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FLASH GENE

Symbol

ACP5

contributors: mct/pgu - updated : 17-09-2010

HGNC name	acid phosphatase 5, tartrate resistant
HGNC id	124

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPENCD1 spondyloenchondrodysplasia with immune dysregulation 1
Location	19p13.2      Physical location : 11.685.476 - 11.689.801
Synonym name	tartrate-resistant purple acid phosphatase
	tartrate-resistant acid ATPase
	type 5 acid phosphatase
Synonym symbol(s)	TRAP, TRACP, MGC117378, TrATPase
EC.number	3.1.3.2

DNA

TYPE	functioning gene
STRUCTURE	4.33 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	in the -839/-639promoter region a PARP1 binding site, and transcriptional activity of ACP5, in pre-osteoclastic cells, is negatively regulated by the binding of PARP1 protein to a potential consensus sequence located in its promoter region
	promoter contains a STAT6-binding motif, and STAT6 bound to the endogenous ACP5 promoter after IL4 treatment

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	Variants 1, 2, 3, and 4 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001111034 6 - 1640 NP_001104504 34.3 325 - PMID: 8618440, PMID: 18410226 also called TRACP5b its activity is a marker for osteoclast number and perhaps local or systemic bone destruction NM_001111035 7 - 1663 NP_001104505 34.3 325 - PMID: 8618440, PMID: 18410226 also called TRACP5a increased in about one third of rheumatoid arthritis (RA) sera may be a measure of systemic inflammatory macrophage burden and disease severity NM_001111036 6 - 1590 NP_001104506 34.3 325 - PMID: 8618440 NM_001611 5 - 1506 NP_001602 34.3 325 - PMID: 8618440

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Lymphoid/Immune spleen       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune dendritic cell Lymphoid/Immune macrophage Skeleton osteoclast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	putative signal sequence of 19 AA
	two potential glycosylation sites

conjugated

GlycoP

mono polymer

monomer , dimer

HOMOLOGY

interspecies

homolog to murine Acp5

Homologene

FAMILY	metallophosphoesterase superfamily
	purple acid phosphatase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzing the conversion of orthophosphoric monoester to alcohol and orthophosphate
	has an important role in the presentation of antigens to T cells
	important for polarizing responses in na
	ve T cells to antigen-presented dendritic cells
	essential for normal skeletal development, and has an important role in the metabolism of collagen
	acid phosphatase, having a dual role and involved in the regulation of the biological activity of the bone matrix phosphoproteins osteopontin and bone sialoprotein and the intracellular collagen degradation
	role in regulating osteoclast migration on post-translationally modified SPP1

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

disulfide-linked two-subunit structure

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	two iron Fe2+

protein	interacting with OPN and BSP
	link between ACP5 activity and interferon metabolism, emphasizing the importance of the type I interferon response in autoimmunity
	NFATC1 is a key transcription factor, playing a role in regulating expression of osteoclast-specific downstream target genes such as ACP5 and OSCAR

cell & other

REGULATION

activated by

STAT6 (in the absence of TNFSF11 and osteoclast differentiation, STAT6 binds the ACP5 promoter after IL4 treatment and directly enhances its expression)

repressed by

IL4 (down-regulates expression of ACP5 in mature osteoclasts)

ASSOCIATED DISORDERS

corresponding disease(s)

SPENCD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in hepatocellular carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

TRACP(-/-) mice have impaired maturation and defective Th1 responses