gene/pseudogene

Cytosolic beta-glucosidase, also known as Cytosolic beta-glucosidase-like protein 1, GBA3, CBG and CBGL1 is a cytoplasm protein which belongs to theglycosyl hydrolase 1 family and Klotho subfamily. GBA3 / CBGL1 is a glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. GBA3 / CBGL1 is present in small intestine (at protein level). GBA3 / CBGL1 is expressed in liver, small intestine, colon, spleen and kidney. GBA3 / CBGL1 is down-regulated in renal cell carcinomas and hepatocellular carcinomas. GBA3 / CBGL1 is able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. GBA3 / CBGL1 possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide.

GSTT2B Protein, Human, Recombinant (His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 29 kDa and the accession number is P0CG29.

Zinc Finger Protein 75A (ZNF75A) is a member of krueppel C2H2-type zinc-finger protein family. The human ZNF75 gene is located on Xq26, which has only limited homology (less than 65%) to other ZF genes in the databases. One of these, ZNF75B is a pseudogene mapped to chromosome 12q13. The other two, ZNF75A and ZNF75C, maintain an ORF in the sequenced region, and at least the latter is expressed in the U937 cell line. ZNF75A contains five C2H2-type zinc fingers and one KRAB domain. ZNF75A is a nucleus protein, may involves in transcriptional regulation.

KIR3DL3 (Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Long Cytoplasmic Tail 3) is a Protein Coding gene. KIR3DL3 is a framework gene of the Leukocyte Receptor Complex, present in all individuals and haplotypes analyzed to date.KIR3DL3 alleles were characterized by two families and one unrelated individual. The most centromeric gene in the human KIR cluster is KIR3DL3. The encoded protein belongs to the immunoglobulin superfamily. KIR3DL3 has only one immunoreceptor tyrosine-based inhibitory motif and lacks the exon encoding the stem between the Immunoglobulin domains and the transmembrane region. KIR3DL3 gene is not a pseudogene but encodes a protein that is not expressed in healthy individuals. Protein expression might be induced under certain developmental or pathological situations.

LPAL2 (Lipoprotein(A) Like 2, Pseudogene) is a Pseudogene. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Lipoprotein(a) [Lp(a)] level is an established risk factor for coronary artery disease and has been implicated in carotid artery disease (CAAD). Mutations in the solute carrier family 22 member 3 (SLC22A3), lipoprotein (a)-like 2 (LPAL2), and the lipoprotein (a) (LPA) gene cluster, which encodes apolipoprotein (a) [apo (a)] of the lipoprotein (a) [Lp (a)] lipoprotein particle, have been suggested to contribute to the risk of coronary artery disease (CAD). Recent genome-wide association studies have identified that genetic variants in the SLC22A3-LPAL2-LPA gene cluster influence plasma lipoprotein(a) [Lp(a)] concentration.

NRAS was discovered by researchers at the Institute of Cancer Research, funded by the Cancer Research Campaign (now Cancer Research UK). NRAS gene is a member of the Ras gene family. It is mapped on chromosome 1, and it is activated in HL6, a promyelocytic leukemia line. The mammalian ras gene family consists of the Harvey and Kirsten ras genes (HRAS and KRAS), an inactive pseudogene of each (c-Hras2 and c-Kras1), and the N-ras gene. They differ significantly only in the C-terminal 4 amino acids. These ras genes have GTP/GDP binding and GTPase activity, and their normal function may be as G-like regulatory proteins involved in the normal control of cell growth. The NRAS gene specifies two main transcripts of 2Kb and 4.3Kb. The difference between the two transcripts is a simple extension through the termination site of the 2Kb transcript. The NRAS gene consists of seven exons (-I, I, II, III, IV, V, VI).Cancer ImmunotherapyImmune CheckpointImmunotherapyTargeted Therapy

C-C Motif Chemokine 3-Like 1 (CCL3L1) is a secreted protein that belongs to the intercrine beta (chemokine CC) family. CCL3L1 is a ligand for CCR1, CCR3 and CCR5. CCL3L1 binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The processed form LD78-beta (3-70) shows a 20-fold to 30-fold higher chemotactic activity and is a very potent inhibitor of HIV-1-infection. The copy number of this gene varies among individuals: most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene (CCL3L3 and CCL3L1) and a partial pseudogene. This record represents the more centromeric full-length gene.

CCL16, a chemokine poorly characterized at the functional level. Human CCL16 is a member of the CC family, and its gene maps to human chromosome 17q. In the mouse, only a pseudogene has been identified to date. CCL16 is a functional ligand for CCR1, CCR2, CCR5, and CCR8. Recombinant CCL16 demonstrated chemotactic activity on human monocytes and lymphocytes. Based on the ability of human chemokines to exert activity on and bind to murine receptors, the TSA mouse adenocarcinoma cell line was transfected with human CCL16 cDNA and, in comparison with other cytokines, was shown to be the faster inducer of systemic immune response due to massive, prompt infiltration of leukocytes.Cancer ImmunotherapyImmune CheckpointImmunotherapyTargeted Therapy

PLAC9 belongs to the PLAC9 family. PLAC9 gene is a placental-enriched gene. There are other two placental-enriched genes: Plac1 and Plac8. Plac1 is strongly expressed in all trophoblast-derived cells in the placenta and has been described in 2. Plac8 expression is restricted to the spongiotrophoblast layer during development, whereas PLAC9 is weakly expressed though highly enriched in placenta. For both, cDNAs with complete open reading frames were recovered and exon-intron structures inferred from comparisons of mouse cDNA and genomic sequence. The predicted proteins both contain putative signal peptides, with a coiled-coil segment of mPLAC9 as the only other detected motif. Genomic sequence comparisons reveal that in addition to an apparent pseudogene on chromosome 1, Plac8 is expressed at mouse cytoband 5e3.

ART3 is an arginine-specific ADP-ribosyltransferase which belongs to the Arg-specific ADP-ribosyltransferase family. ART3 catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. It is expressed specifically in testis. ART3 pseudogene is located on chromosome 11. ART3 was identified as a susceptibility gene for non-obstructive azoospermia (NOA). It is a novel therapeutic target in the treatment of NOA.