Q68CZ1 (FTM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1315 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › cilium axoneme. Cytoplasm › cytoskeleton › centrosome. Cell junction › tight 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 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 component	Cell junction Cell projection Cilium Cytoplasm Cytoskeleton Tight junction
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Joubert syndrome Meckel syndrome
Domain	Coiled coil Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	camera-type eye development Inferred from electronic annotation. Source: Compara cerebellum development Inferred from electronic annotation. Source: Compara cilium assembly Inferred from electronic annotation. Source: Compara corpus callosum development Inferred from electronic annotation. Source: Compara determination of left/right symmetry Inferred from electronic annotation. Source: Compara embryonic forelimb morphogenesis Inferred from electronic annotation. Source: Compara embryonic hindlimb morphogenesis Inferred from electronic annotation. Source: Compara head development Inferred from electronic annotation. Source: Compara in utero embryonic development Inferred from electronic annotation. Source: Compara kidney development Inferred from electronic annotation. Source: Compara lateral ventricle development Inferred from electronic annotation. Source: Compara liver development Inferred from electronic annotation. Source: Compara 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: Compara nose development Inferred from electronic annotation. Source: Compara olfactory bulb development Inferred from electronic annotation. Source: Compara pericardium development Inferred from electronic annotation. Source: Compara regulation of smoothened signaling pathway Inferred from electronic annotation. Source: Compara
Cellular_component	cell-cell junction Inferred from direct assay Ref.10. Source: UniProtKB centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cilium axoneme Inferred from direct assay Ref.5. Source: MGI microtubule basal body Inferred from direct assay Ref.5. Source: MGI tight junction Inferred from electronic annotation. Source: UniProtKB-SubCell
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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1315

1315

Protein fantom

PRO_0000291267

Regions

Domain

615 – 712

98

C2 1

Domain

777 – 881

105

C2 2

Coiled coil

64 – 144

81

Potential

Coiled coil

197 – 256

60

Potential

Coiled coil

326 – 555

230

Potential

Natural variations

Alternative sequence

987 – 1020

34

Missing in isoform 2.

VSP_026161

Alternative sequence

1099 – 1144

46

Missing in isoform 2.

VSP_026162

Natural variant

199

1

S → G Found in a patient with Leber congenital amaurosis. Ref.8

VAR_066476

Natural variant

229

1

A → 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 variant

447

1

L → S. Ref.8
Corresponds to variant rs138155747 [ dbSNP | Ensembl ].

VAR_066478

Natural variant

546

1

L → F in a patient with Leber congenital amaurosis. Ref.8
Corresponds to variant rs147331527 [ dbSNP | Ensembl ].

VAR_066479

Natural variant

550

1

Q → R in JBTS7.

VAR_069234

Natural variant

615

1

T → P in JBTS7; affects interaction with NPHP4. Ref.5 Ref.6
Corresponds to variant rs121918198 [ dbSNP | Ensembl ].

VAR_039393

Natural variant

647

1

V → I. Ref.8
Corresponds to variant rs145572901 [ dbSNP | Ensembl ].

VAR_066480

Natural variant

659

1

S → P in COACHS. Ref.13

VAR_063805

Natural variant

677

1

T → 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 variant

695

1

A → P in JBTS7; seems not to affect interaction with NPHP4. Ref.5
Corresponds to variant rs121918200 [ dbSNP | Ensembl ].

VAR_039395

Natural variant

744

1

R → Q.
Corresponds to variant rs2302677 [ dbSNP | Ensembl ].

VAR_039396

Natural variant

937

1

R → L in a patient with Leber congenital amaurosis. Ref.8

VAR_066481

Natural variant

1025

1

G → S. Ref.8
Corresponds to variant rs2111119 [ dbSNP | Ensembl ].

VAR_039397

Natural variant

1183

1

A → 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 variant

1236

1

R → C in MKS5. Ref.8
Corresponds to variant rs151332923 [ dbSNP | Ensembl ].

VAR_066482

Natural variant

1264

1

D → N. Ref.8
Corresponds to variant rs3213758 [ dbSNP | Ensembl ].

VAR_039398

Natural variant

1264

1

D → Y in patients with Leber congenital amaurosis. Ref.8

VAR_066483

Experimental info

Sequence conflict

300

1

R → K in BAA76849. Ref.4

Sequence conflict

575

1

G → D in CAH18439. Ref.1

Sequence conflict

595

1

D → G in CAH18439. Ref.1

Sequence conflict

992

1

P → L in CAH18439. Ref.1

Sequence conflict

1143

1

T → S in CAH18439. Ref.1

Secondary structure

1

.

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1315

Helix Strand Turn

Details...

Beta strand

605 – 614

10

Helix

618 – 623

6

Beta strand

630 – 635

6

Beta strand

648 – 652

5

Beta strand

657 – 663

7

Helix

667 – 675

9

Beta strand

678 – 685

8

Beta strand

690 – 698

9

Helix

702 – 705

4

Beta strand

710 – 716

7

Beta strand

718 – 721

4

Beta strand

726 – 737

12

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 694B83C6A109E50A	FASTA	1,315	151,201
	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
	Isoform 2 [UniParc]. Checksum: F487798A39A0F038	FASTA	1,235	142,792
	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 MPHQSDVSQE GSVDEVKENT EKMQQGKDDV SLLSEGQLAE 1030 1040 1050 1060 1070 1080 QSLASSEDET EITEDLEPEV EEDMSASDSD DCIIPGPISK NIKQPSEKIR IEIIALSLND 1090 1100 1110 1120 1130 1140 SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY YNYSNVIYVD KENNKAKRDI 1150 1160 1170 1180 1190 1200 LKAILQKQEM PNRSLRFTVV SDPPEDEQDL ECEDIGVAHV DLADMFQEGR DLIEQNIDVF 1210 1220 1230 DARADGEGIG KLRVTVEALH ALQSVYKQYR DDLEA

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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. , 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. , 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.

IPI

IPI00470867.
IPI00640671.

RefSeq

NP_001121369.1. NM_001127897.1.
NP_056087.2. NM_015272.2.

UniGene

Hs.298382.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2YRB	NMR	-	A	595-737	[»]

ProteinModelPortal

Q68CZ1.

SMR

Q68CZ1. Positions 595-737.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q68CZ1. 1 interaction.

STRING

9606.ENSP00000369257.

PTM databases

PhosphoSite

Q68CZ1.

Polymorphism databases

DMDM

296434514.

Proteomic databases

PaxDb

Q68CZ1.

PRIDE

Q68CZ1.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000262135; ENSP00000262135; ENSG00000103494.
ENST00000379925; ENSP00000369257; ENSG00000103494.

GeneID

23322.

KEGG

hsa:23322.

UCSC

uc002eho.4. human.
uc002ehp.3. human.

Organism-specific databases

CTD

23322.

GeneCards

GC16M053633.

HGNC

HGNC:29168. RPGRIP1L.

HPA

HPA039405.

MIM

216360. phenotype.
610937. gene.
611560. phenotype.
611561. phenotype.

neXtProt

NX_Q68CZ1.

Orphanet

1454. Joubert syndrome with hepatic defect.
220497. Joubert syndrome with renal defect.
564. Meckel syndrome.

PharmGKB

PA162401983.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG117461.

HOGENOM

HOG000168391.

HOVERGEN

HBG106574.

InParanoid

Q68CZ1.

KO

K16550.

OMA

VEMEEMI.

Gene expression databases

ArrayExpress

Q68CZ1.

Bgee

Q68CZ1.

CleanEx

HS_RPGRIP1L.

Genevestigator

Q68CZ1.

Family and domain databases

InterPro

IPR000008. C2_Ca-dep.
IPR008973. C2_Ca/lipid-bd_dom_CaLB.
IPR018029. C2_membr_targeting.
IPR021656. DUF3250.
[Graphical view]

Pfam

PF00168. C2. 1 hit.
PF11618. DUF3250. 1 hit.
[Graphical view]

SMART

SM00239. C2. 2 hits.
[Graphical view]

SUPFAM

SSF49562. C2_CaLB. 1 hit.

PROSITE

PS50004. C2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

RPGRIP1L. human.

EvolutionaryTrace

Q68CZ1.

GenomeRNAi

23322.

NextBio

45220.

SOURCE

Search...

Entry information

Entry name

FTM_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 82 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.