| Tag | Content |
|---|---|
| Uniprot ID | Q8CG73; G3X958; |
| Entrez ID | 244585 |
| Genbank protein ID | EDL11076.1; CAC87257.1; |
| Genbank nucleotide ID | NM_173431.2 |
| Ensembl protein ID | ENSMUSP00000042702 |
| Ensembl nucleotide ID | ENSMUSG00000033282 |
| Gene name | Protein fantom |
| Gene symbol | Rpgrip1l |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLP,CLO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 17553904; 17558409; 21677750; |
| Functional description | Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (By similarity). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (By similarity). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (PubMed:22927466). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (PubMed:26150391). |
| Sequence | MSGPSDETAG DLPVKDTGLN LFGVGGLQET STARTVKTRQ AVSRVSREEL EDRFLRLHDE 60 NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK RLGRDVEMEE MIEQLQEKVH 120 ELERQNEVLK NRLISAKQQL QVQGHRQTSY SRVQARVNTG RRRASASAGS QECPGKGLRF 180 QNVDEAETVQ PTLTKYSNSL LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLKRKE 240 NEIELSLLQL REQQATDQRS NIRDNVETIK LHKQLVEKSN ALSVIEGKFI QLQEKQRTLR 300 ISHDALMANG DELNKQLKEQ RLKCCSLEKQ LHSVRFSERR VEELQDRIND LEKERELLKE 360 NYDKLYNSAF SAAHEEQWKL KEQQMKVQIA QLETALKSDL TDKTEVLDKL KTERDQNEKL 420 VQENRDLQLQ CLQQKQRLHE LQSRLKFFNQ ESDINADDLS EALLLIKAQK EQKNGDLSFL 480 EKVDSKINKD LDRSMKELQA THAETVQELE KTRNMLIMQH KINKDYQMEV ETVTQKMENL 540 QQDYELKVEQ YVHLLDIRAA RIQKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL 600 ERGENLFEIH INKVTFSSEV LRASGDKELV TFCTYAFYDF ELQTTPIVRG LYPEYNFTSQ 660 YLVHVNDLFL QYIQKNTVTL ELHQAHSTDY ETIAACQLRF HEILEKSGRI FCTTSLVGTK 720 GDIPNFGTVE YWFRLRVPMD QAIRLYRERA KALGYITSNF KKPEKMQLSS QQAATTAQIS 780 PAESTDGNLN ELHVTVKCCT GLQSRASYLQ PHAYVVYKFF DFPDHDTAIV PSSNDPQFDD 840 HMCFPVPMNM DLDRYLKSES LSFYVFDDSD TQENIYMGKV NVPLISLAHD KCISGIFELM 900 DKEKHAAGTI QVILKWKFTY LPPSGSITTE DLGKFVCREE PEAVQRLPPK SSDVTSVVAP 960 KPKPRQRLTF VDKKVSFADT ISHPSPETSP PPKDIKDSSP EVGPKPENGL SAVAYPSKES 1020 GVAKVEENVG EMQQGKEDDI SFLSEGQLAS GSVASSEDET EITEELEPED EDRSASDSDD 1080 CIIPSSVSTN TKQPSEEIRI EIIALNLNDS QITREDTIQR LFIECRFYSL PAEETPMSLP 1140 KPQSGQWVYY NYSNVIYLDK ENNPAVRDIL KAILQRRELP HRSVRFTVVS DPPEDEQDLE 1200 CEDIGVAHVD LADLFQKGRD IIEQDIDVLD ARTDGGTIGK LKVTVEALHA LRSVYEQNRK 1260 DLEA 1264 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | RPGRIP1L | 102182622 | A0A452EW23 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | RPGRIP1L | 23322 | Q68CZ1 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Rpgrip1l | 244585 | Q8CG73 | CPO,CLP,CLO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | RPGRIP1L | 454089 | K7B740 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | RPGRIP1L | A0A286ZM09 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Rpgrip1l | 307724 | D3Z8G3 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | rpgrip1l | 557688 | E7F4E7 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005515 | protein binding | IPI |
| GO:0031870 | thromboxane A2 receptor binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001736 | establishment of planar polarity | IMP |
| GO:0001822 | kidney development | IMP |
| GO:0001889 | liver development | IMP |
| GO:0007163 | establishment or maintenance of cell polarity | IMP |
| GO:0007368 | determination of left/right symmetry | IMP |
| GO:0007420 | brain development | IMP |
| GO:0008589 | regulation of smoothened signaling pathway | IMP |
| GO:0021532 | neural tube patterning | IMP |
| GO:0021537 | telencephalon development | IMP |
| GO:0021549 | cerebellum development | IMP |
| GO:0021670 | lateral ventricle development | IMP |
| GO:0021772 | olfactory bulb development | IMP |
| GO:0022038 | corpus callosum development | IMP |
| GO:0035108 | limb morphogenesis | IMP |
| GO:0035115 | embryonic forelimb morphogenesis | IMP |
| GO:0035116 | embryonic hindlimb morphogenesis | IMP |
| GO:0043010 | camera-type eye development | IMP |
| GO:0043584 | nose development | IMP |
| GO:0045744 | negative regulation of G protein-coupled receptor signaling pathway | ISS |
| GO:0045744 | negative regulation of G protein-coupled receptor signaling pathway | ISO |
| GO:0060039 | pericardium development | IMP |
| GO:0060271 | cilium assembly | IMP |
| GO:0060322 | head development | IMP |
| GO:0090102 | cochlea development | IMP |
| GO:1905515 | non-motile cilium assembly | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005654 | nucleoplasm | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0005813 | centrosome | ISO |
| GO:0005829 | cytosol | ISO |
| GO:0005879 | axonemal microtubule | ISO |
| GO:0005886 | plasma membrane | ISO |
| GO:0005911 | cell-cell junction | ISS |
| GO:0005911 | cell-cell junction | ISO |
| GO:0005923 | bicellular tight junction | IEA |
| GO:0005929 | cilium | ISO |
| GO:0005930 | axoneme | ISO |
| GO:0032391 | photoreceptor connecting cilium | ISO |
| GO:0035253 | ciliary rootlet | ISO |
| GO:0035869 | ciliary transition zone | ISO |
| GO:0035869 | ciliary transition zone | IDA |
| GO:0036064 | ciliary basal body | ISO |
| GO:0036064 | ciliary basal body | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-1852241 | Organelle biogenesis and maintenance | IEA |
| R-MMU-5358351 | Signaling by Hedgehog | IEA |
| R-MMU-5610787 | Hedgehog 'off' state | IEA |
| R-MMU-5617833 | Cilium Assembly | IEA |
| R-MMU-5620912 | Anchoring of the basal body to the plasma membrane | IEA |
| PROSITE ID | PROSITE Term |
|---|---|
| PS50004 | C2 |