Programmed cell death protein 10 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

that in humans is encoded by the ''PDCD10''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

Function

This

encodes a protein, originally identified in a premyeloid cell line, with similarity to proteins that participate in apoptosis. Three alternative transcripts encoding the same protein, differing only in their 5' UTRs, have been identified for this gene.

Gene

Loss of function mutations in ''PDCD10'' result in the onset of Cerebral Cavernous Malformations (CCM) illness. Therefore, this gene is also called ''CCM3''. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

Interactions

CCM3 encodes a protein called Programmed Cell Death 10 (PDCD10). The function of this protein has only recently begun to be understood. PDCD10 has roles in vascular development and VEGF signaling1, apoptosis and functions as part of a larger signaling complex that includes germinal center kinase III,. Specifically, PDCD10 has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with

RP6-213H19.1 Serine/threonine protein kinase MST4, also known as mammalian STE20-like protein kinase 4 (MST-4), is a protein that in humans is encoded by the ''MST4'' gene. Function The product of this gene is a member of the GCK group III family of kinas ...

STK25 Serine/threonine-protein kinase 25 is an enzyme that in humans is encoded by the ''STK25'' gene. Interactions STK25 has been shown to interact with STRN, PDCD10 and MOBKL3 Mps one binder kinase activator-like 3 is an enzyme that in humans is enc ...

STRN Striatin is a protein that in humans is encoded by the ''STRN'' gene. Interactions STRN has been shown to interact with: * CTTNBP2NL, * CTTNBP2, * FAM40A, * MOBKL3, * PDCD10, * PPP2CA, * PPP2R1A, * RP6-213H19.1, * STK24, * STK25, * ...

STRN3 Striatin-3 is a protein that in humans is encoded by the ''STRN3'' gene. Interactions STRN3 has been shown to interact with: * CTTNBP2NL, * CTTNBP2, * FAM40A, * MOBKL3, * PDCD10, * PPP2CA, * PPP2R1A, * RP6-213H19.1, * STK24, and * S ...

MOBKL3 Mps one binder kinase activator-like 3 is an enzyme that in humans is encoded by the ''MOBKL3'' gene. Function This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expres ...

CTTNBP2NL CTTNBP2 N-terminal-like protein is a protein that in humans is encoded by the ''CTTNBP2NL'' gene. It is a substrate for phosphorylation. Interactions CTTNBP2NL has been shown to interact with: * FAM40A, and * MOBKL3, * PDCD10, * PPP2CA, * ...

STK24 Serine/threonine-protein kinase 24 is an enzyme that in humans is encoded by the ''STK24'' gene located in the chromosome 13, band q32.2. It is also known as Mammalian STE20-like protein kinase 3 (MST-3). The protein is 443 amino acids long and its ...

and

FAM40A Protein FAM40A is a protein that is located on chromosome 1 in humans and is encoded by the ''FAM40A'' gene. Characteristics and secondary structure FAM40A has an isoelectric point of 5.92 and a molecular weight of 95,575 daltons. It is predict ...

Model organisms

Model organism A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workin ...

s have been used in the study of PDCD10 function. A conditional

knockout mouse A knockout mouse, or knock-out mouse, is a genetically modified mouse (''Mus musculus'') in which researchers have inactivated, or "knocked out", an existing gene by replacing it or disrupting it with an artificial piece of DNA. They are importan ...

line, called ''Pdcd10^{tm1a(KOMP)Wtsi}'' was generated as part of the

International Knockout Mouse Consortium The International Knockout Mouse Consortium (IKMC) is a scientific endeavour to produce a collection of mouse embryonic stem cell lines that together lack every gene in the genome, and then to distribute the cells to scientific researchers to crea ...

program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized

phenotypic screen In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...

to determine the effects of deletion. Twenty five tests were carried out on

mutant In biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. It ...

mice and two significant abnormalities were observed. No

homozygous Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mo ...

embryos were identified during gestation, and therefore none survived until

weaning Weaning is the process of gradually introducing an infant human or another mammal to what will be its adult diet while withdrawing the supply of its mother's milk. The process takes place only in mammals, as only mammals produce milk. The infan ...

. The remaining tests were carried out on

heterozygous Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mo ...

mutant adult mice; no additional significant abnormalities were observed in these animals.

References

External links