Q8CG73 (FTM_MOUSE) 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, Nphp8

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1264 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) By similarity. May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4. Does not seem to be strictly required for ciliogenesis. Ref.1 Ref.4 Ref.5
Subunit structure	Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8 By similarity. Interacts with TBXA2R (via C-terminus) By similarity. Interacts with IQCB1; the interaction likely requires additional interactors By similarity. Interacts with RPGR By similarity.
Subcellular location	Cytoplasm. Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › cilium axoneme. Cytoplasm › cytoskeleton › centrosome By similarity. Cell junction › tight junction By similarity. Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions By similarity.
Tissue specificity	Ubiquitously expressed. Not found in heart and skin. Ref.4
Developmental stage	Expression was detected throughout embryonic development as early as E8.5. Ref.4
Sequence similarities	Belongs to the RPGRIP1 family. Contains 2 C2 domains.

Ontologies

Keywords
Cellular component	Cell junction Cell projection Cilium Cytoplasm Cytoskeleton Tight junction
Domain	Coiled coil Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	camera-type eye development Inferred from mutant phenotype PubMed 17553904PubMed 17558409. Source: MGI cerebellum development Inferred from mutant phenotype PubMed 17558409. Source: MGI cilium assembly Inferred from mutant phenotype PubMed 17553904. Source: MGI corpus callosum development Inferred from mutant phenotype PubMed 17558409. Source: MGI determination of left/right symmetry Inferred from mutant phenotype PubMed 17553904. Source: MGI embryonic forelimb morphogenesis Inferred from mutant phenotype PubMed 17553904. Source: MGI embryonic hindlimb morphogenesis Inferred from mutant phenotype PubMed 17553904. Source: MGI establishment or maintenance of cell polarity Inferred from mutant phenotype PubMed 22832925. Source: MGI head development Inferred from mutant phenotype PubMed 17553904. Source: MGI in utero embryonic development Inferred from mutant phenotype PubMed 17553904. Source: MGI kidney development Inferred from mutant phenotype PubMed 17558409. Source: MGI lateral ventricle development Inferred from mutant phenotype PubMed 17558409. Source: MGI liver development Inferred from mutant phenotype PubMed 17558409. Source: MGI negative regulation of G-protein coupled receptor protein signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB neural tube patterning Inferred from mutant phenotype PubMed 17553904. Source: MGI nose development Inferred from mutant phenotype PubMed 17553904. Source: MGI olfactory bulb development Inferred from mutant phenotype PubMed 17558409. Source: MGI pericardium development Inferred from mutant phenotype PubMed 17553904. Source: MGI regulation of smoothened signaling pathway Inferred from mutant phenotype PubMed 17553904. Source: MGI
Cellular_component	cell-cell junction Inferred from sequence or structural similarity. Source: UniProtKB centrosome Inferred from sequence alignment PubMed 17558409. Source: MGI cilium axoneme Inferred from sequence alignment PubMed 17558409. Source: MGI microtubule basal body Inferred from direct assay PubMed 17553904. Source: MGI tight junction Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Iqcb1	Q8BP00	2	EBI-4281130,EBI-4282243
Nphp4	P59240	4	EBI-4281130,EBI-4281265

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1264	1264	Protein fantom		PRO_0000291268
Regions
	Domain	615 – 712	98	C2 1
	Domain	777 – 881	105	C2 2
	Coiled coil	64 – 143	80	Potential
	Coiled coil	196 – 268	73	Potential
	Coiled coil	299 – 454	156	Potential
	Coiled coil	488 – 555	68	Potential
Experimental info
	Sequence conflict	759	1	N → S in CAC87257. Ref.1
	Sequence conflict	797	1	K → R in CAC87257. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8CG73 [UniParc]. Last modified October 3, 2012. Version 2. Checksum: AA1A5A7F9AC2AD1E	FASTA	1,264	145,000
	10 20 30 40 50 60 MSGPSDETAG DLPVKDTGLN LFGVGGLQET STARTVKTRQ AVSRVSREEL EDRFLRLHDE 70 80 90 100 110 120 NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK RLGRDVEMEE MIEQLQEKVH 130 140 150 160 170 180 ELERQNEVLK NRLISAKQQL QVQGHRQTSY SRVQARVNTG RRRASASAGS QECPGKGLRF 190 200 210 220 230 240 QNVDEAETVQ PTLTKYSNSL LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLKRKE 250 260 270 280 290 300 NEIELSLLQL REQQATDQRS NIRDNVETIK LHKQLVEKSN ALSVIEGKFI QLQEKQRTLR 310 320 330 340 350 360 ISHDALMANG DELNKQLKEQ RLKCCSLEKQ LHSVRFSERR VEELQDRIND LEKERELLKE 370 380 390 400 410 420 NYDKLYNSAF SAAHEEQWKL KEQQMKVQIA QLETALKSDL TDKTEVLDKL KTERDQNEKL 430 440 450 460 470 480 VQENRDLQLQ CLQQKQRLHE LQSRLKFFNQ ESDINADDLS EALLLIKAQK EQKNGDLSFL 490 500 510 520 530 540 EKVDSKINKD LDRSMKELQA THAETVQELE KTRNMLIMQH KINKDYQMEV ETVTQKMENL 550 560 570 580 590 600 QQDYELKVEQ YVHLLDIRAA RIQKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL 610 620 630 640 650 660 ERGENLFEIH INKVTFSSEV LRASGDKELV TFCTYAFYDF ELQTTPIVRG LYPEYNFTSQ 670 680 690 700 710 720 YLVHVNDLFL QYIQKNTVTL ELHQAHSTDY ETIAACQLRF HEILEKSGRI FCTTSLVGTK 730 740 750 760 770 780 GDIPNFGTVE YWFRLRVPMD QAIRLYRERA KALGYITSNF KKPEKMQLSS QQAATTAQIS 790 800 810 820 830 840 PAESTDGNLN ELHVTVKCCT GLQSRASYLQ PHAYVVYKFF DFPDHDTAIV PSSNDPQFDD 850 860 870 880 890 900 HMCFPVPMNM DLDRYLKSES LSFYVFDDSD TQENIYMGKV NVPLISLAHD KCISGIFELM 910 920 930 940 950 960 DKEKHAAGTI QVILKWKFTY LPPSGSITTE DLGKFVCREE PEAVQRLPPK SSDVTSVVAP 970 980 990 1000 1010 1020 KPKPRQRLTF VDKKVSFADT ISHPSPETSP PPKDIKDSSP EVGPKPENGL SAVAYPSKES 1030 1040 1050 1060 1070 1080 GVAKVEENVG EMQQGKEDDI SFLSEGQLAS GSVASSEDET EITEELEPED EDRSASDSDD 1090 1100 1110 1120 1130 1140 CIIPSSVSTN TKQPSEEIRI EIIALNLNDS QITREDTIQR LFIECRFYSL PAEETPMSLP 1150 1160 1170 1180 1190 1200 KPQSGQWVYY NYSNVIYLDK ENNPAVRDIL KAILQRRELP HRSVRFTVVS DPPEDEQDLE 1210 1220 1230 1240 1250 1260 CEDIGVAHVD LADLFQKGRD IIEQDIDVLD ARTDGGTIGK LKVTVEALHA LRSVYEQNRK DLEA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster." Peters T., Ausmeier K., Dildrop R., Ruether U. Mamm. Genome 13:186-188(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION. Strain: Swiss Webster / NIH.
[2]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[3]	Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation." Peters T., Ausmeier K., Ruether U. Mamm. Genome 10:983-986(1999) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[5]	"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: FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ344253 mRNA. Translation: CAC87257.1. AC139351 Genomic DNA. No translation available. CH466525 Genomic DNA. Translation: EDL11076.1.
IPI	IPI00229430.
RefSeq	NP_775607.2. NM_173431.2.
UniGene	Mm.324592.
3D structure databases
ProteinModelPortal	Q8CG73.
SMR	Q8CG73. Positions 595-737.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8CG73. 280 interactions.
STRING	10090.ENSMUSP00000042702.
PTM databases
PhosphoSite	Q8CG73.
Proteomic databases
PRIDE	Q8CG73.
Protocols and materials databases
DNASU	244585.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000047783; ENSMUSP00000042702; ENSMUSG00000033282.
GeneID	244585.
KEGG	mmu:244585.
UCSC	uc009msp.1. mouse.
Organism-specific databases
CTD	23322.
MGI	MGI:1920563. Rpgrip1l.
Phylogenomic databases
eggNOG	NOG117461.
GeneTree	ENSGT00520000055620.
HOGENOM	HOG000168391.
HOVERGEN	HBG106574.
InParanoid	Q8CG73.
KO	K16550.
OMA	VEMEEMI.
OrthoDB	EOG45HRWH.
Gene expression databases
CleanEx	MM_RPGRIP1L.
Genevestigator	Q8CG73.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR021656. DUF3250. [Graphical view]
Pfam	PF00168. C2. 1 hit. PF11618. DUF3250. 1 hit. [Graphical view]
SMART	SM00239. C2. 1 hit. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 1 hit.
PROSITE	PS50004. C2. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	386327.
SOURCE	Search...

Entry information

Entry name

FTM_MOUSE

Accession

Primary (citable) accession number: Q8CG73
Secondary accession number(s): G3X958

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 12, 2007
Last sequence update:	October 3, 2012
Last modified:	May 1, 2013
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program