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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''RP1''
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 b ...
.
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 cells an ...
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 a ...
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 microtubules in the
retina
The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...
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''
retina
The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...
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 genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...
and was renamed RP1 for 'retinitis pigmentosa 1'.
Clinical significance
Mutations in this gene cause autosomal dominant or autosomal recessive
retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...
.
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.
See also
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Disc shedding
Disc shedding is the process by which photoreceptor cells in the retina are renewed. The disc formations in the outer segment of photoreceptors, which contain the photosensitive opsins, are completely renewed every ten days.
Photoreceptors
The re ...
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview
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