Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''RP1''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

This gene encodes a member of the

doublecortin Neuronal migration protein doublecortin, also known as doublin or lissencephalin-X is a protein that in humans is encoded by the ''DCX'' gene. Function Doublecortin (DCX) is a microtubule-associated protein expressed by neuronal precursor cell ...

family. The protein encoded by this gene contains two doublecortin domains that bind to

microtubules Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nm and have an inner diameter between 11 an ...

and regulate

microtubule polymerization Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nm and have an inner diameter between 11 an ...

. The encoded protein is a protein associated with the

photoreceptor cell A photoreceptor cell is a specialized type of neuroepithelial cell found in the retina that is capable of visual phototransduction. The great biological importance of photoreceptors is that they convert light (visible electromagnetic radiation ...

microtubules in the

retina The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional ...

and is necessary for the correct stacking of outer segment disc. This protein and another retinal-specific protein, RP1L1, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptor cells.

History

Initially named "ORP1" for its response to ''in vivo''

l oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant

retinitis pigmentosa Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visua ...

and was renamed RP1 for 'retinitis pigmentosa 1'.

Clinical significance

Mutations in this gene cause autosomal dominant or autosomal recessive

. Transcript variants produced by alternative promoters and alternative splicing have been discovered that overlap with the current reference sequence and have multiple exons upstream and downstream of the current reference sequence. However, as of 2010, it is currently impossible to determine the biological effectiveness and full-length nature of certain variants.

References

External links

GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview
{{gene-8-stub

Function

History

Clinical significance

See also

References

Further reading

External links