FASTKD5

Last updated
FASTKD5
Identifiers
Aliases FASTKD5 , dJ1187M17.5, FAST kinase domains 5
External IDs MGI: 2139469 HomoloGene: 36400 GeneCards: FASTKD5
Gene location (Human)
Ideogram human chromosome 20.svg
Chr. Chromosome 20 (human) [1]
Human chromosome 20 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 20p13Start3,146,519 bp [1]
End3,159,897 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021826

NM_001146084
NM_198176

RefSeq (protein)

NP_068598

NP_001139556
NP_937819

Location (UCSC) Chr 20: 3.15 – 3.16 Mb Chr 2: 130.61 – 130.63 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

FAST kinase domain-containing protein 5 (FASTKD5) is a protein that in humans is encoded by the FASTKD5 gene on chromosome 20. [5] [6] This protein is part of the FASTKD family, which is known for regulating the energy balance of mitochondria under stress. [7] [8] FASTKD5 is also required for RNA granules to process precursor mRNAs not flanked by tRNAs. [9]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Contents

Structure

FASTKD5 shares structural characteristics of the FASTKD family, including an amino terminal mitochondrial targeting domain and three C-terminal domains: two FAST kinase-like domains (FAST_1 and FAST_2) and a RNA-binding domain (RAP). [7] [8] The mitochondrial targeting domain directs FASTKD5 to be imported into the mitochondria. Though the functions of the C-terminal domains are unknown, RAP possibly binds RNA during trans-splicing. [7] This protein forms a 103 kDa protein complex with unidentified proteins. [9]

Function

As a member of the FASTKD family, FASTKD5 localizes to the mitochondria to modulate their energy balance, especially under conditions of stress. Though ubiquitously expressed in all tissues, FASTKD5 appears more abundantly in skeletal muscle, heart muscle, and other tissues enriched in mitochondria. [7] FASTKD5 also localizes to RNA granules, membraneless bodies containing mRNAs and associated RNA-binding proteins, where it facilitates posttranscriptional RNA processing. This protein is required for the maturation of precursor mRNAs that are not flanked by tRNAs, and thus cannot be processed by the canonical mRNA maturation pathway. [9]

Clinical significance

Though the link to FASTKD5 remains uncharacterized, the accumulation of abnormal RNA granules can lead to some neurodegenerative diseases. [9]

Interactions

FASTKD5 has been shown to interact with:

Related Research Articles

Thermogenin protein-coding gene in the species Homo sapiens

Thermogenin is an uncoupling protein found in the mitochondria of brown adipose tissue (BAT). It is used to generate heat by non-shivering thermogenesis, and makes a quantitatively important contribution to countering heat loss in babies which would otherwise occur due to their high surface area-volume ratio.

Frataxin Protein-coding gene in the species Homo sapiens

Frataxin is a protein that in humans is encoded by the FXN gene.

HK1 protein-coding gene in the species Homo sapiens

Hexokinase-1 (HK1) is an enzyme that in humans is encoded by the HK1 gene on chromosome 10. Hexokinases phosphorylate glucose to produce glucose-6-phosphate (G6P), the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]

DNAJA3 protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily A member 3, mitochondrial, also known as Tumorous imaginal disc 1 (TID1), is a protein that in humans is encoded by the DNAJA3 gene on chromosome 16. This protein belongs to the DNAJ/Hsp40 protein family, which is known for binding and activating Hsp70 chaperone proteins to perform protein folding, degradation, and complex assembly. As a mitochondrial protein, it is involved in maintaining membrane potential and mitochondrial DNA (mtDNA) integrity, as well as cellular processes such as cell movement, growth, and death. Furthermore, it is associated with a broad range of diseases, including neurodegenerative diseases, inflammatory diseases, and cancers.

Annexin A7 protein-coding gene in the species Homo sapiens

Annexin A7 is a protein that in humans is encoded by the ANXA7 gene.

DNAJC3 protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily C member 3 is a protein that in humans is encoded by the DNAJC3 gene.

SLC25A3 protein-coding gene in the species Homo sapiens

Phosphate carrier protein, mitochondrial is a protein that in humans is encoded by the SLC25A3 gene. The encoded protein is a transmembrane protein located in the mitochondrial inner membrane and catalyzes the transport of phosphate ions across it for the purpose of oxidative phosphorylation. There are two significant isoforms of this gene expressed in human cells, which differ slightly in structure and function. Mutations in this gene can cause mitochondrial phosphate carrier deficiency (MPCD), a fatal disorder of oxidative phosphorylation symptomized by lactic acidosis, neonatal hypotonia, hypertrophic cardiomyopathy, and death within the first year of life.

TBRG4 protein-coding gene in the species Homo sapiens

Transforming growth factor beta regulator 4 (TBRG4), also known as cell cycle progression restoration protein 2 (CPR2) and FAST kinase domain-containing protein 4 (FASTKD4), is a protein that in humans is encoded by the TBRG4 gene on chromosome 7. This protein is part of the FASTKD family, which is known for regulating the energy balance of mitochondria under stress and cell cycle progression. TBRG4 is involved in cell proliferation in hematopoiesis and multiple myeloma.

PMPCB protein-coding gene in the species Homo sapiens

Mitochondrial-processing peptidase subunit beta is an enzyme that in humans is encoded by the PMPCB gene. This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex.

AIFM2 protein-coding gene in the species Homo sapiens

Apoptosis-inducing factor 2 (AIFM2), also known as apoptosis-inducing factor-homologous mitochondrion-associated inducer of death (AMID), is a protein that in humans is encoded by the AIFM2 gene, also known as p53-responsive gene 3 (PRG3), on chromosome 10.

RBFOX1 protein-coding gene in the species Homo sapiens

Fox-1 homolog A, also known as ataxin 2-binding protein 1 (A2BP1) or hexaribonucleotide-binding protein 1 (HRNBP1) or RNA binding protein, fox-1 homolog (Rbfox1), is a protein that in humans is encoded by the RBFOX1 gene.

GTPBP3 protein-coding gene in the species Homo sapiens

tRNA modification GTPase GTPBP3, mitochondrial is an enzyme that in human is encoded by the GTPBP3 gene on chromosome 19.

HK2 protein-coding gene in the species Homo sapiens

Hexokinase 2 also known as HK2 is an enzyme which in humans is encoded by the HK2 gene on chromosome 2. Hexokinases phosphorylate glucose to produce glucose-6-phosphate (G6P), the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]

Mitochondrial biogenesis is the process by which cells increase mitochondrial mass. It was first described by John Holloszy in the 1960s, when it was discovered that physical endurance training induced higher mitochondrial content levels, leading to greater glucose uptake by muscles. Mitochondrial biogenesis is activated by numerous different signals during times of cellular stress or in response to environmental stimuli, such as aerobic exercise.

FASTKD3 protein-coding gene in the species Homo sapiens

FAST kinase domain-containing protein 3 (FASTKD3) is a protein that in humans is encoded by the FASTKD3 gene on chromosome 5. This protein is part of the Fas-activated serine/threonine kinase domain (FASTKD) containing protein family, which is known for regulating the energy balance of mitochondria under stress.

SLC25A5 protein-coding gene in the species Homo sapiens

Solute carrier family 25, member 5 is a protein that in humans is encoded by the SLC25A5 gene on the X chromosome.

FASTKD1 protein-coding gene in the species Homo sapiens

FAST kinase domain-containing protein 1 is a protein that in humans is encoded by the FASTKD1 gene on chromosome 2. This protein is part of the FASTKD family, which is known for regulating the energy balance of mitochondria under stress. FASTKD1 is also an RNA-binding protein and has been associated with endometrial cancer.

FASTKD2 protein-coding gene in the species Homo sapiens

FAST kinase domain-containing protein 2 (FASTKD2) is a protein that in humans is encoded by the FASTKD2 gene on chromosome 2. This protein is part of the FASTKD family, which is known for regulating the energy balance of mitochondria under stress. FASTKD2 has been implicated in mitochondrial encephalomyopathy, breast cancer, and prostate cancer.

RMDN3 protein-coding gene in the species Homo sapiens

Regulator of microtubule dynamics protein 3 (RMDN3), more commonly known as Protein tyrosine phosphatase interacting protein 51 (PTPIP51), is a protein that in humans is encoded by the RMDN3 gene on chromosome 15. This protein contributes to multiple biological functions, including cellular differentiation, proliferation, motility, cytoskeleton formation, and apoptosis, and has been associated with numerous cancers.

NT5M protein-coding gene in the species Homo sapiens

5',3'-nucleotidase, mitochondrial, also known as 5'(3')-deoxyribonucleotidase, mitochondrial (mdN) or deoxy-5'-nucleotidase 2 (dNT-2), is an enzyme that in humans is encoded by the NT5M gene. This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000215251 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079043 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. UniProt: Q7L8L6
  6. "Entrez Gene: FAST kinase domains 5".
  7. 1 2 3 4 Simarro M, Gimenez-Cassina A, Kedersha N, Lazaro JB, Adelmant GO, Marto JA, Rhee K, Tisdale S, Danial N, Benarafa C, Orduña A, Anderson P (Oct 2010). "Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration". Biochemical and Biophysical Research Communications. 401 (3): 440–6. doi:10.1016/j.bbrc.2010.09.075. PMC   2963690 Lock-green.svg. PMID   20869947.
  8. 1 2 Yeung KT, Das S, Zhang J, Lomniczi A, Ojeda SR, Xu CF, Neubert TA, Samuels HH (Jun 2011). "A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2". Molecular and Cellular Biology. 31 (11): 2287–98. doi:10.1128/MCB.01381-10. PMC   3133243 Lock-green.svg. PMID   21444724.
  9. 1 2 3 4 5 6 7 Antonicka H, Shoubridge EA (Feb 2015). "Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis". Cell Reports. 10: 920–932. doi:10.1016/j.celrep.2015.01.030. PMID   25683715.