InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RP2

Summary

InnateDB Protein

IDBP-59355.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RP2

Protein Name

retinitis pigmentosa 2 (X-linked recessive)

Synonyms

DELXp11.3; NM23-H10; NME10; TBCCD2; XRP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000218340

InnateDB Gene

IDBG-59353 (RP2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:11847227, ECO:0000269PubMed:18376416, ECO:0000269PubMed:20106869, ECO:0000269PubMed:22085962}.

Subcellular Localization

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.

Disease Associations

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. {ECO:0000269PubMed:10090907, ECO:0000269PubMed:10520237, ECO:0000269PubMed:10634633, ECO:0000269PubMed:10937588, ECO:0000269PubMed:11462235, ECO:0000269PubMed:11992260, ECO:0000269PubMed:12657579, ECO:0000269PubMed:14564670, ECO:0000269PubMed:22334370, ECO:0000269PubMed:9697692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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). {ECO:0000269PubMed:10942419, ECO:0000269PubMed:12417528, ECO:0000269PubMed:18376416}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0004550	nucleoside diphosphate kinase activity
GO:0005096	GTPase activator activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005525	GTP binding
GO:0051082	unfolded protein binding

Biological Process

GO:0000902	cell morphogenesis
GO:0006165	nucleoside diphosphate phosphorylation
GO:0006183	GTP biosynthetic process
GO:0006228	UTP biosynthetic process
GO:0006241	CTP biosynthetic process
GO:0006457	protein folding
GO:0006892	post-Golgi vesicle-mediated transport
GO:0007010	cytoskeleton organization
GO:0007601	visual perception
GO:0015031	protein transport
GO:0043547	positive regulation of GTPase activity

Cellular Component

GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005814	centriole
GO:0005886	plasma membrane
GO:0031410	cytoplasmic vesicle
GO:0036064	ciliary basal body
GO:0070062	extracellular vesicular exosome
GO:1990075	periciliary membrane compartment

Protein Structure and Domains

PDB ID

InterPro

IPR001564 Nucleoside diphosphate kinase
IPR006599 CARP motif
IPR012945 Tubulin binding cofactor C-like domain
IPR013912 Adenylate cyclase-associated CAP, C-terminal
IPR017332 Protein XRP2

PFAM

PF00334
PF07986
PF08603

PRINTS

PR01243

PIRSF

PIRSF037947

SMART

SM00562
SM00673

TIGRFAMs

Post-translational Modifications

Modification

Cross-References