Inositol monophosphatase 3

Last updated
IMPAD1
Identifiers
Aliases IMPAD1 , GPAPP, IMP 3, IMP-3, IMPA3, inositol monophosphatase domain containing 1
External IDs OMIM: 614010 MGI: 1915720 HomoloGene: 9852 GeneCards: IMPAD1
Gene location (Human)
Ideogram human chromosome 8.svg
Chr. Chromosome 8 (human) [1]
Human chromosome 8 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 8q12.1Start56,957,931 bp [1]
End56,993,867 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017813

NM_177730

RefSeq (protein)

NP_060283

NP_808398

Location (UCSC) Chr 8: 56.96 – 56.99 Mb Chr 4: 4.76 – 4.79 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Inositol monophosphatase 3 also known as inositol monophosphatase domain-containing protein 1 (IMPAD1) is an enzyme that in humans is encoded by the IMPAD1 gene. [5]

Enzyme class of biological molecules with catalytic activity

Enzymes are macromolecular biological catalysts that accelerate chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called enzymology and a new field of pseudoenzyme analysis has recently grown up, recognising that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties.

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.

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). [5]

Inositol monophosphatase

Inositol monophosphatase, commonly referred to as IMPase, is an enzyme of the phosphodiesterase family of enzymes. It is involved in the phosphophatidylinositol [PI] signaling pathway, which affects a wide array of cell functions, including but not limited to, cell growth, apoptosis, secretion, and information processing. Inhibition of inositol monophosphatase may be key in the action of lithium in treating bipolar disorder, specifically manic depression.

Golgi apparatus compound membranous cytoplasmic organelle of eukaryotic cells, made of flattened, ribosome-free vesicles arranged in a somewhat regular stack, often slightly thicker than the endoplasmic reticulum

The Golgi apparatus, also known as the Golgi complex, Golgi body, or simply the Golgi, is an organelle found in most eukaryotic cells. It was identified in 1897 by the Italian scientist Camillo Golgi and named after him in 1898.

Adenosine 3,5-bisphosphate chemical compound

Adenosine 3',5'-bisphosphate is a form of an adenosine nucleotide with two phosphate groups attached to different carbons in the ribose ring. This is distinct from adenosine diphosphate, where the two phosphate groups are attached in a chain to the 5' carbon atom in the ring.

Clinical significance

Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [5]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000104331 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066324 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 "Entrez Gene: Inositol monophosphatase domain containing 1".