Protein: X-linked retinitis pigmentosa GTPase regulator (mRpgr) (Q9R0X5)
Organism: Mus musculus (Mouse)
Function: Could be a guanine-nucleotide releasing factor (By similarity). Plays a role in ciliogenesis (By similarity). Probably regulates cilia formation by regulating actin stress filaments and cell contractility (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia (By similarity). Plays an important role in photoreceptor integrity. Isoform 5 may play a critical role in spermatogenesis and in intraflagellar transport processes.
Subcellular location: Golgi apparatus {ECO:0000269|PubMed:15772089, ECO:0000269|PubMed:16043481, ECO:0000269|PubMed:20007830, ECO:0000269|PubMed:9677393}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q92834}. Cell projection, cilium {ECO:0000269|PubMed:29899041, ECO:0000269|PubMed:38536817}. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (PubMed:29899041, PubMed:38536817). Colocalizes with WHRN in the photoreceptor connecting cilium (PubMed:22323458). Colocalizes with CEP290 in the photoreceptor connecting cilium (PubMed:16632484). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (PubMed:15772089). Colocalizes with RPGR at the primary cilia of epithelial cells (By similarity). {ECO:0000250|UniProtKB:Q9N1T2, ECO:0000269|PubMed:15772089, ECO:0000269|PubMed:16632484, ECO:0000269|PubMed:22323458, ECO:0000269|PubMed:29899041, ECO:0000269|PubMed:38536817}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:20007830}.
InterPro domains:
- IPR000408: Regulator of chromosome condensation, RCC1 (repeat) [54-367]
- IPR009091: Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II (homologous_superfamily) [2-369]
- IPR051625: Diverse Signaling and Regulatory Domain-Containing Protein (family) [10-363]
Sequence:
MAESESLVPDTGAVFTFGKTKFAENIPSKFWFKNDIPICLSCGDEHTAIVTGNNKLYMFGSNNWGQLGLGSKAAIIKPTCIKALKPEKVKLAACGRNHTLVSTDTGGVYAAGGNNEGQLGLGDTDDRDTFHQIVFFTPADTIKQLSAGANTSAALTEDGKLFMWGDNSEGQIGLEDKSNVCIPHEVTVGKPISWISCGYYHSAFVTMDGELYTFGEPENGKLGLPNELLMNHRSPQRVLGIPERVIQVACGGGHTVVLTEKVVYAFGLGQFGQLGLGTFLFETSEPKIIERIKDQKICHISCGENHTALMTELGLLYTFGDGRHGKLGLGMENFTNQFFPTLCSNFLRFAVQLIACGGCHMLVFATPRLGTIDEPKFEDVYEPYISTGSFSINDLSPRSSLNRSLSARLRRRERERPPCSASMVGTLPPLEGTSASTSAYFYPSSPPFHLSVNNYPEKSPSESMEPLDSDYFEDKMNKDTETENSSAVDSENFGETNDILNMTHMMTTSSNEKLLDFSPIQKQQNQDTFEKVMESTPCTENEDSYEYEEMSKIKEVTVYKQYLAKGIYMIRPAEILEAFSDEEVGNGLDQVEEPRVFTDGKGLQSKQVGKESDEEIVSEKKTEVMEVADVKKIRESEENSKSDSLFDDLPDKTMNSESEDNKDIAEERRSSEQNMTFDSETELVEEPDSYMECERHSEQDSAEELEQPKLVEYSSEEKDEKDEKDDDEVETENLWYDRNCTEQETENVFRATRFFPKFDLKHDHLSGIPEEQEGPEDSEGNVVVEQVVQAQKENLEFEGDRKEAKAEAPSDVITEKEAPQLSETVKPEEGEMDEEISILNVEDTVEEERKEGEKEIVEEGSIPETEGSETIDITDEKLDEVLKEEDSASLLQRALREYNENPKGHMYDRVKSSSSEILGGNDPTSKDIKKAKKISFFNRMSLTGQKLMQNTNDPLPEIKPIGDQIALQSDKKDANQNHMGQNLQDSTTPNMEGKSKSCTIL
Predicted GO terms:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0051179 (localization), GO:0022414 (reproductive process), GO:0000003 (reproduction), GO:0032501 (multicellular organismal process), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0019953 (sexual reproduction), GO:0048869 (cellular developmental process), GO:0051641 (cellular localization), GO:0048856 (anatomical structure development), GO:0007275 (multicellular organism development), GO:0009653 (anatomical structure morphogenesis), GO:0007389 (pattern specification process), GO:0051234 (establishment of localization), GO:0071840 (cellular component organization or biogenesis), GO:0032504 (multicellular organism reproduction), GO:0003006 (developmental process involved in reproduction), GO:0048646 (anatomical structure formation involved in morphogenesis), GO:0033036 (macromolecule localization), GO:0022412 (cellular process involved in reproduction in multicellular organism), GO:0007017 (microtubule-based process), GO:0048609 (multicellular organismal reproductive process), GO:0007276 (gamete generation), GO:0007281 (germ cell development), GO:0044085 (cellular component biogenesis), GO:0048468 (cell development), GO:0030154 (cell differentiation), GO:0060042 (retina morphogenesis in camera-type eye), GO:0048731 (system development), GO:0048513 (animal organ development), GO:0048515 (spermatid differentiation), GO:0003407 (neural retina development), GO:0009799 (specification of symmetry), GO:0000226 (microtubule cytoskeleton organization), GO:0060041 (retina development in camera-type eye), GO:0007283 (spermatogenesis), GO:0045184 (establishment of protein localization), GO:0009887 (animal organ morphogenesis), GO:0010842 (retina layer formation), GO:0003002 (regionalization), GO:0006810 (transport), GO:0070727 (cellular macromolecule localization), GO:0016043 (cellular component organization), GO:0030030 (cell projection organization), GO:0071705 (nitrogen compound transport), GO:0048880 (sensory system development), GO:0007423 (sensory organ development), GO:0090596 (sensory organ morphogenesis), GO:0071702 (organic substance transport), GO:0007286 (spermatid development), GO:0001578 (microtubule bundle formation), GO:0048666 (neuron development), GO:0022607 (cellular component assembly), GO:0009855 (determination of bilateral symmetry), GO:0022008 (neurogenesis), GO:0007399 (nervous system development), GO:0060972 (left/right pattern formation), GO:0015031 (protein transport), GO:0072359 (circulatory system development), GO:0008104 (protein localization), GO:0006996 (organelle organization), GO:0048232 (male gamete generation), GO:0030182 (neuron differentiation), GO:0007507 (heart development), GO:0070925 (organelle assembly), GO:0007368 (determination of left/right symmetry), GO:0048592 (eye morphogenesis), GO:0001654 (eye development), GO:0030031 (cell projection assembly), GO:0046530 (photoreceptor cell differentiation), GO:0120036 (plasma membrane bounded cell projection organization), GO:0035082 (axoneme assembly), GO:0150063 (visual system development), GO:0042461 (photoreceptor cell development), GO:0048699 (generation of neurons), GO:0044782 (cilium organization), GO:0060271 (cilium assembly), GO:0043010 (camera-type eye development), GO:0120031 (plasma membrane bounded cell projection assembly), GO:0048593 (camera-type eye morphogenesis), GO:0001754 (eye photoreceptor cell differentiation), GO:0042462 (eye photoreceptor cell development)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0043226 (organelle), GO:0042995 (cell projection), GO:0043227 (membrane-bounded organelle), GO:0120025 (plasma membrane bounded cell projection), GO:0005929 (cilium)