Description: Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. RefSeq Summary (NM_015272): The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]. Transcript (Including UTRs) Position: hg19 chr16:53,633,818-53,737,771 Size: 103,954 Total Exon Count: 27 Strand: - Coding Region Position: hg19 chr16:53,635,988-53,734,635 Size: 98,648 Coding Exon Count: 26
ID:FTM_HUMAN DESCRIPTION: RecName: Full=Protein fantom; AltName: Full=Nephrocystin-8; AltName: Full=RPGR-interacting protein 1-like protein; Short=RPGRIP1-like protein; FUNCTION: Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). SUBUNIT: Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8. Interacts with TBXA2R (via C-terminus). Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGR. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, centrosome. Cell junction, tight junction. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. TISSUE SPECIFICITY: Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney. DISEASE: Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome. DISEASE: Defects in RPGRIP1L are the cause of Joubert syndrome type 7 (JBTS7) [MIM:611560]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. DISEASE: Defects in RPGRIP1L are the cause of Meckel syndrome type 5 (MKS5) [MIM:611561]. MKS is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. DISEASE: Defects in RPGRIP1L are a cause of COACH syndrome (COACHS) [MIM:216360]. It is a disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain- hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. SIMILARITY: Belongs to the RPGRIP1 family. SIMILARITY: Contains 2 C2 domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q68CZ1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0031870 thromboxane A2 receptor binding
Biological Process: GO:0001736 establishment of planar polarity GO:0032502 developmental process GO:0045744 negative regulation of G-protein coupled receptor protein signaling pathway GO:0097711 ciliary basal body docking
AB023222 - Homo sapiens mRNA for KIAA1005 protein, partial cds. JD565213 - Sequence 546237 from Patent EP1572962. CR749645 - Homo sapiens mRNA; cDNA DKFZp686C0668 (from clone DKFZp686C0668). JD556521 - Sequence 537545 from Patent EP1572962. JD501080 - Sequence 482104 from Patent EP1572962. JD349590 - Sequence 330614 from Patent EP1572962. JD507959 - Sequence 488983 from Patent EP1572962. AK026552 - Homo sapiens cDNA: FLJ22899 fis, clone KAT05174. AK093307 - Homo sapiens cDNA FLJ35988 fis, clone TESTI2014274. JD468041 - Sequence 449065 from Patent EP1572962. JD147385 - Sequence 128409 from Patent EP1572962. AK307929 - Homo sapiens cDNA, FLJ97877. JD259173 - Sequence 240197 from Patent EP1572962. JD235405 - Sequence 216429 from Patent EP1572962. BC136433 - Homo sapiens RPGRIP1-like, mRNA (cDNA clone MGC:168045 IMAGE:9020422), complete cds. JD352799 - Sequence 333823 from Patent EP1572962. AK304790 - Homo sapiens cDNA FLJ52077 complete cds, weakly similar to X-linked retinitis pigmentosa GTPase regulator-interacting protein 1. JD213206 - Sequence 194230 from Patent EP1572962. JD241955 - Sequence 222979 from Patent EP1572962. JD341576 - Sequence 322600 from Patent EP1572962. JD463171 - Sequence 444195 from Patent EP1572962. JD146220 - Sequence 127244 from Patent EP1572962. JD213208 - Sequence 194232 from Patent EP1572962. AK308390 - Homo sapiens cDNA, FLJ98338. AK096333 - Homo sapiens cDNA FLJ39014 fis, clone NT2RP6000085, weakly similar to Bos taurus RPGR-interacting protein-1 (RPGRIP1) mRNA. BC017977 - Homo sapiens RPGRIP1-like, mRNA (cDNA clone IMAGE:4697938), partial cds. EF565106 - Homo sapiens chromosome 16 isolate HA_003255 mRNA sequence. JD216425 - Sequence 197449 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q68CZ1 (Reactome details) participates in the following event(s):
R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-5617833 Cilium Assembly R-HSA-1852241 Organelle biogenesis and maintenance
US Server
