| Tbio | Lysosomal acid phosphatase |
This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Comments
Property Summary
| NCBI Gene PubMed Count | 31 |
| Grant Count | 3 |
| Funding | $312,398.3 |
| PubMed Score | 234.27 |
| PubTator Score | 37.95 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | -1.300 | 0.000 |
| lung cancer | 1.300 | 0.015 |
| non primary Sjogren syndrome sicca | 1.100 | 0.034 |
| ovarian cancer | 1.300 | 0.000 |
| PMID | Text |
|---|---|
| 19064571 | Observational study of gene-disease association. (HuGE Navigator) |
| 18976975 | Knockdown of acid phosphatase 2, lysosomal (ACP2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells |
| 17357082 | Genome-wide association study of gene-disease association. (HuGE Navigator) |
| 15503243 | An enzymatically inactive allele of mouse Acp2 causes cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. |
| 9228031 | LAP-deficient mice exhibit multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. |
MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTK 1 - 70 EGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIP 71 - 140 VHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTL 141 - 210 FCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKL 211 - 280 LVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCP 281 - 350 LQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGE 351 - 420 DHA 421 - 423 //
| PMID | Year | Title |
|---|---|---|
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 23533145 | 2013 | In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. |
| 23376485 | 2013 | Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. |
| 19946888 | 2010 | Defining the membrane proteome of NK cells. |
| 19159218 | 2009 | Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. |
| 19064571 | 2008 | Polymorphisms in mitochondrial genes and prostate cancer risk. |
| 19056867 | 2009 | Large-scale proteomics and phosphoproteomics of urinary exosomes. |
| 17357082 | 2007 | Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. |
| 16554811 | 2006 | Human chromosome 11 DNA sequence and analysis including novel gene identification. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| More... |
