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Q68CZ1 (FTM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein fantom
Alternative name(s):
Nephrocystin-8
RPGR-interacting protein 1-like protein
Short name=RPGRIP1-like protein
Gene names
Name:RPGRIP1L
Synonyms:FTM, KIAA1005, NPHP8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1315 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). 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 in kidney cells together with NPHP1 and NPHP4 By similarity. Does not seem to be strictly required for ciliogenesis By similarity. Ref.9

Subunit structure

Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8. Interacts with TBXA2R (via C-terminus). Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGR. Ref.6 Ref.8 Ref.9 Ref.10

Subcellular location

Cytoplasm. Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletoncilium axoneme. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell junctiontight junction. Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Ref.5 Ref.6 Ref.10

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. Ref.5 Ref.6 Ref.7 Ref.9

Involvement in 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.

Joubert syndrome 7 (JBTS7) [MIM:611560]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.14

Meckel syndrome 5 (MKS5) [MIM:611561]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.8

COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Sequence similarities

Belongs to the RPGRIP1 family.

Contains 2 C2 domains.

Ontologies

Keywords
   Cellular componentCell junction
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Tight junction
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
Joubert syndrome
Meckel syndrome
   DomainCoiled coil
Repeat
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcamera-type eye development

Inferred from electronic annotation. Source: Ensembl

cerebellum development

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Inferred from electronic annotation. Source: Ensembl

corpus callosum development

Inferred from electronic annotation. Source: Ensembl

determination of left/right symmetry

Inferred from electronic annotation. Source: Ensembl

embryonic forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

establishment or maintenance of cell polarity

Inferred from electronic annotation. Source: Ensembl

head development

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

kidney development

Inferred from electronic annotation. Source: Ensembl

lateral ventricle development

Inferred from electronic annotation. Source: Ensembl

liver development

Inferred from electronic annotation. Source: Ensembl

negative regulation of G-protein coupled receptor protein signaling pathway

Inferred from direct assay Ref.9. Source: UniProtKB

neural tube patterning

Inferred from electronic annotation. Source: Ensembl

nose development

Inferred from electronic annotation. Source: Ensembl

olfactory bulb development

Inferred from electronic annotation. Source: Ensembl

pericardium development

Inferred from electronic annotation. Source: Ensembl

regulation of smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentaxoneme

Inferred from direct assay Ref.5. Source: MGI

cell-cell junction

Inferred from direct assay Ref.10. Source: UniProtKB

centrosome

Inferred from direct assay PubMed 21399614. Source: UniProtKB

ciliary basal body

Inferred from direct assay Ref.5. Source: MGI

cilium

Inferred from direct assay Ref.5. Source: MGI

cytoplasm

Inferred from direct assay Ref.5. Source: MGI

tight junction

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionthromboxane A2 receptor binding

Inferred from physical interaction Ref.9. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q68CZ1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q68CZ1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     987-1020: Missing.
     1099-1144: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13151315Protein fantom
PRO_0000291267

Regions

Domain615 – 71298C2 1
Domain777 – 881105C2 2
Coiled coil64 – 14481 Potential
Coiled coil197 – 25660 Potential
Coiled coil326 – 555230 Potential

Natural variations

Alternative sequence987 – 102034Missing in isoform 2.
VSP_026161
Alternative sequence1099 – 114446Missing in isoform 2.
VSP_026162
Natural variant1991S → G Found in a patient with Leber congenital amaurosis. Ref.8
VAR_066476
Natural variant2291A → T Polymorphism associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes; abrogates interaction with RPGR; found in patients with Leber congenital amaurosis, Senior-Loken syndrome, Joubert syndrome and Bardet-Biedl syndrome. Ref.8
Corresponds to variant rs61747071 [ dbSNP | Ensembl ].
VAR_066477
Natural variant4471L → S. Ref.8
Corresponds to variant rs138155747 [ dbSNP | Ensembl ].
VAR_066478
Natural variant5461L → F in a patient with Leber congenital amaurosis. Ref.8
Corresponds to variant rs147331527 [ dbSNP | Ensembl ].
VAR_066479
Natural variant5501Q → R in JBTS7. Ref.14
VAR_069234
Natural variant6151T → P in JBTS7; affects interaction with NPHP4. Ref.5 Ref.6
Corresponds to variant rs121918198 [ dbSNP | Ensembl ].
VAR_039393
Natural variant6471V → I. Ref.8
Corresponds to variant rs145572901 [ dbSNP | Ensembl ].
VAR_066480
Natural variant6591S → P in COACHS. Ref.13
VAR_063805
Natural variant6771T → I in a patient with cystic kidney dysplasia, retinitis pigmentosa and cerebellar ataxia without molar tooth sign; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. Ref.5 Ref.8
VAR_039394
Natural variant6951A → P in JBTS7; seems not to affect interaction with NPHP4. Ref.5
Corresponds to variant rs121918200 [ dbSNP | Ensembl ].
VAR_039395
Natural variant7441R → Q.
Corresponds to variant rs2302677 [ dbSNP | Ensembl ].
VAR_039396
Natural variant9371R → L in a patient with Leber congenital amaurosis. Ref.8
VAR_066481
Natural variant10251G → S. Ref.8
Corresponds to variant rs2111119 [ dbSNP | Ensembl ].
VAR_039397
Natural variant11831A → G in a patient with Meckel-Gruber like syndrome also carrying L-220 and V-280 in TTC21B; also found in patients with Leber congenital amaurosis and a patient with Bardet-Biedl syndrome. Ref.8 Ref.11
Corresponds to variant rs139974543 [ dbSNP | Ensembl ].
VAR_065556
Natural variant12361R → C in MKS5. Ref.8
Corresponds to variant rs151332923 [ dbSNP | Ensembl ].
VAR_066482
Natural variant12641D → N. Ref.8
Corresponds to variant rs3213758 [ dbSNP | Ensembl ].
VAR_039398
Natural variant12641D → Y in patients with Leber congenital amaurosis. Ref.8
VAR_066483

Experimental info

Sequence conflict3001R → K in BAA76849. Ref.4
Sequence conflict5751G → D in CAH18439. Ref.1
Sequence conflict5951D → G in CAH18439. Ref.1
Sequence conflict9921P → L in CAH18439. Ref.1
Sequence conflict11431T → S in CAH18439. Ref.1

Secondary structure

......................... 1315
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 694B83C6A109E50A

FASTA1,315151,201
        10         20         30         40         50         60 
MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL EDRFLRLHDE 

        70         80         90        100        110        120 
NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK RLGRDVEMEE MIEQLQEKVH 

       130        140        150        160        170        180 
ELEKQNETLK NRLISAKQQL QTQGYRQTPY NNVQSRINTG RRKANENAGL QECPRKGIKF 

       190        200        210        220        230        240 
QDADVAETPH PMFTKYGNSL LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE 

       250        260        270        280        290        300 
NEIELSLLQL REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR 

       310        320        330        340        350        360 
ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND LEKERELLKE 

       370        380        390        400        410        420 
NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL TDKTEILDRL KTERDQNEKL 

       430        440        450        460        470        480 
VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ ENDINADELS EALLLIKAQK EQKNGDLSFL 

       490        500        510        520        530        540 
VKVDSEINKD LERSMRELQA THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL 

       550        560        570        580        590        600 
QQDYELKVEQ YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL 

       610        620        630        640        650        660 
ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG LHPEYNFTSQ 

       670        680        690        700        710        720 
YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF HEILEKSGRI FCTASLIGTK 

       730        740        750        760        770        780 
GDIPNFGTVE YWFRLRVPMD QAIRLYRERA KALGYITSNF KGPEHMQSLS QQAPKTAQLS 

       790        800        810        820        830        840 
STDSTDGNLN ELHITIRCCN HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD 

       850        860        870        880        890        900 
HMYFPVPMNM DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT 

       910        920        930        940        950        960 
DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA SSVSTLVLAP 

       970        980        990       1000       1010       1020 
RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP EVEHIPEIEI NMLTVPHVPK 

      1030       1040       1050       1060       1070       1080 
VSQEGSVDEV KENTEKMQQG KDDVSLLSEG QLAEQSLASS EDETEITEDL EPEVEEDMSA 

      1090       1100       1110       1120       1130       1140 
SDSDDCIIPG PISKNIKQSL ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC 

      1150       1160       1170       1180       1190       1200 
HHTQPSEKIR IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY 

      1210       1220       1230       1240       1250       1260 
YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL ECEDIGVAHV 

      1270       1280       1290       1300       1310 
DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH ALQSVYKQYR DDLEA 

« Hide

Isoform 2 [UniParc].

Checksum: F487798A39A0F038
Show »

FASTA1,235142,792

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Endometrial adenocarcinoma.
[2]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-351 (ISOFORMS 1/2).
Tissue: Testis.
[4]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 181-1315 (ISOFORM 2).
Tissue: Brain.
[5]"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome."
Delous M., Baala L., Salomon R., Laclef C., Vierkotten J., Tory K., Golzio C., Lacoste T., Besse L., Ozilou C., Moutkine I., Hellman N.E., Anselme I., Silbermann F., Vesque C., Gerhardt C., Rattenberry E., Wolf M.T.F. expand/collapse author list , Gubler M.C., Martinovic J., Encha-Razavi F., Boddaert N., Gonzales M., Macher M.A., Nivet H., Champion G., Bertheleme J.P., Niaudet P., McDonald F., Hildebrandt F., Johnson C.A., Vekemans M., Antignac C., Ruether U., Schneider-Maunoury S., Attie-Bitach T., Saunier S.
Nat. Genet. 39:875-881(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN MKS5, VARIANTS JBTS7 PRO-615 AND PRO-695, VARIANT ILE-677, CHARACTERIZATION OF VARIANTS JBTS7 PRO-615 AND PRO-695, CHARACTERIZATION OF VARIANT ILE-677.
[6]"Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome."
Arts H.H., Doherty D., van Beersum S.E.C., Parisi M.A., Letteboer S.J.F., Gorden N.T., Peters T.A., Maerker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P.M., Glass I.A., Knoers N.V.A.M., Roepman R.
Nat. Genet. 39:882-888(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NPHP4, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT JBTS7 PRO-615, CHARACTERIZATION OF VARIANT JBTS7 PRO-615.
[7]"A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity."
Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., Lindgren C.M., Perry J.R., Elliott K.S., Lango H., Rayner N.W., Shields B., Harries L.W., Barrett J.C., Ellard S., Groves C.J., Knight B., Patch A.M., Ness A.R. expand/collapse author list , Ebrahim S., Lawlor D.A., Ring S.M., Ben-Shlomo Y., Jarvelin M.-R., Sovio U., Bennett A.J., Melzer D., Ferrucci L., Loos R.J., Barroso I., Wareham N.J., Karpe F., Owen K.R., Cardon L.R., Walker M., Hitman G.A., Palmer C.N., Doney A.S., Morris A.D., Davey-Smith G., Hattersley A.T., McCarthy M.I.
Science 316:889-894(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[8]"A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies."
Khanna H., Davis E.E., Murga-Zamalloa C.A., Estrada-Cuzcano A., Lopez I., den Hollander A.I., Zonneveld M.N., Othman M.I., Waseem N., Chakarova C.F., Maubaret C., Diaz-Font A., MacDonald I., Muzny D.M., Wheeler D.A., Morgan M., Lewis L.R., Logan C.V. expand/collapse author list , Tan P.L., Beer M.A., Inglehearn C.F., Lewis R.A., Jacobson S.G., Bergmann C., Beales P.L., Attie-Bitach T., Johnson C.A., Otto E.A., Bhattacharya S.S., Hildebrandt F., Gibbs R.A., Koenekoop R.K., Swaroop A., Katsanis N.
Nat. Genet. 41:739-745(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH RPGR, VARIANTS GLY-199; THR-229; SER-447; PHE-546; ILE-647; ILE-677; LEU-937; SER-1025; GLY-1183; ASN-1264 AND TYR-1264, VARIANT MKS5 CYS-1236, CHARACTERIZATION OF VARIANT THR-229, ASSOCIATION OF VARIANT THR-229 WITH RETINAL DEGENERATION IN CILIOPATHIES.
[9]"Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor."
Tokue S., Sasaki M., Nakahata N.
Prostaglandins Other Lipid Mediat. 89:8-15(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH TBXA2R, TISSUE SPECIFICITY.
[10]"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. expand/collapse author list , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH NPHP4 AND IQCB1.
[11]"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum."
Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V., Muzny D.M., Young A.C., Wheeler D.A., Cruz P., Morgan M., Lewis L.R., Cherukuri P., Maskeri B. expand/collapse author list , Hansen N.F., Mullikin J.C., Blakesley R.W., Bouffard G.G., Gyapay G., Rieger S., Tonshoff B., Kern I., Soliman N.A., Neuhaus T.J., Swoboda K.J., Kayserili H., Gallagher T.E., Lewis R.A., Bergmann C., Otto E.A., Saunier S., Scambler P.J., Beales P.L., Gleeson J.G., Maher E.R., Attie-Bitach T., Dollfus H., Johnson C.A., Green E.D., Gibbs R.A., Hildebrandt F., Pierce E.A., Katsanis N.
Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT GLY-1183.
[12]"Solution structure of the first C2 domain from human KIAA1005 protein."
RIKEN structural genomics initiative (RSGI)
Submitted (OCT-2007) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 595-737.
[13]"Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)."
Doherty D., Parisi M.A., Finn L.S., Gunay-Aygun M., Al-Mateen M., Bates D., Clericuzio C., Demir H., Dorschner M., van Essen A.J., Gahl W.A., Gentile M., Gorden N.T., Hikida A., Knutzen D., Ozyurek H., Phelps I., Rosenthal P. expand/collapse author list , Verloes A., Weigand H., Chance P.F., Dobyns W.B., Glass I.A.
J. Med. Genet. 47:8-21(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT COACHS PRO-659.
[14]"Molecular characterization of Joubert syndrome in Saudi Arabia."
Alazami A.M., Alshammari M.J., Salih M.A., Alzahrani F., Hijazi H., Seidahmed M.Z., Abu Safieh L., Aldosary M., Khan A.O., Alkuraya F.S.
Hum. Mutat. 33:1423-1428(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS7 ARG-550.
+Additional computationally mapped references.

Web resources

RPGRIP1-like (RPGRIP1L)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CR749645 mRNA. Translation: CAH18439.1.
AC007497 Genomic DNA. No translation available.
AC007909 Genomic DNA. No translation available.
AC084795 Genomic DNA. No translation available.
BC017977 mRNA. Translation: AAH17977.1. Different termination.
AB023222 mRNA. Translation: BAA76849.1.
RefSeqNP_001121369.1. NM_001127897.1.
NP_056087.2. NM_015272.2.
UniGeneHs.298382.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YRBNMR-A595-737[»]
ProteinModelPortalQ68CZ1.
SMRQ68CZ1. Positions 595-737.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116911. 3 interactions.
IntActQ68CZ1. 1 interaction.
STRING9606.ENSP00000369257.

PTM databases

PhosphoSiteQ68CZ1.

Polymorphism databases

DMDM296434514.

Proteomic databases

PaxDbQ68CZ1.
PRIDEQ68CZ1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262135; ENSP00000262135; ENSG00000103494. [Q68CZ1-2]
ENST00000379925; ENSP00000369257; ENSG00000103494. [Q68CZ1-1]
GeneID23322.
KEGGhsa:23322.
UCSCuc002eho.4. human. [Q68CZ1-2]
uc002ehp.3. human. [Q68CZ1-1]

Organism-specific databases

CTD23322.
GeneCardsGC16M053633.
HGNCHGNC:29168. RPGRIP1L.
HPAHPA039405.
MIM216360. phenotype.
610937. gene.
611560. phenotype.
611561. phenotype.
neXtProtNX_Q68CZ1.
Orphanet1454. Joubert syndrome with hepatic defect.
220497. Joubert syndrome with renal defect.
564. Meckel syndrome.
PharmGKBPA162401983.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG117461.
HOGENOMHOG000168391.
HOVERGENHBG106574.
InParanoidQ68CZ1.
KOK16550.
OMADPQFDDH.
OrthoDBEOG77Q4VX.
PhylomeDBQ68CZ1.
TreeFamTF328883.

Gene expression databases

ArrayExpressQ68CZ1.
BgeeQ68CZ1.
CleanExHS_RPGRIP1L.
GenevestigatorQ68CZ1.

Family and domain databases

Gene3D2.60.40.150. 1 hit.
InterProIPR000008. C2_dom.
IPR021656. DUF3250.
[Graphical view]
PfamPF00168. C2. 1 hit.
PF11618. DUF3250. 1 hit.
[Graphical view]
SMARTSM00239. C2. 2 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 2 hits.
PROSITEPS50004. C2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRPGRIP1L. human.
EvolutionaryTraceQ68CZ1.
GenomeRNAi23322.
NextBio45220.
PROQ68CZ1.
SOURCESearch...

Entry information

Entry nameFTM_HUMAN
AccessionPrimary (citable) accession number: Q68CZ1
Secondary accession number(s): A0PJ88, Q9Y2K8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 12, 2007
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM