelphis domestica)
Mammalia ACP5 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACP5 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACP5 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acp5 33
  • 62.79 (n)
Str.17055 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2708 33
zebrafish
(Danio rerio)
Actinopterygii acp5a 33 34
  • 62.27 (n)
wufb30b03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4151 33
worm
(Caenorhabditis elegans)
Secernentea CELE_F02E9.7 33
  • 46.21 (n)
F02E9.7 35 34
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G25230 33
  • 45.51 (n)
rice
(Oryza sativa)
Liliopsida Os11g0549615 33
  • 48.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToOne
Species where no ortholog for ACP5 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs147025508 benign, likely-benign, not specified, not provided, Spondyloenchondrodysplasia with immune dysregulation 11,575,174(-) G/A/C coding_sequence_variant, missense_variant
rs199580546 uncertain-significance, Spondyloenchondrodysplasia with immune dysregulation 11,576,719(-) C/T coding_sequence_variant, missense_variant
rs201184983 uncertain-significance, Spondyloenchondrodysplasia with immune dysregulation 11,577,181(-) C/T coding_sequence_variant, missense_variant
rs202233676 uncertain-significance, Spondyloenchondrodysplasia with immune dysregulation 11,577,073(-) T/A/C coding_sequence_variant, missense_variant
rs2229532 benign, Spondyloenchondrodysplasia with immune dysregulation 11,576,317(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv991647 CNV deletion 20482838
nsv509721 CNV insertion 20534489
nsv519802 CNV loss 19592680

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)

Additional Variant Information for ACP5 Gene

Human Gene Mutation Database (HGMD)
ACP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACP5

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

Disorders for ACP5 Gene

MalaCards: The human disease database

(37) MalaCards diseases for ACP5 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for ACP5

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

No data available for Genatlas for ACP5 Gene

Publications for ACP5 Gene

  1. Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9. (PMID: 8449511) Grimes R … Windle JJ (Genomics 1993) 2 3 22 58
  2. Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. (PMID: 2338077) Lord DK … Cox TM (European journal of biochemistry 1990) 2 3 4 58
  3. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. (PMID: 21217752) Lausch E … Superti-Furga A (Nature genetics 2011) 3 4 58
  4. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. (PMID: 21217755) Briggs TA … Crow YJ (Nature genetics 2011) 3 4 58
  5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 44 58

Products for ACP5 Gene

  • Addgene plasmids for ACP5

Sources for ACP5 Gene

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