ACP5 (acid phosphatase 5, tartrate resistant)

2003-11-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
HPAP,TRACP5a,TRACP5b,TRAP,TrATPase
FUSION GENES

Other Information

Locus ID:

NCBI: 54
MIM: 171640
HGNC: 124
Ensembl: ENSG00000102575

Variants:

dbSNP: 54
ClinVar: 54
TCGA: ENSG00000102575
COSMIC: ACP5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102575ENST00000218758P13686
ENSG00000102575ENST00000218758A0A024R7F8
ENSG00000102575ENST00000412435P13686
ENSG00000102575ENST00000412435A0A024R7F8
ENSG00000102575ENST00000589792K7ESF2
ENSG00000102575ENST00000590420K7ES19
ENSG00000102575ENST00000590832K7EJD9
ENSG00000102575ENST00000591319K7EIP0
ENSG00000102575ENST00000592828P13686
ENSG00000102575ENST00000648477P13686
ENSG00000102575ENST00000648477A0A024R7F8
ENSG00000102575ENST00000649386A0A3B3IS75

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Riboflavin metabolismKEGGko00740
Riboflavin metabolismKEGGhsa00740
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B2 (riboflavin) metabolismREACTOMER-HSA-196843

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212177552011Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.62
212177522011Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.44
162803282006MCP-1-induced human osteoclast-like cells are tartrate-resistant acid phosphatase, NFATc1, and calcitonin receptor-positive but require receptor activator of NFkappaB ligand for bone resorption.43
182855462008A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.41
120731562002Serum tartrate-resistant acid phosphatase 5b, but not 5a, correlates with other markers of bone turnover and bone mineral density.20
184214932008Serum levels of TRAP5b, a new bone resorption marker unaffected by renal dysfunction, as a useful marker of cortical bone loss in hemodialysis patients.20
179977092008A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.15
182214032008Utility of serum tartrate-resistant acid phosphatase (TRACP5b) as a bone resorption marker in patients with chronic kidney disease: independence from renal dysfunction.15
236041212014ACP5, a direct transcriptional target of FoxM1, promotes tumor metastasis and indicates poor prognosis in hepatocellular carcinoma.15
155425432005Properties and expression of human tartrate-resistant acid phosphatase isoform 5a by monocyte-derived cells.14

Citation

Dessen P

ACP5 (acid phosphatase 5, tartrate resistant)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/555/acp5