Adrenocortical dysplasia protein homolog 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 ''ACD''
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 gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I.
TPP1 is a component of the telomere-specific
shelterin
Shelterin (also called telosome) is a protein complex known to protect telomeres in many eukaryotes from DNA repair mechanisms, as well as to regulate telomerase activity. In mammals and other vertebrates, telomeric DNA consists of repeating doubl ...
complex, which facilitates the replication of the double-stranded telomeric DNA tracts and protects the telomeric end from unregulated DNA repair activities. TPP1 mainly functions as a regulator of telomerase recruitment, activation, and regulation.
Although TPP1 was originally described as a bridging factor between
TRF1
The TRF1 is a 155mm French towed howitzer produced by Nexter (ex Giat Industries) and used by the French Army.
The TRF1 was showcased in 1979 at the Eurosatory arms trade show, as a replacement for Armée de Terre's Obusier_de_155_mm_Mod%C3%A8le_ ...
and
TRF2, which participate in a pathway with
POT1
Protection of telomeres protein 1 is a protein that in humans is encoded by the ''POT1'' gene.
Function
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein func ...
as a negative regulator of telomerase-dependent telomere length control,
more recent studies suggest that TPP1 could directly promotes telomerase activity at the telomere.
A part of the TPP1 oligonucleotide/oligosaccharide-binding (OB) fold named
TEL patch that interacts with the catalytic subunit of telomerase,
hTERT
Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.
T ...
, has been proven essential for telomerase activation.
TPP1 has also been demonstrated as the only pathway required for recruitment of telomerase to chromosome ends, and it also defines telomere length homeostasis in hESCs.
Interactions
ACD (gene) 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
POT1
Protection of telomeres protein 1 is a protein that in humans is encoded by the ''POT1'' gene.
Function
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein func ...
and
TINF2
TERF1-interacting nuclear factor 2 is a protein that in humans is encoded by the ''TINF2'' gene. TINF2 is a component of the shelterin protein complex found at the end of telomeres.
Interactions
TINF2 has been shown to interact with ACD, POT1 ...
.
[
* POT1 ]TIN2
Tin is a chemical element with the symbol Sn (from la, stannum) and atomic number 50. Tin is a silvery-coloured metal.
Tin is soft enough to be cut with little force and a bar of tin can be bent by hand with little effort. When bent, t ...
Telomerase
Telomerase, also called terminal transferase, is a ribonucleoprotein that adds a species-dependent telomere repeat sequence to the 3' end of telomeres. A telomere is a region of repetitive sequences at each end of the chromosomes of most euka ...
References
External links
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PDBe-KB
provides an overview of all the structure information available in the PDB for Human Adrenocortical dysplasia protein homolog
Further reading
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{{PDB Gallery, geneid=65057
Human proteins
Telomere-binding proteins