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Protein

Protein XRP2

Gene

RP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.4 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi98 – 992GTP
Nucleotide bindingi115 – 1184GTP

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW
  • unfolded protein binding Source: ProtInc

GO - Biological processi

  • cell morphogenesis Source: InterPro
  • cytoskeleton organization Source: InterPro
  • post-Golgi vesicle-mediated transport Source: MGI
  • protein folding Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5624138. Trafficking of myristoylated proteins to the cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein XRP2
Gene namesi
Name:RP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:10274. RP2.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: Ensembl
  • ciliary basal body Source: MGI
  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle Source: MGI
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: Ensembl
  • periciliary membrane compartment Source: Ensembl
  • plasma membrane Source: UniProtKB
  • primary cilium Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 2 (RP2)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:312600
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61Missing in RP2; loss of membrane association; enhances interaction with ARL3. 4 Publications
VAR_008497
Natural varianti67 – 671C → Y in RP2. 1 Publication
VAR_018069
Natural varianti86 – 861C → Y in RP2. 2 Publications
VAR_018070
Natural varianti95 – 951P → L in RP2; uncertain pathological significance. 2 Publications
VAR_018071
Natural varianti108 – 1081C → G in RP2.
VAR_008498
Natural varianti108 – 1081C → Y in RP2. 1 Publication
VAR_068353
Natural varianti118 – 1181R → C in RP2. 1 Publication
VAR_026058
Natural varianti118 – 1181R → H in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location. 10 Publications
Corresponds to variant rs28933687 [ dbSNP | Ensembl ].
VAR_008499
Natural varianti118 – 1181R → L in RP2. 2 Publications
Corresponds to variant rs28933687 [ dbSNP | Ensembl ].
VAR_018072
Natural varianti137 – 1371Missing in RP2. 3 Publications
VAR_018073
Natural varianti138 – 1381E → G in RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3. 3 Publications
VAR_018074
Natural varianti188 – 1881L → P in RP2. 1 Publication
VAR_018075
Natural varianti253 – 2531L → R in RP2. 1 Publication
VAR_008500

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi2 – 21G → A: Loss of membrane association. 1 Publication
Mutagenesisi3 – 31C → S: Targeting to internal membranes. Loss of targeting to the plasma membrane. 1 Publication
Mutagenesisi28 – 281S → A: Reduces affinity for mouse ARL3; when associated with A-29. 1 Publication
Mutagenesisi29 – 291W → A: Reduces affinity for mouse ARL3; when associated with A-28. 1 Publication
Mutagenesisi31 – 311Q → A: Does not reduce affinity for mouse ARL3; when associated with A-32. 1 Publication
Mutagenesisi32 – 321R → A: Does not reduce affinity for mouse ARL3; when associated with A-31. 1 Publication
Mutagenesisi101 – 1011F → A: Reduces affinity for mouse ARL3. 1 Publication
Mutagenesisi115 – 1151Q → A: Reduces affinity for mouse ARL3. 1 Publication
Mutagenesisi116 – 1161Q → A: Reduces affinity and GTP-hydrolysis rate for mouse ARL3. 1 Publication
Mutagenesisi118 – 1181R → A: Reduces affinity and GTP-hydrolysis rate for mouse ARL3. 1 Publication
Mutagenesisi120 – 1201R → H: Reduces affinity for mouse ARL3; when associated with S-121. 1 Publication
Mutagenesisi121 – 1211D → S: Reduces affinity for mouse ARL3; when associated with H-120.
Mutagenesisi177 – 1771F → A: Reduces affinity and GTP-hydrolysis rate for mouse ARL3. 1 Publication

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MalaCardsiRP2.
MIMi312600. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34641.

Polymorphism and mutation databases

BioMutaiRP2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 350349Protein XRP2PRO_0000080047Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine1 Publication
Lipidationi3 – 31S-palmitoyl cysteine1 Publication1 Publication

Post-translational modificationi

Myristoylated on Gly-2; which may be required for membrane targeting.1 Publication
Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the protein to internal membranes.Curated1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

EPDiO75695.
MaxQBiO75695.
PaxDbiO75695.
PeptideAtlasiO75695.
PRIDEiO75695.

PTM databases

iPTMnetiO75695.
PhosphoSiteiO75695.
SwissPalmiO75695.

Expressioni

Tissue specificityi

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).3 Publications

Gene expression databases

BgeeiENSG00000102218.
CleanExiHS_RP2.
GenevisibleiO75695. HS.

Organism-specific databases

HPAiHPA000234.

Interactioni

Subunit structurei

Found in a complex with ARL3, RP2 and UNC119 (or UNC119B); RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119 (or UNC119B). Interacts with ARL3; interaction is direct and stimulated with the activated GTP-bound form of ARL3.4 Publications

GO - Molecular functioni

  • unfolded protein binding Source: ProtInc

Protein-protein interaction databases

BioGridi112029. 40 interactions.
DIPiDIP-29024N.
IntActiO75695. 4 interactions.
MINTiMINT-5003911.
STRINGi9606.ENSP00000218340.

Structurei

Secondary structure

1
350
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi39 – 446Combined sources
Beta strandi49 – 524Combined sources
Beta strandi62 – 665Combined sources
Beta strandi71 – 744Combined sources
Beta strandi81 – 855Combined sources
Beta strandi90 – 10415Combined sources
Beta strandi106 – 12116Combined sources
Beta strandi123 – 13311Combined sources
Beta strandi136 – 1394Combined sources
Beta strandi141 – 1477Combined sources
Helixi155 – 1617Combined sources
Beta strandi175 – 1784Combined sources
Beta strandi185 – 1884Combined sources
Helixi195 – 1973Combined sources
Helixi205 – 2073Combined sources
Turni216 – 2183Combined sources
Beta strandi235 – 2406Combined sources
Helixi246 – 25914Combined sources
Beta strandi263 – 2708Combined sources
Helixi274 – 2818Combined sources
Helixi282 – 2876Combined sources
Helixi289 – 2946Combined sources
Beta strandi297 – 3048Combined sources
Helixi307 – 31812Combined sources
Beta strandi324 – 3263Combined sources
Helixi330 – 34819Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2BX6X-ray2.10A1-350[»]
3BH6X-ray2.60B1-350[»]
3BH7X-ray1.90B1-350[»]
ProteinModelPortaliO75695.
SMRiO75695. Positions 37-350.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75695.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 179156C-CAP/cofactor C-likePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the TBCC family.Curated
Contains 1 C-CAP/cofactor C-like domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2512. Eukaryota.
ENOG410Y28B. LUCA.
GeneTreeiENSGT00530000063741.
HOGENOMiHOG000007790.
HOVERGENiHBG054784.
InParanoidiO75695.
KOiK18272.
OMAiFFLVQTK.
OrthoDBiEOG091G0K00.
PhylomeDBiO75695.
TreeFamiTF105832.

Family and domain databases

Gene3Di2.160.20.70. 1 hit.
InterProiIPR013912. Adenylate_cyclase-assoc_CAP_C.
IPR017901. C-CAP_CF_C-like.
IPR016098. CAP/MinC_C.
IPR006599. CARP_motif.
IPR017332. Protein_XRP2.
IPR012945. Tubulin-bd_cofactor_C_dom.
[Graphical view]
PANTHERiPTHR15440:SF0. PTHR15440:SF0. 1 hit.
PfamiPF07986. TBCC. 1 hit.
[Graphical view]
PIRSFiPIRSF037947. Protein_XRP2_. 1 hit.
SMARTiSM00673. CARP. 2 hits.
[Graphical view]
SUPFAMiSSF69340. SSF69340. 1 hit.
PROSITEiPS51329. C_CAP_COFACTOR_C. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O75695-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGCFFSKRRK ADKESRPENE EERPKQYSWD QREKVDPKDY MFSGLKDETV
60 70 80 90 100
GRLPGTVAGQ QFLIQDCENC NIYIFDHSAT VTIDDCTNCI IFLGPVKGSV
110 120 130 140 150
FFRNCRDCKC TLACQQFRVR DCRKLEVFLC CATQPIIESS SNIKFGCFQW
160 170 180 190 200
YYPELAFQFK DAGLSIFNNT WSNIHDFTPV SGELNWSLLP EDAVVQDYVP
210 220 230 240 250
IPTTEELKAV RVSTEANRSI VPISRGQRQK SSDESCLVVL FAGDYTIANA
260 270 280 290 300
RKLIDEMVGK GFFLVQTKEV SMKAEDAQRV FREKAPDFLP LLNKGPVIAL
310 320 330 340 350
EFNGDGAVEV CQLIVNEIFN GTKMFVSESK ETASGDVDSF YNFADIQMGI
Length:350
Mass (Da):39,641
Last modified:January 23, 2007 - v4
Checksum:i3C912B52C53A817E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti168 – 1681N → D in CAA07577 (PubMed:9697692).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61Missing in RP2; loss of membrane association; enhances interaction with ARL3. 4 Publications
VAR_008497
Natural varianti67 – 671C → Y in RP2. 1 Publication
VAR_018069
Natural varianti86 – 861C → Y in RP2. 2 Publications
VAR_018070
Natural varianti95 – 951P → L in RP2; uncertain pathological significance. 2 Publications
VAR_018071
Natural varianti108 – 1081C → G in RP2.
VAR_008498
Natural varianti108 – 1081C → Y in RP2. 1 Publication
VAR_068353
Natural varianti118 – 1181R → C in RP2. 1 Publication
VAR_026058
Natural varianti118 – 1181R → H in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location. 10 Publications
Corresponds to variant rs28933687 [ dbSNP | Ensembl ].
VAR_008499
Natural varianti118 – 1181R → L in RP2. 2 Publications
Corresponds to variant rs28933687 [ dbSNP | Ensembl ].
VAR_018072
Natural varianti137 – 1371Missing in RP2. 3 Publications
VAR_018073
Natural varianti138 – 1381E → G in RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3. 3 Publications
VAR_018074
Natural varianti144 – 1441K → R.
Corresponds to variant rs3126141 [ dbSNP | Ensembl ].
VAR_053961
Natural varianti188 – 1881L → P in RP2. 1 Publication
VAR_018075
Natural varianti253 – 2531L → R in RP2. 1 Publication
VAR_008500
Natural varianti282 – 2821R → W Might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold. 6 Publications
Corresponds to variant rs1805147 [ dbSNP | Ensembl ].
VAR_014535
Natural varianti338 – 3381D → Y.1 Publication
Corresponds to variant rs1805148 [ dbSNP | Ensembl ].
VAR_014536

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007590 mRNA. Translation: CAA07577.1.
AL050307, AL627143 Genomic DNA. Translation: CAB82030.2.
BC043348 mRNA. Translation: AAH43348.1.
BC053530 mRNA. Translation: AAH53530.1.
CCDSiCCDS14270.1.
RefSeqiNP_008846.2. NM_006915.2.
UniGeneiHs.44766.

Genome annotation databases

EnsembliENST00000218340; ENSP00000218340; ENSG00000102218.
GeneIDi6102.
KEGGihsa:6102.
UCSCiuc004dgw.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RP2 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007590 mRNA. Translation: CAA07577.1.
AL050307, AL627143 Genomic DNA. Translation: CAB82030.2.
BC043348 mRNA. Translation: AAH43348.1.
BC053530 mRNA. Translation: AAH53530.1.
CCDSiCCDS14270.1.
RefSeqiNP_008846.2. NM_006915.2.
UniGeneiHs.44766.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2BX6X-ray2.10A1-350[»]
3BH6X-ray2.60B1-350[»]
3BH7X-ray1.90B1-350[»]
ProteinModelPortaliO75695.
SMRiO75695. Positions 37-350.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112029. 40 interactions.
DIPiDIP-29024N.
IntActiO75695. 4 interactions.
MINTiMINT-5003911.
STRINGi9606.ENSP00000218340.

PTM databases

iPTMnetiO75695.
PhosphoSiteiO75695.
SwissPalmiO75695.

Polymorphism and mutation databases

BioMutaiRP2.

Proteomic databases

EPDiO75695.
MaxQBiO75695.
PaxDbiO75695.
PeptideAtlasiO75695.
PRIDEiO75695.

Protocols and materials databases

DNASUi6102.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218340; ENSP00000218340; ENSG00000102218.
GeneIDi6102.
KEGGihsa:6102.
UCSCiuc004dgw.5. human.

Organism-specific databases

CTDi6102.
GeneCardsiRP2.
GeneReviewsiRP2.
H-InvDBHIX0016754.
HGNCiHGNC:10274. RP2.
HPAiHPA000234.
MalaCardsiRP2.
MIMi300757. gene.
312600. phenotype.
neXtProtiNX_O75695.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34641.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2512. Eukaryota.
ENOG410Y28B. LUCA.
GeneTreeiENSGT00530000063741.
HOGENOMiHOG000007790.
HOVERGENiHBG054784.
InParanoidiO75695.
KOiK18272.
OMAiFFLVQTK.
OrthoDBiEOG091G0K00.
PhylomeDBiO75695.
TreeFamiTF105832.

Enzyme and pathway databases

ReactomeiR-HSA-5624138. Trafficking of myristoylated proteins to the cilium.

Miscellaneous databases

EvolutionaryTraceiO75695.
GeneWikiiRP2_(gene).
GenomeRNAii6102.
PROiO75695.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102218.
CleanExiHS_RP2.
GenevisibleiO75695. HS.

Family and domain databases

Gene3Di2.160.20.70. 1 hit.
InterProiIPR013912. Adenylate_cyclase-assoc_CAP_C.
IPR017901. C-CAP_CF_C-like.
IPR016098. CAP/MinC_C.
IPR006599. CARP_motif.
IPR017332. Protein_XRP2.
IPR012945. Tubulin-bd_cofactor_C_dom.
[Graphical view]
PANTHERiPTHR15440:SF0. PTHR15440:SF0. 1 hit.
PfamiPF07986. TBCC. 1 hit.
[Graphical view]
PIRSFiPIRSF037947. Protein_XRP2_. 1 hit.
SMARTiSM00673. CARP. 2 hits.
[Graphical view]
SUPFAMiSSF69340. SSF69340. 1 hit.
PROSITEiPS51329. C_CAP_COFACTOR_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiXRP2_HUMAN
AccessioniPrimary (citable) accession number: O75695
Secondary accession number(s): Q86XJ7, Q9NU67
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 154 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.