| UniProt ID | FTM_HUMAN | |
|---|---|---|
| UniProt AC | Q68CZ1 | |
| Protein Name | Protein fantom | |
| Gene Name | RPGRIP1L | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 1315 | |
| Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cell junction, tight junction . In cultured renal cells, it localizes diffusely in t | |
| Protein 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] | |
| Protein Sequence | MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 2 | Phosphorylation | ------MSGPTDETA ------CCCCCCCCC | 65.86 | 23401153 | |
| 5 | Phosphorylation | ---MSGPTDETAGDL ---CCCCCCCCCCCC | 50.41 | 23401153 | |
| 8 | Phosphorylation | MSGPTDETAGDLPVK CCCCCCCCCCCCCCC | 38.46 | 30576142 | |
| 145 | Phosphorylation | QQLQTQGYRQTPYNN HHHHHCCCCCCCCCC | 6.96 | 28555341 | |
| 148 | Phosphorylation | QTQGYRQTPYNNVQS HHCCCCCCCCCCHHH | 20.81 | 28555341 | |
| 150 | Phosphorylation | QGYRQTPYNNVQSRI CCCCCCCCCCHHHHH | 23.82 | - | |
| 196 | Phosphorylation | PHPMFTKYGNSLLEE CCCCHHHHHHHHHHH | 20.62 | - | |
| 199 | Phosphorylation | MFTKYGNSLLEEARG CHHHHHHHHHHHHHH | 29.93 | - | |
| 246 | Phosphorylation | KENEIELSLLQLREQ HHCHHHHHHHHHHHH | 17.78 | 18452278 | |
| 364 | Ubiquitination | LLKENYDKLYDSAFS HHHHHHHHHHHHHHH | 38.29 | - | |
| 368 | Phosphorylation | NYDKLYDSAFSAAHE HHHHHHHHHHHHHHH | 20.04 | 17929957 | |
| 397 | Acetylation | AQLETALKSDLTDKT HHHHHHHHCCCCCHH | 39.19 | 30592019 | |
| 401 | Phosphorylation | TALKSDLTDKTEILD HHHHCCCCCHHHHHH | 40.20 | 22210691 | |
| 403 | Ubiquitination | LKSDLTDKTEILDRL HHCCCCCHHHHHHHH | 42.70 | - | |
| 448 | Phosphorylation | LKKRIKLYNQENDIN HHHHHHHHHCCCCCC | 15.14 | 24719451 | |
| 460 | Phosphorylation | DINADELSEALLLIK CCCHHHHHHHHHHHH | 20.83 | 24719451 | |
| 478 | Phosphorylation | EQKNGDLSFLVKVDS HHCCCCCEEEEEECH | 22.67 | 28555341 | |
| 489 | Ubiquitination | KVDSEINKDLERSMR EECHHHHHHHHHHHH | 70.16 | - | |
| 511 | Ubiquitination | ETVQELEKTRNMLIM HHHHHHHHHHCHHHH | 66.46 | - | |
| 544 | Phosphorylation | MENLQQDYELKVEQY HHHHHHHHHCHHHHH | 20.87 | 30622161 | |
| 574 | Phosphorylation | AQLKDIAYGTKQYKF HHHHHHHCCCCCCCC | 26.17 | 26270265 | |
| 576 | Phosphorylation | LKDIAYGTKQYKFKP HHHHHCCCCCCCCCC | 11.42 | 26270265 | |
| 577 | Ubiquitination | KDIAYGTKQYKFKPE HHHHCCCCCCCCCCC | 47.47 | - | |
| 590 | Phosphorylation | PEIMPDDSVDEFDET CCCCCCCCCCCCCCC | 38.56 | 28348404 | |
| 761 | Ubiquitination | GYITSNFKGPEHMQS CHHHCCCCCHHHHHH | 77.22 | - | |
| 894 | Phosphorylation | LAHDRCISGIFELTD CCCCHHHHCCEECCC | 29.48 | 22210691 | |
| 900 | Phosphorylation | ISGIFELTDHQKHPA HHCCEECCCCCCCCC | 25.00 | 22210691 | |
| 985 | Phosphorylation | VDIMPHQSDETSPPP EECCCCCCCCCCCCC | 34.09 | 23312004 | |
| 988 | Phosphorylation | MPHQSDETSPPPEDR CCCCCCCCCCCCHHH | 52.07 | 23312004 | |
| 989 | Phosphorylation | PHQSDETSPPPEDRK CCCCCCCCCCCHHHC | 33.10 | 23312004 | |
| 999 | Phosphorylation | PEDRKEISPEVEHIP CHHHCCCCCCCCCCC | 18.99 | 26471730 | |
| 1026 | Phosphorylation | PKVSQEGSVDEVKEN CCCCCCCCHHHHHHH | 26.16 | 26471730 | |
| 1034 | Phosphorylation | VDEVKENTEKMQQGK HHHHHHHHHHHHCCC | 37.77 | 30619164 | |
| 1227 | Ubiquitination | ILKAILQKQEMPNRS HHHHHHHCCCCCCCC | 44.79 | - |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of FTM_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of FTM_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of FTM_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM 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. | ||||||
| 611560 | ||||||
| 611561 | Meckel syndrome 5 (MKS5) | |||||
| 216360 | COACH syndrome (COACHS) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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