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- Table of Contents
5 Q&As
Facts about Protein XRP2.
Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.
Human | |
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Gene Name: | RP2 |
Uniprot: | O75695 |
Entrez: | 6102 |
Belongs to: |
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TBCC family |
DELXp11.3; KIAA0215; NME10; protein XRP2; retinitis pigmentosa 2 (X-linked recessive); TBCCD2; XRP2
Mass (kDA):
39.641 kDA
Human | |
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Location: | Xp11.3 |
Sequence: | X; NC_000023.11 (46837043..46882358) |
Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer plexiform layer (ONL). Also detected in the bipolar, horizontal and amacrine cells in the inner nuclear layer (INL), extending to the inner plexiform layer (IPL) and though the ganglion cell layer (GCL) and into the nerve fiber layer (NFL) (at protein level).
Cell membrane; Lipid-anchor; Cytoplasmic side. Cell projection, cilium. Detected predominantly at the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus.
PMID: 9697692 by Schwahn U., et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2.
PMID: 10942419 by Chapple J.P., et al. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.