FTM_CAEEL
ID FTM_CAEEL Reviewed; 1322 AA.
AC Q09459; B6VQ42; B6VQ43; Q09513;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2012, sequence version 4.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Protein fantom;
DE AltName: Full=Meckel syndrome protein homolog;
DE Flags: Precursor;
GN Name=mks-5; Synonyms=ftm, nphp-8; ORFNames=C09G5.8;
OS Caenorhabditis elegans.
OC Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
OC Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae;
OC Caenorhabditis.
OX NCBI_TaxID=6239;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), FUNCTION, TISSUE SPECIFICITY,
RP DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
RX PubMed=21689635; DOI=10.1016/j.bbrc.2011.06.041;
RA Liu L., Zhang M., Xia Z., Xu P., Chen L., Xu T.;
RT "Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human
RT RPGRIP1L, is required for ciliogenesis and chemosensation.";
RL Biochem. Biophys. Res. Commun. 410:626-631(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND ALTERNATIVE SPLICING.
RC STRAIN=Bristol N2;
RX PubMed=9851916; DOI=10.1126/science.282.5396.2012;
RG The C. elegans sequencing consortium;
RT "Genome sequence of the nematode C. elegans: a platform for investigating
RT biology.";
RL Science 282:2012-2018(1998).
RN [3]
RP FUNCTION, TISSUE SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=21422230; DOI=10.1083/jcb.201012116;
RA Williams C.L., Li C., Kida K., Inglis P.N., Mohan S., Semenec L.,
RA Bialas N.J., Stupay R.M., Chen N., Blacque O.E., Yoder B.K., Leroux M.R.;
RT "MKS and NPHP modules cooperate to establish basal body/transition zone
RT membrane associations and ciliary gate function during ciliogenesis.";
RL J. Cell Biol. 192:1023-1041(2011).
CC -!- FUNCTION: Thought to have an important role in cilia formation and
CC cilia-mediated chemosensation. Involved in the docking of other
CC MKS/MKSR proteins localized to the transition zone of the cilia.
CC {ECO:0000269|PubMed:21422230, ECO:0000269|PubMed:21689635}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:21689635}. Note=Localizes to the transition zone.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=a;
CC IsoId=Q09459-1; Sequence=Displayed;
CC Name=b;
CC IsoId=Q09459-2; Sequence=VSP_038153;
CC -!- TISSUE SPECIFICITY: Expressed at the transition zone at the base of
CC cilia. Expressed in ciliated sensory neurons, including the amphid
CC neurons in the head. {ECO:0000269|PubMed:21422230,
CC ECO:0000269|PubMed:21689635}.
CC -!- DISRUPTION PHENOTYPE: Defective cilia sensory function. Abnormal dye
CC filling (Dyf) in the ASI neuron and chemotaxis behavior. Shorter cilia
CC lengths in a subset of ciliary neurons. Aberrant localization of other
CC cilia-expressed proteins. {ECO:0000269|PubMed:21422230,
CC ECO:0000269|PubMed:21689635}.
CC -!- MISCELLANEOUS: An X-box element in the predicted promoter region was
CC identified consistent with other cilia-related genes.
CC -!- SIMILARITY: Belongs to the RPGRIP1 family. {ECO:0000305}.
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DR EMBL; Z46791; CAR97804.2; -; Genomic_DNA.
DR EMBL; Z46792; CAR97804.2; JOINED; Genomic_DNA.
DR EMBL; Z46791; CAR97805.1; -; Genomic_DNA.
DR EMBL; Z46792; CAR97805.1; JOINED; Genomic_DNA.
DR PIR; T19148; T19148.
DR PIR; T20144; T20144.
DR RefSeq; NP_001254260.1; NM_001267331.1. [Q09459-1]
DR RefSeq; NP_001254261.1; NM_001267332.1. [Q09459-2]
DR AlphaFoldDB; Q09459; -.
DR SMR; Q09459; -.
DR BioGRID; 39968; 1.
DR STRING; 6239.C09G5.8a; -.
DR EPD; Q09459; -.
DR PaxDb; Q09459; -.
DR PRIDE; Q09459; -.
DR EnsemblMetazoa; C09G5.8a.1; C09G5.8a.1; WBGene00007490. [Q09459-1]
DR EnsemblMetazoa; C09G5.8b.1; C09G5.8b.1; WBGene00007490. [Q09459-2]
DR GeneID; 174654; -.
DR KEGG; cel:CELE_C09G5.8; -.
DR UCSC; C09G5.8; c. elegans. [Q09459-1]
DR CTD; 174654; -.
DR WormBase; C09G5.8a; CE46403; WBGene00007490; mks-5. [Q09459-1]
DR WormBase; C09G5.8b; CE43165; WBGene00007490; mks-5. [Q09459-2]
DR eggNOG; ENOG502QSQG; Eukaryota.
DR GeneTree; ENSGT00520000055620; -.
DR HOGENOM; CLU_259778_0_0_1; -.
DR InParanoid; Q09459; -.
DR OMA; MKFFNQE; -.
DR OrthoDB; 338664at2759; -.
DR PRO; PR:Q09459; -.
DR Proteomes; UP000001940; Chromosome II.
DR Bgee; WBGene00007490; Expressed in pharyngeal muscle cell (C elegans) and 3 other tissues.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0035869; C:ciliary transition zone; IDA:UniProtKB.
DR GO; GO:0006935; P:chemotaxis; IMP:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:WormBase.
DR GO; GO:1904491; P:protein localization to ciliary transition zone; IMP:WormBase.
DR GO; GO:0022615; P:protein to membrane docking; IMP:UniProtKB.
DR GO; GO:0097500; P:receptor localization to non-motile cilium; IMP:WormBase.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR021656; C2-C2_1.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR031139; RPGRIP1_fam.
DR PANTHER; PTHR14240; PTHR14240; 1.
DR Pfam; PF11618; C2-C2_1; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Reference proteome; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..1322
FT /note="Protein fantom"
FT /id="PRO_0000065173"
FT REGION 108..151
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 189..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 392..418
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 891..1094
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1121..1149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 15..89
FT /evidence="ECO:0000255"
FT COILED 274..362
FT /evidence="ECO:0000255"
FT COILED 456..538
FT /evidence="ECO:0000255"
FT COMPBIAS 108..132
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 189..218
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 232..247
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 913..944
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 961..976
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1011..1025
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1026..1040
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1046..1063
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1064..1079
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1127..1141
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..230
FT /note="Missing (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_038153"
SQ SEQUENCE 1322 AA; 150456 MW; 7E2F91FA85305EE7 CRC64;
MVSARYPIEK WSRPQLEDHF HNVVEELNKA QKKVKEQEKQ ITTFNSRFRR SMLERKSQNE
KVVERSKYDD VVKENQILDM KLKAAKQQLL IYTAPSARAT TASMMTGRST FRQPPSTFRQ
RPPLTAGTTG SIDRPGSAPV ARKKSDGGEK LQLATDEKLA IVRLNRTLKN KNDEITELKY
TIEKLRQLKS SVNQSSPPTR LSTSSSSKSS SSNNNNDGEG KDSELEEMSE MSDDESGRST
PVIEEKKKPR RKSRKSSHQE PSKNPIPPPR IPDQTEKVLL DKLKVAENDL AMLQEECDLV
KKANERLVHQ SLSKSTEYGA RESIEEKKKI VELEELLKET EKRIKESEHR RREDQKKFEA
MRLHYKNKYD AAKKTEKKLS VVAKNSKVEE ERIEEEKISH SPPPMTFEPI RKRHSQSEIS
RMRRADDDLL QKLYKEVADI LHSHDVGIAE INTLGASENS LARWQKLYSE LYEELEKVRN
MLLIQYDINQ KQMKEIKLLK DELDRLKTVS AEILSKSREE VEERQKKIFM LEEQIRTIAY
SGQQPVKLLA NQINIPTPRV NTDLSVKLIN VKPSPSLTSK FFFSLEFFDF QLETTPIMDA
KQHNMDFTTV YDVLVSNLLI HYLQTNGIVI EMYRPASDCY KLLAAATISL IPLFEDSVLR
KFCSEIMLKS VDTGVEMCTL RYEIEVSQPI SDSFKKFKKS EMARNMLPLQ LENEDTEDTN
FDPLTIMVNR VVGLDTFGKD PSTEFCIVDE FLSFSPYFTD FSTSSEIRSK RDCYIPKIDI
ARNLFATSSI SFFLIENIPR QDGVIATLHL PLHPLCKLGG SIKGTFPMLD TDGRPSSVSL
DLCLIWKHEI PSFFLKHEPK EPLKEVKDTP ILPQPVRRTS KEFVVTPVKE AELHDAEPTS
MPPKAPEPTT APLRRLSTDS SDTSFSHSSK DLFSPPTNPQ TYDYEIPAVT PALVDSDGEE
EADRIVFDDD DDEIESVSAV SSQRDPEPLE VPERQVENLP SPEDTPRPSD PLKPNGTNES
KESTPVTQRS VDKTDDVAPV DPELEPESGP EPEPVVESEP NEVAETEEDR KRELKTEELK
SLLGALPPIA KPRNIPVGPI ALTEQPEATR QQGSTGRILF TDPLHFSVPP SESSSTSSPR
RAEKAPVPLP DYEGHSLIKV RKPLSPTDKD VLEPNMKVSI QLETFELVPG SSLTPLTREE
TTFFVDWVFL DFTNEQSKST IFDFPRRPQE MVDIRYTKEY TLTRGQLSLL DQWIRASIKF
ELTIIKISPG DEEELGFGSL ILVPNNTQNK SFVIDVYDRS GIVQAEMTLT LHFSRALIEQ
LT
