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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACP5 Gene

protein-coding GIFtS: 67
GCID: GC19M011685

acid phosphatase 5, tartrate resistant

Explore 65 diseases affiliated with
ACP5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Acid Phosphatase 5, Tartrate Resistant¹ ²		SPENCDI²
TRAP¹ ²		Tartrate-Resistant Acid Phosphatase Type 5²
Tartrate-Resistant Acid ATPase² ³		TR-AP³
TrATPase² ³		Type 5 Acid Phosphatase³
EC 3.1.3.2³ ⁸

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACP5:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACP5 gene promoter:
CREB GCNF deltaCREB STAT5A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACP5 promoter sequence

Search SABiosciences Chromatin IP Primers for ACP5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)

Subcellular location: Lysosome

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13686

4/8 DME Specific Peptides for ACP5 (P13686) (see all 8)

SKRWNFPSP

WSIAEHGPT

EASGKSLFKT

GNVSAQIAYSK

ACP5 Protein expression data from MOPED and PaxDb: About this image

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
Human Recombinant Protein Products:

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	Novus Biologicals ACP5 Proteins Novus Biologicals ACP5 Lysates
	Sino Biological Recombinant Protein for ACP5
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ACP5

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IEA	--
GO:0005829	cytosol	TAS	--
GO:0016021	integral to membrane	TAS	2338077

ACP5 for ontologies About GeneDecksing

ACP5 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ACP5
	R&D Systems Antibodies for ACP5 (TRACP/PAP/ACP5)
	OriGene Antibodies: ACP5 OriGene Custom Antibody Services for ACP5
	GenScript Custom Superior Antibodies Services for ACP5
	Novus Biologicals ACP5 Antibodies
	Search for Antibodies for ACP5 at Abcam
	Uscn Antibodies for ACP5
	ThermoFisher Antibodies for ACP5

Assay Products for ACP5:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for ACP5 (TRACP/PAP/ACP5)
	GenScript Custom Assay Services for ACP5
	Enzo Life Sciences assays for ACP5
	Uscn ELISAs and CLIAs for ACP5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACP5 for domains About GeneDecksing

2 InterPro domains/families:

IPR024927 Acid_Pase_5

IPR004843 Metallo_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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		OriGene 3'-UTR Clone (see all 4): ACP5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACP5
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ACP5
		SwitchGear 3'UTR luciferase reporter plasmid: ACP5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACP5 (see all 7) OriGene shRNA RFP: ACP5 OriGene siRNA: ACP5
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACP5

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACP5

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACP5
		Search LifeMap BioReagents cell lines for ACP5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACP5

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

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

ACP5 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ACP5:

Decreased focal adhesion (FA)

Increased cell number in G1, a

Weaker migration

Animal Models:
Mouse knock-out Acp5^tm1Ahdm for ACP5
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Acp5):

immune system

limbs/digits/tail

skeleton

ACP5 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

ATP/ITP metabolism

ATP/ITP metabolism

1.00

ATP/ITP metabolism

0.98

Riboflavin metabolism

Riboflavin metabolism

1.00

Vitamin B2 (riboflavin) metabolism

0.33

Vitamin B5 (pantothenate) metabolism

Metabolism of vitamins and cofactors

0.21

Metabolism of water-soluble vitamins and cofactors

0.21

Metabolism

Metabolism

1.00

Osteoclast Signaling

Osteoclast Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ACP5

ATP/ITP metabolism

1 GeneGo (Thomson Reuters) Pathway for ACP5

ATP/ITP metabolism

2 BioSystems Pathways for ACP5

	RANKL/RANK Signaling Pathway
	Osteoclast Signaling

4 Reactome Pathways for ACP5

	Metabolism
	Metabolism of vitamins and cofactors
	Metabolism of water-soluble vitamins and cofactors
	Vitamin B2 (riboflavin) metabolism

4 Kegg Pathways (Kegg details for ACP5):

	Riboflavin metabolism
	Lysosome
	Osteoclast differentiation
	Rheumatoid arthritis

ACP5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACP5

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/18 Interacting proteins for ACP5 (P13686^{2, 3} ENSP00000218758⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAPK9	P45984²^,³, ENSP00000321410⁴	MINT-64907 I2D: score=4 STRING: ENSP00000321410
SNRNP40	Q96DI7²^,³, ENSP00000263694⁴	MINT-65122 I2D: score=4 STRING: ENSP00000263694
PPP2CB	P62714²^,³, ENSP00000221138⁴	MINT-8267129 I2D: score=2 STRING: ENSP00000221138
EGR2	P11161²^,³	MINT-63454 I2D: score=5
PDCD5	O14737²^,³	MINT-63066 I2D: score=5

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

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	--	--
GO:0032496	response to lipopolysaccharide	--	--

ACP5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACP5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACP5

10/14 HMDB Compounds for ACP5 (see all 14) About this table

Compound	Synonyms	CAS #	PubMed Ids
1-Butanol	1-Butanol (see all 10)	71-36-3	--
1-Hexanol	1-Hexyl alcohol (see all 30)	111-27-3	--
1-Pentanol	1-Pentol (see all 34)	71-41-0	--
4-Nitrophenol	1-Hydroxy-4-nitrobenzene (see all 8)	100-02-7	--
Ethanol	1-Hydroxyethane (see all 57)	64-17-5	--
Flavin Mononucleotide	FMN (see all 19)	146-17-8	--
Iron	Armco iron (see all 19)	7439-89-6	--
Isobutanol	1-Hydroxymethylpropane (see all 18)	78-83-1	--
Isopropyl alcohol	2-Propanol (see all 12)	67-63-0	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--

10/50 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about ACP5 / PPA5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACP5
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 4): ACP5 (NM_001611)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACP5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACP5

Additional cDNA 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

24/214 AceView cDNA sequences (see all 214):

BQ683467 BM919802 CA308262 BU733290 CA309190 BM707781 BU733177 CA308313

BI758239 BQ877398 CR618497 CR616016 BU731797 BX378750 BQ445828 CR602962

BM686163 CD367224 BU732014 BI820158 CA436118 BM662527 NM_001611 BM992573

GeneLoc Exon Structure

5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACP5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTCCCAGCC

About this image

ACP5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Bone

Cartilage

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

See ACP5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACP5

SOURCE GeneReport for Unigene cluster: Hs.1211

SABiosciences Custom PCR Arrays for ACP5

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACP5 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACP5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACP5

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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACP5 gene from 7/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Acp5^{1 , 5}	acid phosphatase 5, tartrate resistant^{1, 5}	81.44(n)¹ 85.54(a)¹		9 (8.38 cM)⁵ 11433¹ NM_001102404.1¹ NP_001095874.1¹ 22126731⁵
lizard (Anolis carolinensis)	Reptilia	ACP5⁶	--	67(a)	1 ↔ 1	2(78451316-78458536)
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 Protein F02E9.7¹	36(a)³ 46.08(n)¹ 40.96(a)¹		I(8421352-8424146)³ 172627¹ NM_059882.3¹ NP_492283.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PAP8⁶ PAP7⁶ (see all 5)	purple acid phosphatase 7 (see all 5)	27(a) 25(a) (see all 5)	many → 1 many → 1 (see all 5)	2(396768-399208) 2(391423-394032)
rice (Oryza sativa)	Liliopsida	Os11g0549620¹	hypothetical protein	48.27(n) 34.05(a)		9266367 NM_001189661.1 NP_001176590.1

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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79525531^1,2	F,	--	11266071(+)	`CCTGTG/ACGTTC`	2	--	us2k¹		2		NA EA	240
rs149094095^1,2		--	11685041(+)	`TATTTA/TTTTTT`	4	--	ds500¹		0	--	--	--	--
rs183217480^1,2		--	11685085(+)	`TTTCAC/TCCAGG`	4	--	ds500¹		0	--	--	--	--
rs10425533^1,2	C,F,A,	--	11685170(+)	`CTCCCG/AAGTAG`	4	--	ds500¹		5		NA WA CSA	9
rs188178338^1,2		--	11685187(+)	`CTACAC/GGCACC`	4	--	ds500¹		0	--	--	--	--
rs192973783^1,2		--	11685235(+)	`AGAGAC/TGGGGT`	4	--	ds500¹		0	--	--	--	--
rs147895210^1,2		--	11685287(+)	`TGATCC/TGCCCA`	4	--	ds500¹		0	--	--	--	--
rs77301214^1,2	C	--	11685323(+)	`TACAGC/GTGTGA`	4	--	ds500¹		0	--	--	--	--
rs183540342^1,2		--	11685354(+)	`TTTATA/GATCAC`	4	--	ds500¹		0	--	--	--	--
rs187902721^1,2		--	11685364(+)	`CATCCA/GTGGAT`	4	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ACP5 (11685475 - 11689823 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACP5: --
Human Gene Mutation Database (HGMD): ACP5

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ACP5 for disorders About GeneDecksing

OMIM gene information: 171640 OMIM disorders: --

UniProtKB/Swiss-Prot: PPA5_HUMAN, P13686

Defects in ACP5 are the cause of 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=ACP5 inactivating mutations

result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and

consequential autoimmune disease

20/65 diseases for ACP5 (see all 65): About MalaCards

camurati-engelmann disease pigmented villonodular synovitis villonodular synovitis hairy cell leukemia of spleen

osteoporosis, postmenopausal hairy cell leukemia bone giant cell tumor osteogenesis imperfecta

renal osteodystrophy spondyloenchondrodysplasia giant cell tumor type 2 diabetes mellitus

metaphyseal dysplasia primary biliary cirrhosis hyperparathyroidism gaucher's disease

juvenile rheumatoid arthritis rheumatoid arthritis paget's disease of bone synovitis

10/42 Novoseek 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)

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 9 sources (see all 354):
(articles sorted by number of sources associating them with ACP5)

Utopia: connect your pdf to the dynamic
world of online information

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. (1990)
Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9. (PubMed id 8449511)^{1, 3, 9} Grimes R....Windle J.J. (1993)
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. (1990)
Genetic deficiency of tartrate-resistant acid phospha tase associated with skeletal dysplasia, cerebral calcifications and autoimmuni ty. (PubMed id 21217752)^{1, 2} Lausch E....Superti-Furga A. (2011)
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatur e. (PubMed id 21217755)^{1, 2} Briggs T.A....Crow Y.J. (2011)
Crystal structures of recombinant human purple Acid phosphatase with and without an inhibitory conformation of the repression loop. (PubMed id 15993892)^{1, 2} Strater N....Guss J.M. (2005)
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. (2004)
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. (1993)
Tartrate-resistant acid phosphatase from human osteoclastomas is translated as a single polypeptide. (PubMed id 1872798)^{1, 2} Hayman A.R.... Warburton M.J. (1991)
Purification and N-terminal sequence of two tartrate-resistant acid phosphatases type-5 from the hairy cell leukemia spleen. (PubMed id 2610679)^{1, 2} Stepan J.J.... Baylink D.J. (1989)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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

Intellectual Property for ACP5 gene
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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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acid phosphatase 5, tartrate resistant

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ACP5 Gene

acid phosphatase 5, tartrate resistant

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