UniProt:Q68CZ1 RPGRIP1L

chain
  • chain:1-1315
checksum 694B83C6A109E50A
comment
  • FUNCTION 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).SUBUNIT Interacts with NPHP4 and NPHP1; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors (By similarity). Interacts with TBXA2R (via C-terminus). Interacts with RPGR. Interacts with NEK4. Interacts with NPHP4, INVS and DVL2; the complex is proposed to be involved in DVL2 stabilization.INTERACTION In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone.ALTERNATIVE PRODUCTS 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 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 The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the RPGRIP1 family.ONLINE INFORMATION Leiden Open Variation Database (LOVD)
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 229968
description
  • recommendedName: Protein fantom alternativeName: Nephrocystin-8 alternativeName: RPGR-interacting protein 1-like protein shortName: RPGRIP1-like protein
displayName UniProt:Q68CZ1 RPGRIP1L
geneName
  • RPGRIP1L
  • FTM
  • KIAA1005
  • NPHP8
identifier Q68CZ1
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Cell junction
  • Cell projection
  • Ciliopathy
  • Cilium
  • Coiled coil
  • Cytoplasm
  • Cytoskeleton
  • Disease variant
  • Joubert syndrome
  • Meckel syndrome
  • Reference proteome
  • Repeat
  • Tight junction
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • RPGRIP1L
otherIdentifier
  • 11733237_a_at
  • 11733238_a_at
  • 11733239_x_at
  • 11747108_a_at
  • 16826552
  • 213959_PM_s_at
  • 213959_s_at
  • 23322
  • 3692032
  • 3692034
  • 3692035
  • 3692036
  • 3692037
  • 3692038
  • 3692043
  • 3692045
  • 3692051
  • 3692052
  • 3692053
  • 3692054
  • 3692055
  • 3692057
  • 3692059
  • 3692060
  • 3692065
  • 3692066
  • 3692067
  • 3692068
  • 3692070
  • 3692072
  • 3692073
  • 3692074
  • 3692075
  • 3692077
  • 3692079
  • 3692080
  • 3692086
  • 3692088
  • 3692091
  • 37773_at
  • 8001423
  • A_23_P388489
  • A_32_P123966
  • A_33_P3302861
  • GE53650
  • GO:0001701
  • GO:0001736
  • GO:0001822
  • GO:0001889
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005737
  • GO:0005813
  • GO:0005815
  • GO:0005829
  • GO:0005856
  • GO:0005879
  • GO:0005886
  • GO:0005911
  • GO:0005923
  • GO:0005929
  • GO:0005930
  • GO:0007163
  • GO:0007368
  • GO:0007420
  • GO:0008589
  • GO:0021532
  • GO:0021537
  • GO:0021549
  • GO:0021670
  • GO:0021772
  • GO:0022038
  • GO:0023052
  • GO:0030154
  • GO:0031870
  • GO:0032391
  • GO:0035108
  • GO:0035115
  • GO:0035116
  • GO:0035253
  • GO:0035869
  • GO:0036064
  • GO:0042995
  • GO:0043010
  • GO:0043226
  • GO:0043584
  • GO:0044782
  • GO:0045744
  • GO:0046548
  • GO:0048856
  • GO:0060039
  • GO:0060271
  • GO:0060322
  • GO:0070161
  • GO:0090102
  • GO:1905515
  • HMNXSV003015794
  • HMNXSV003050145
  • Hs.12328.0.S1_3p_a_at
  • ILMN_1677581
  • PH_hs_0032118
  • TC16001121.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • FTM_HUMAN
  • A0PJ88
  • Q9Y2K8
sequenceLength 1315
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/Q68CZ1
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