RBCC Red Blood Cell Collection

XRP2_HUMAN

Source: hRBCD ; ID: IPI00026627
PM19886704
PM23856902
BSc_CH
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: RP2
Protein names and data: XRP2_HUMAN , Protein XRP2 Lenght: 350 a.a.
Mass: 39641 Da
fasta formatted sequence
Function: Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). 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.
Disease: ( OMIM: 300757 312600 ) Retinitis pigmentosa 2 (RP2) [MIM:312600]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Lipid-anchor; Cytoplasmic side. Cell projection, cilium. Note=Detected predominantly to the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus.
Tissue specificity: 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).

Genetic variants

6 - 6 Missing (in RP2; loss of membrane association; enhances interaction with ARL3). VAR_008497
67 - 67 C -> Y (in RP2). VAR_018069
86 - 86 C -> Y (in RP2). VAR_018070
95 - 95 P -> L (in RP2; uncertain pathological significance). VAR_018071
108 - 108 C -> G (in RP2). VAR_008498
108 - 108 C -> Y (in RP2). VAR_068353
118 - 118 R -> C (in RP2). VAR_026058
118 - 118 R -> H (in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location). VAR_008499
118 - 118 R -> L (in RP2; dbSNP:rs28933687). VAR_018072 28933687
137 - 137 Missing (in RP2). VAR_018073
138 - 138 E -> G (in RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3). VAR_018074
144 - 144 K -> R (in dbSNP:rs3126141). VAR_053961 3126141
188 - 188 L -> P (in RP2). VAR_018075
253 - 253 L -> R (in RP2). VAR_008500
282 - 282 R -> W (might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147). VAR_014535 1805147
338 - 338 D -> Y (in dbSNP:rs1805148). VAR_014536 1805148

Database cross-references

UniProt: O75695
Ensembl: ENST00000218340
Ensembl: ENST00000603075
MIM: 300757
MIM: 312600
neXtProt: NX_O75695
Antibodypedia: O75695 (may not find the protein thus also not any antibody)
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