Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54
Gene name	Acid phosphatase 5, tartrate resistant
Gene symbol	ACP5
Synonyms (NCBI Gene)	HPAPTRACP5aTRACP5bTRAPTRAcPTrATPase
Chromosome	19
Chromosome location	19p13.2
Summary	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 Re

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miRTarBase ID	miRNA	Experiments
MIRT763263	hsa-miR-23a	CLIP-seq
MIRT763264	hsa-miR-23b	CLIP-seq
MIRT763265	hsa-miR-23c	CLIP-seq
MIRT763266	hsa-miR-4643	CLIP-seq
MIRT763267	hsa-miR-4716-5p	CLIP-seq
MIRT1920214	hsa-miR-1207-3p	CLIP-seq
MIRT1920215	hsa-miR-140-3p	CLIP-seq
MIRT1920214	hsa-miR-1207-3p	CLIP-seq
MIRT1920215	hsa-miR-140-3p	CLIP-seq
MIRT1920214	hsa-miR-1207-3p	CLIP-seq
MIRT1920215	hsa-miR-140-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
MITF	Activation	11481336;15737031
SPI1	Activation	11481336

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003993	Function	Acid phosphatase activity	IBA
GO:0003993	Function	Acid phosphatase activity	IEA
GO:0003993	Function	Acid phosphatase activity	TAS	8359686
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006809	Process	Nitric oxide biosynthetic process	IEA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	15993892
GO:0008199	Function	Ferric iron binding	IBA
GO:0008199	Function	Ferric iron binding	IDA	15993892
GO:0010936	Process	Negative regulation of macrophage cytokine production	IEA
GO:0016020	Component	Membrane	TAS	2338077
GO:0016787	Function	Hydrolase activity	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IEA
GO:0032695	Process	Negative regulation of interleukin-12 production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032929	Process	Negative regulation of superoxide anion generation	IEA
GO:0034097	Process	Response to cytokine	IEA
GO:0042554	Process	Superoxide anion generation	IEA
GO:0045019	Process	Negative regulation of nitric oxide biosynthetic process	IEA
GO:0045453	Process	Bone resorption	IBA
GO:0045453	Process	Bone resorption	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0060349	Process	Bone morphogenesis	IEA

MIM	HGNC	e!Ensembl
171640	124	ENSG00000102575

P13686

Protein name

Tartrate-resistant acid phosphatase type 5 (TR-AP) (EC 3.1.3.2) (Tartrate-resistant acid ATPase) (TrATPase) (Type 5 acid phosphatase)

Protein 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.

PDB

1WAR , 2BQ8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00149	Metallophos	26 → 244	Calcineurin-like phosphoesterase	Domain

Sequence

MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQI
LGADFILSLGDNFYFTGVQDINDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQ
IAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTLCGNSDDFLSQQPERPRDVKL
ARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH
DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQRKVPNGYLRFHYGTEDSLGGFAYVEISSK
EMTVTYIEASGKSLFKTRLPRRARP

Sequence length

325

Interactions

View interactions

	KEGG		Reactome
	Riboflavin metabolism Metabolic pathways Lysosome Osteoclast differentiation Rheumatoid arthritis		Vitamin B2 (riboflavin) metabolism

302

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACP5-related disorder	Pathogenic; Likely pathogenic	rs1294990891, rs781050795	RCV004756330 RCV003421931
Spondyloenchondrodysplasia with immune dysregulation	Pathogenic; Likely pathogenic	rs1973089024, rs1973142593, rs2145092503, rs2145089035, rs1171155255, rs2145091349, rs749753832, rs1294990891, rs2145087756, rs2145087630, rs965741395, rs2145092472, rs2145093044, rs1318417167, rs756448158 View all (17 more)	RCV001332836 RCV001386586 RCV001388705 RCV001875223 RCV001896863 RCV002037747 RCV001999723 RCV001942203 RCV001951243 RCV002014054 RCV001898909 RCV001902500 RCV001957731 RCV003117885 RCV002572194 RCV002881254 RCV003042216 RCV003044829 RCV000210950 RCV000210955 RCV003527228 RCV003839769 RCV000022705 RCV000022706 RCV000022707 RCV000022708 RCV000022709 RCV002283498 RCV000640594 RCV000694951 RCV000990151 RCV001862699 RCV001226079

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs775396112	RCV005909092
Cholangiocarcinoma	Benign	rs2071485	RCV005923208
Familial cancer of breast	Benign	rs182019242, rs2071485	RCV005914441 RCV005923206
Malignant lymphoma, large B-cell, diffuse	Benign	rs2071485	RCV005923207
Malignant tumor of esophagus	Benign	rs182019242	RCV005914442
See cases	Conflicting classifications of pathogenicity	rs2512719998	RCV002287740
Uterine corpus endometrial carcinoma	Benign	rs182019242	RCV005914443

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autoimmune Diseases	Associate	26346816
Bone Resorption	Associate	21467819, 38139307
Breast Neoplasms	Associate	20416078, 26632898, 28915803, 32521854
Carcinoma Giant Cell	Associate	35697931
Colorectal Neoplasms	Associate	33795653
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia	Associate	26951490, 37382551
Giant Cell Tumor of Bone	Associate	25193435, 36725001
Growth Disorders	Associate	26789720
Heart Failure	Associate	30557359
Immune System Diseases	Associate	37382551
Immunologic Deficiency Syndromes	Associate	26346816, 26789720
Inflammation	Associate	25778334, 26346816, 26632898
Lupus Erythematosus Systemic	Associate	26951490, 27390188
Lymphatic Metastasis	Associate	32521854
Muscle Spasticity	Associate	26346816
Muscular dystrophy congenital with central nervous system involvement	Associate	37382551
Neoplasm Metastasis	Associate	20416078, 28915803, 32521854
Neoplasms	Stimulate	25778334
Neoplasms	Associate	26632898, 28915803, 32521854, 33316803
Nervous System Diseases	Associate	26346816
Osteitis Deformans	Associate	19925894
Osteopetrosis	Associate	17997709
Osteoporosis	Associate	33715446, 39778696
Pyle disease	Associate	26346816
Renal Insufficiency	Associate	26789720
Renal Insufficiency Chronic	Associate	30557359
Schimke immunoosseous dysplasia	Associate	27390188, 32214327
Schizophrenia	Inhibit	36482464
Sexual Dysfunction Physiological	Stimulate	20499337
Spondyloenchondrodysplasia	Associate	26346816, 26789720, 26951490, 27390188, 30558059, 32214327, 37010587, 37382551
Stomach Neoplasms	Associate	33316803

ACP5 (acid phosphatase 5, tartrate resistant)