| Tag | Content |
|---|---|
| Uniprot ID | Q68CZ1; A0PJ88; Q9Y2K8; |
| Entrez ID | 23322 |
| Genbank protein ID | CAH18439.1; AAH17977.1; BAA76849.1; |
| Genbank nucleotide ID | NM_001127897.3; NM_015272.4; |
| Ensembl protein ID | ENSP00000262135; ENSP00000493946; |
| Ensembl nucleotide ID | ENSG00000103494 |
| Gene name | Protein fantom |
| Gene symbol | RPGRIP1L |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). 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; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity). |
| Sequence | MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL EDRFLRLHDE 60 NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK RLGRDVEMEE MIEQLQEKVH 120 ELEKQNETLK NRLISAKQQL QTQGYRQTPY NNVQSRINTG RRKANENAGL QECPRKGIKF 180 QDADVAETPH PMFTKYGNSL LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE 240 NEIELSLLQL REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR 300 ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND LEKERELLKE 360 NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL TDKTEILDRL KTERDQNEKL 420 VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ ENDINADELS EALLLIKAQK EQKNGDLSFL 480 VKVDSEINKD LERSMRELQA THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL 540 QQDYELKVEQ YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL 600 ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG LHPEYNFTSQ 660 YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF HEILEKSGRI FCTASLIGTK 720 GDIPNFGTVE YWFRLRVPMD QAIRLYRERA KALGYITSNF KGPEHMQSLS QQAPKTAQLS 780 STDSTDGNLN ELHITIRCCN HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD 840 HMYFPVPMNM DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT 900 DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA SSVSTLVLAP 960 RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP EVEHIPEIEI NMLTVPHVPK 1020 VSQEGSVDEV KENTEKMQQG KDDVSLLSEG QLAEQSLASS EDETEITEDL EPEVEEDMSA 1080 SDSDDCIIPG PISKNIKQSL ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC 1140 HHTQPSEKIR IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY 1200 YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL ECEDIGVAHV 1260 DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH ALQSVYKQYR DDLEA 1315 |
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.