• Gene id: 23322

Gene Summary

• Gene Symbol: RPGRIP1L   Gene   UCSC   Ensembl
• Aliases: CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
• Gene name: RPGRIP1 like
• Alternate names: protein fantom, RPGR-interacting protein 1-like protein, fantom homolog, nephrocystin-8, protein phosphatase 1, regulatory subunit 134,
• Gene location: 16q12.2 (53703937: 53598152)     Exons: 37     NC_000016.10
• Gene summary(Entrez): 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 syndr
• OMIM: 602768

Protein Summary

• Protein general information: Q68CZ1  
  • Name: Protein fantom (Nephrocystin 8) (RPGR interacting protein 1 like protein) (RPGRIP1 like protein)
  • Length: 1315  
  • Mass: 151201
  • 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. {ECO
• Sequence:

  MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKI
  KRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPY
  NNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEEL
  EHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLR
  ISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHE
  EQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQ
  ENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKD
  YQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHL
  ERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQK
  NTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERA
  KALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADH
  DTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELT
  DHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKV
  SFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEG
  QLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSD
  FPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVY
  YNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQ
  NIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA

• Structural information:
  • Protein Domains: (577..71-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (773..89-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR021656  IPR000008  IPR035892  IPR041091  IPR031139   IPR031136  
  • Prosite: PS50004
  • PDB: 2YRB
  • PDBsum: 2YRB
  • STRING: ENSP00000369257
• Other Databases: GeneCards:  RPGRIP1L  Malacards:  RPGRIP1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0031870	thromboxane A2 receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032502	developmental process	IEA	biological process
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0060039	pericardium development	IEA	biological process
GO:0043584	nose development	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0021772	olfactory bulb development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0035253	ciliary rootlet	IEA	cellular component
GO:0005879	axonemal microtubule	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0060322	head development	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0022038	corpus callosum development	IEA	biological process
GO:0021670	lateral ventricle development	IEA	biological process
GO:0021532	neural tube patterning	IEA	biological process
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007163	establishment or maintenance of cell polarity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001889	liver development	IEA	biological process
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
COACH syndrome	KEGG:H01001
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
COACH syndrome	KEGG:H01001
Cerebellar ataxia	PMID:17558409
Anencephaly	PMID:17558409
retinitis pigmentosa 3	PMID:22183348
Joubert syndrome	PMID:17960139
Intellectual disability	PMID:17558409
nephronophthisis	PMID:17558409
Cystic kidney disease	PMID:17558409
Vascular dementia	PMID:22425971
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray