Harmonizome 3.0

coagulation factor XII (Hageman factor)

This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]

tumor protein p53

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]

TP53-target gene 3 protein

PERP, TP53 apoptosis effector pseudogene

TP53-target gene 3 protein

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

reprimo, TP53 dependent G2 arrest mediator candidate

Predicted to be involved in regulation of mitotic cell cycle. Predicted to act upstream of or within regulation of cell cycle. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TP53 induced glycolysis regulatory phosphatase

This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]

TP53 target 3B pseudogene

TP53-target gene 3 protein

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ribonucleotide reductase M2 B (TP53 inducible)

This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

TP53 regulated inhibitor of apoptosis 1 pseudogene 1

TP53 target 5

Predicted to be involved in intracellular signal transduction and negative regulation of cell growth. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

TP53 target 3

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TP53 target 1 (non-protein coding)

TP53-target gene 3 protein

WD repeat containing, antisense to TP53

This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]

PERP, TP53 apoptosis effector

Involved in activation of cysteine-type endopeptidase activity and positive regulation of neutrophil chemotaxis. Predicted to be located in desmosome and plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Mar 2025]

TP53 target 3D

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TP53 target 3B

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TP53 target 3C

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

Breast cancer-related regulator of TP53

TP53 regulating kinase

Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Mar 2025]

TP53 regulated inhibitor of apoptosis 1

Enables p53 binding activity. Contributes to phosphatidic acid transfer activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic signaling pathway; and positive regulation of phospholipid transport. Located in mitochondrial intermembrane space and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

PERP, TP53 apoptosis effector pseudogene

PERP, TP53 apoptosis effector pseudogene

TP53 target 3 family member E

Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]