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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] See more...
Aliases for ACP5 Gene
Aliases for ACP5 Gene
External Ids for ACP5 Gene
- HGNC: 124
- Entrez Gene: 54
- Ensembl: ENSG00000102575
- OMIM: 171640
- UniProtKB: P13686
Previous GeneCards Identifiers for ACP5 Gene
- GC19M011816
- GC19M011909
- GC19M011530
- GC19M011546
- GC19M011685
- GC19M011259
Summaries 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 Lysosome and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and ferric iron binding.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for ACP5 Gene
- HGNC(124)
- Entrez Gene(54)
- Ensembl(ENSG00000102575)
- OMIM(171640)
- UniProtKB(P13686)
- Open Targets Platform(ENSG00000102575)
- Monarch Initiative
- Search for ACP5 at DataMed
- Search for ACP5 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACP5 Gene
Genomics for ACP5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ACP5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ACP5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACP5
- Top Transcription factor binding sites by QIAGEN in the ACP5 gene promoter:
-
- CREB
- deltaCREB
- GCNF
- STAT5A
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)
- 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:
-
- 19p13.2 by HGNC
- 19p13.2 by Entrez Gene
- 19p13.2 by Ensembl
ACP5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
Other Protein References for ACP5 Gene
Antibody Products
- LifeSpan BioSciences ACP5 / TRAP Monoclonal Antibody
- G Biosciences Immunotag™ TRAP (2H2) monoclonal antibody and Immunotag™ ACP5 Antibody
- NSJ Bioreagents TRAcP Antibody (Mouse Monoclonal)
- HUABIO Anti-ACP5 Antibody
- Novus Biologicals Antibodies for ACP5
-
Abcam antibodies for ACP5
- Invitrogen Antibodies for ACP5 (AFLGC-ACP5)
- antibodies-online: Show 36 available ACP5 Antibodies ranked by validation data
- Compare Top ACP5 Antibodies
-
Recommended
- 72 WB Antibodies (anti-human)
- 40 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 25 WB Antibodies (anti-mouse)
- 24 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 24 IHC (p) Antibodies (anti-rat)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for ACP5
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACP5
- Sino Biological Antibodies for ACP5
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ACP5
- Origene Custom Protein Services for ACP5
- Sino Biological Recombinant Proteins for ACP5
- Sino Biological Cell Lysates for ACP5
- ProSpec Recombinant Proteins for ACP5
-
Signalway Proteins for ACP5
-
Abcam proteins for ACP5
Assay Products
- RayBiotech Human TRACP/PAP/ACP5 ELISA
- Novus Biologicals ELISA Kits for ACP5
- antibodies-online: Show 102 available ACP5 Elisa Kits ranked by validation data
- Compare Top ACP5 Elisa Kits
-
Quality Products:
- ABIN1117331
- ABIN414398
- ABIN365777
- ABIN457078
- ABIN5521690
- ABIN5523666
- ABIN5668762
- ABIN1568127
- ABIN5592698
- ABIN512842
- ABIN1117333
- ABIN415381
- ABIN366320
- ABIN5665053
- ABIN5521691
- ABIN5523667
- ABIN5670117
- ABIN1568128
- ABIN627521
- ABIN5592699
- ABIN1117332
- ABIN416089
- ABIN367458
- ABIN5521692
- ABIN5523668
- ABIN5670793
- ABIN1568129
- ABIN626690
- ABIN5592701
- ABIN772576
- ABIN775850
- ABIN775851
- ABIN774175
- ABIN1567149
- ABIN2683326
- ABIN6208078
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
Protein Domains for ACP5 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACP5 Gene
- GenScript: Design optimal peptide antigens:
-
- Type 5 acid phosphatase (PPA5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P13686UniProtKB/Swiss-Prot:
PPA5_HUMAN :- Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
- Family:
-
- Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family.
Function for ACP5 Gene
Molecular function for ACP5 Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a phosphate monoester + H2O = an alcohol + phosphate; Xref=Rhea:RHEA:15017, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:43474, ChEBI:CHEBI:67140; EC=3.1.3.2;.
- GENATLAS Biochemistry:
- phosphatase acid,tartrate resistant
Enzyme Numbers (IUBMB) for ACP5 Gene
Phenotypes From GWAS Catalog for ACP5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003993 | acid phosphatase activity | TAS,IBA | 21873635 |
| 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 | -- |
Phenotypes for ACP5 Gene
- GenomeRNAi human phenotypes for ACP5:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Decreased viability
- Decreased cell migration
- Decreased HPV16-GFP infection
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased cell number in G1, average or increased nuclei size in G1
- Decreased focal adhesion (FA) abundance, increased peripheral FA formation, decreased cell spreading
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACP5 - Select products 50% OFF >
- * ACP5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACP5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACP5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACP5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACP5
- Browse OriGene Inhibitory RNA Products For ACP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACP5
Clone Products
- Applied Biological Materials (abm): Clones for ACP5 - Select products 50% OFF >
- * ACP5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204798
- MG222711
- MG223059
- MR204798
- MR204798L1
- MR204798L2
- MR204798L3
- MR204798L4
- MR222711
- MR222711L3
- MR222711L4
- MR223059
- MR223059L1
- MR223059L2
- MR223059L3
- MR223059L4
- RC210752
- RC210752L1
- RC210752L2
- RC210752L3
- RC210752L4
- RC225470
- RC225470L3
- RC225470L4
- RC225471
- RC225471L3
- RC225471L4
- RC225473
- RC225473L3
- RC225473L4
- RG210752
- RG225470
- RG225471
- RG225473
- RR213036
- RR213036L3
- RR213036L4
- RR216372
- MR204798L1V
- MR204798L2V
- MR204798L3V
- MR204798L4V
- MR222711L3V
- MR222711L4V
- MR223059L1V
- MR223059L2V
- MR223059L3V
- MR223059L4V
- RC210752L1V
- RC210752L2V
- RC210752L3V
- RC210752L4V
- RC225470L3V
- RC225470L4V
- RC225471L3V
- RC225471L4V
- RC225473L3V
- RC225473L4V
- RR213036L3V
- RR213036L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACP5
- Addgene plasmids for ACP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACP5
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| lysosome | 5 |
| extracellular | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016021 | integral component of membrane | TAS | 2338077 |
Pathways & Interactions for ACP5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.40
|
|
| 3 | Lysosome |
-
|
|
| 4 | Osteoclast differentiation | ||
| 5 | Rheumatoid arthritis | ||
Pathways by source for ACP5 Gene
2 BioSystems pathways for ACP5 Gene
4 Reactome pathways for ACP5 Gene
5 KEGG pathways for ACP5 Gene
1 GeneGo (Thomson Reuters) pathway for ACP5 Gene
- ATP/ITP metabolism
Interacting Proteins for ACP5 Gene
GPS-Prot Interaction Network for ACP5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001503 | ossification | IBA | 21873635 |
| 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 | -- |
Drugs & Compounds for ACP5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Iron | Approved, Experimental | Pharma | 1560 | |||
| Flavin Mononucleotide | Approved, Investigational | Pharma | 12 | |||
| Isopropyl alcohol | Approved, Investigational | Pharma | 0 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Propyl alcohol | Approved, Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1-Hexanol |
|
111-27-3 |
|
|||
| 1-Pentanol |
|
71-41-0 |
|
|||
| Isobutanol |
|
78-83-1 |
|
|||
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
Transcripts for ACP5 Gene
mRNA/cDNA for ACP5 Gene
- 5 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000648477 1381 nts (view in UCSC)
- ENST00000218758 1630 nts (view in UCSC)
- ENST00000412435 1527 nts (view in UCSC)
- ENST00000590420 301 nts (view in UCSC)
- ENST00000588625 438 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACP5 - Select products 50% OFF >
- * ACP5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACP5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACP5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACP5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACP5
- Browse OriGene Inhibitory RNA Products For ACP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACP5
Clone Products
- Applied Biological Materials (abm): Clones for ACP5 - Select products 50% OFF >
- * ACP5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204798
- MG222711
- MG223059
- MR204798
- MR204798L1
- MR204798L2
- MR204798L3
- MR204798L4
- MR222711
- MR222711L3
- MR222711L4
- MR223059
- MR223059L1
- MR223059L2
- MR223059L3
- MR223059L4
- RC210752
- RC210752L1
- RC210752L2
- RC210752L3
- RC210752L4
- RC225470
- RC225470L3
- RC225470L4
- RC225471
- RC225471L3
- RC225471L4
- RC225473
- RC225473L3
- RC225473L4
- RG210752
- RG225470
- RG225471
- RG225473
- RR213036
- RR213036L3
- RR213036L4
- RR216372
- MR204798L1V
- MR204798L2V
- MR204798L3V
- MR204798L4V
- MR222711L3V
- MR222711L4V
- MR223059L1V
- MR223059L2V
- MR223059L3V
- MR223059L4V
- RC210752L1V
- RC210752L2V
- RC210752L3V
- RC210752L4V
- RC225470L3V
- RC225470L4V
- RC225471L3V
- RC225471L4V
- RC225473L3V
- RC225473L4V
- RR213036L3V
- RR213036L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACP5
- Addgene plasmids for ACP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACP5
| 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
Expression 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 (x6.5).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACP5
SOURCE GeneReport for Unigene cluster for ACP5 Gene:
Hs.1211Evidence on tissue expression from TISSUES for ACP5 Gene
- Spleen(4.6)
- Skin(4.6)
- Lung(4.6)
- Nervous system(4.4)
- Bone(3.9)
- Bone marrow(3.4)
- Kidney(3.4)
- Blood(3.2)
- Lymph node(3)
- Liver(2.9)
- Intestine(2.8)
- Stomach(2.4)
- Muscle(2.4)
- Heart(2.3)
- Urine(2.2)
- Thyroid gland(2.1)
- Eye(2.1)
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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for ACP5
-
OriGene qPCR primer pairs and template standards for ACP5
Gene Expression Assay Products
No data available for 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ACP5 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ACP5 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Acp5 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ACP5 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Acp5 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ACP5 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ACP5 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ACP5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acp5 30 |
|
||
| Str.17055 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2708 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | acp5a 30 31 |
|
OneToOne | |
| wufb30b03 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4151 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_F02E9.7 30 |
|
||
| F02E9.7 31 32 |
|
OneToOne | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G25230 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os11g0549615 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for ACP5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACP5: view image
Paralogs for ACP5 Gene
No data available for Paralogs for ACP5 Gene
Variants for ACP5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACP5 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638974 | Uncertain Significance: Spondyloenchondrodysplasia with immune dysregulation | 11,576,391(-) | C/T | MISSENSE_VARIANT | |
| 639443 | Uncertain Significance: Spondyloenchondrodysplasia with immune dysregulation | 11,575,183(-) | G/A | MISSENSE_VARIANT | |
| 639798 | Uncertain Significance: Spondyloenchondrodysplasia with immune dysregulation | 11,575,159(-) | C/T | MISSENSE_VARIANT | |
| 640476 | Uncertain Significance: Spondyloenchondrodysplasia with immune dysregulation | 11,577,155(-) | C/T | MISSENSE_VARIANT | |
| 642371 | Uncertain Significance: Spondyloenchondrodysplasia with immune dysregulation | 11,575,222(-) | C/G | MISSENSE_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACP5 Gene
Disorders for ACP5 Gene
(55) MalaCards diseases for ACP5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondyloenchondrodysplasia with immune dysregulation |
|
|
| spondyloenchondrodysplasia |
|
|
| hairy cell leukemia |
|
|
| bone giant cell tumor |
|
|
| tendinitis |
|
|
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
- Open Targets Platform
No data available for Genatlas for ACP5 Gene
Publications for ACP5 Gene
- Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9. (PMID: 8449511) Grimes R … Windle JJ (Genomics 1993) 2 3 23
- 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
- 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
- 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
- Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 41
ExternalLinks
Products for ACP5 Gene
- View all 6 R&D Systems ACP5 (TRACP/PAP/ACP5) Products
- View all R&D Systems ACP5 (TRACP/PAP/ACP5) Proteins and Enzymes
- View all 3 R&D Systems ACP5 (TRACP/PAP/ACP5) Primary Antibodies
- View all R&D Systems ACP5 (TRACP/PAP/ACP5) Luminex Assays
- View all R&D Systems ACP5 (TRACP/PAP/ACP5) Proteome Profiler Antibody Arrays
- Learn more about R&D Systems custom ACP5 antibody, protein, and immunoassay development services
- Custom Antibody Services
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACP5
- Browse OriGene Inhibitory RNA Products For ACP5
- OriGene qPCR primer pairs for ACP5
- OriGene qPCR primer pairs and template standards for ACP5
- OriGene CRISPR knockouts for ACP5
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- MR204798
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- RR213036
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- MR204798L1V
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- MR222711L3V
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- MR223059L1V
- MR223059L2V
- MR223059L3V
- MR223059L4V
- RC210752L1V
- RC210752L2V
- RC210752L3V
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- RC225470L3V
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- RC225471L3V
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- RC225473L3V
- RC225473L4V
- RR213036L3V
- RR213036L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ACP5
- Sino Biological Human cDNA Clone for ACP5
- Sino Biological Recombinant Proteins for ACP5
- Sino Biological Cell Lysates for ACP5
- Sino Biological Antibodies for ACP5
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
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- Novus Biologicals proteins and lysates for ACP5
- Novus Biologicals ELISA Kits for ACP5
- Browse Antibodies
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- Abcam proteins for ACP5
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- VectorBuilder Custom and pre-made DNA vectors for ACP5 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ACP5 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ACP5 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ACP5 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ACP5
- Addgene plasmids for ACP5
- antibodies-online: Show 36 available ACP5 Antibodies ranked by validation data
- Compare Top ACP5 Antibodies
- Recommended
- 72 WB Antibodies (anti-human)
- 40 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 25 WB Antibodies (anti-mouse)
- 24 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 24 IHC (p) Antibodies (anti-rat)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- antibodies-online: Show 102 available ACP5 Elisa Kits ranked by validation data
- Compare Top ACP5 Elisa Kits
- Quality Products:
- ABIN1117331
- ABIN414398
- ABIN365777
- ABIN457078
- ABIN5521690
- ABIN5523666
- ABIN5668762
- ABIN1568127
- ABIN5592698
- ABIN512842
- ABIN1117333
- ABIN415381
- ABIN366320
- ABIN5665053
- ABIN5521691
- ABIN5523667
- ABIN5670117
- ABIN1568128
- ABIN627521
- ABIN5592699
- ABIN1117332
- ABIN416089
- ABIN367458
- ABIN5521692
- ABIN5523668
- ABIN5670793
- ABIN1568129
- ABIN626690
- ABIN5592701
- ABIN772576
- ABIN775850
- ABIN775851
- ABIN774175
- ABIN1567149
- ABIN2683326
- ABIN6208078
- antibodies-online: Show 23 available ACP5 Proteins ranked by validation data
- Compare Top ACP5 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ACP5
- Search Santa Cruz Biotechnology (SCBT) for ACP5 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ACP5
- Custom Antibody ServicesProSci Antibodies for ACP5
- Search for ACP5 Proteins at ProSci
- Horizon Cell Lines for ACP5
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACP5
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ACP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACP5
Sources for ACP5 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
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- (115) NCBI Bookshelf
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- (119) UDN
- (120) VISTA
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB