IFT46_HUMAN
ID IFT46_HUMAN Reviewed; 304 AA.
AC Q9NQC8; A8K0F6; Q9H6V5;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Intraflagellar transport protein 46 homolog;
GN Name=IFT46; Synonyms=C11orf2, C11orf60;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10873569; DOI=10.1006/bbrc.2000.2910;
RA O'Brien K.P., Tapia-Paez I., Staahle-Baeckdahl M., Kedra D., Dumanski J.P.;
RT "Characterization of five novel human genes in the 11q13-q22 region.";
RL Biochem. Biophys. Res. Commun. 273:90-94(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Uterus;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP TYR-9.
RC TISSUE=Cerebellum, and Hepatoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow, Lung, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP INTERACTION WITH ARL13B.
RX PubMed=24339792; DOI=10.1371/journal.pgen.1003977;
RA Cevik S., Sanders A.A., Van Wijk E., Boldt K., Clarke L., van Reeuwijk J.,
RA Hori Y., Horn N., Hetterschijt L., Wdowicz A., Mullins A., Kida K.,
RA Kaplan O.I., van Beersum S.E., Man Wu K., Letteboer S.J., Mans D.A.,
RA Katada T., Kontani K., Ueffing M., Roepman R., Kremer H., Blacque O.E.;
RT "Active transport and diffusion barriers restrict Joubert syndrome-
RT associated ARL13B/ARL-13 to an inv-like ciliary membrane subdomain.";
RL PLoS Genet. 9:E1003977-E1003977(2013).
RN [8]
RP INTERACTION WITH TTC25.
RX PubMed=25860617; DOI=10.1371/journal.pone.0124378;
RA Xu Y., Cao J., Huang S., Feng D., Zhang W., Zhu X., Yan X.;
RT "Characterization of tetratricopeptide repeat-containing proteins critical
RT for cilia formation and function.";
RL PLoS ONE 10:E0124378-E0124378(2015).
CC -!- FUNCTION: Forms part of a complex involved in intraflagellar transport
CC (IFT), the bi-directional movement of particles required for the
CC assembly, maintenance and functioning of primary cilia. May play a role
CC in chondrocyte maturation and skeletogenesis (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Component of the IFT complex B, at least composed of IFT20,
CC IFT22, IFT25/HSPB11, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74,
CC IFT80, IFT81, and IFT88. Interacts with IFT57, IFT88 and DAW1.
CC Interacts with TTC26/IFT56 (By similarity). Interacts with ARL13B.
CC Interacts with TTC25 (PubMed:25860617). Interacts with TTC30B (By
CC similarity). {ECO:0000250|UniProtKB:Q9DB07,
CC ECO:0000269|PubMed:24339792, ECO:0000269|PubMed:25860617}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Note=Expression
CC is concentrated at the cilium basal body but is also detected along the
CC length of the cilium. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NQC8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NQC8-2; Sequence=VSP_039859;
CC -!- SIMILARITY: Belongs to the IFT46 family. {ECO:0000305}.
CC -!- CAUTION: Has been termed C11orf2, but is not the official C11orf2 as
CC defined by HGNC. {ECO:0000305|PubMed:10873569}.
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DR EMBL; AJ249980; CAB96537.1; -; mRNA.
DR EMBL; AL136934; CAB66868.1; -; mRNA.
DR EMBL; AK025480; BAB15146.1; -; mRNA.
DR EMBL; AK289521; BAF82210.1; -; mRNA.
DR EMBL; CR457344; CAG33625.1; -; mRNA.
DR EMBL; AP000941; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011647; AAH11647.1; -; mRNA.
DR EMBL; BC012802; AAH12802.1; -; mRNA.
DR EMBL; BC022856; AAH22856.1; -; mRNA.
DR CCDS; CCDS53718.1; -. [Q9NQC8-1]
DR CCDS; CCDS8399.1; -. [Q9NQC8-2]
DR RefSeq; NP_001162089.1; NM_001168618.1. [Q9NQC8-1]
DR RefSeq; NP_064538.3; NM_020153.3. [Q9NQC8-2]
DR RefSeq; XP_011541208.1; XM_011542906.2. [Q9NQC8-1]
DR RefSeq; XP_016873507.1; XM_017018018.1. [Q9NQC8-1]
DR AlphaFoldDB; Q9NQC8; -.
DR SMR; Q9NQC8; -.
DR BioGRID; 121240; 39.
DR ComplexPortal; CPX-5022; IFT-B complex.
DR CORUM; Q9NQC8; -.
DR IntAct; Q9NQC8; 23.
DR iPTMnet; Q9NQC8; -.
DR PhosphoSitePlus; Q9NQC8; -.
DR BioMuta; IFT46; -.
DR DMDM; 74734313; -.
DR EPD; Q9NQC8; -.
DR jPOST; Q9NQC8; -.
DR MassIVE; Q9NQC8; -.
DR MaxQB; Q9NQC8; -.
DR PeptideAtlas; Q9NQC8; -.
DR PRIDE; Q9NQC8; -.
DR ProteomicsDB; 82141; -. [Q9NQC8-1]
DR ProteomicsDB; 82142; -. [Q9NQC8-2]
DR Antibodypedia; 52642; 51 antibodies from 11 providers.
DR DNASU; 56912; -.
DR Ensembl; ENST00000264020.6; ENSP00000264020.2; ENSG00000118096.10. [Q9NQC8-2]
DR Ensembl; ENST00000264021.8; ENSP00000264021.3; ENSG00000118096.10. [Q9NQC8-1]
DR GeneID; 56912; -.
DR KEGG; hsa:56912; -.
DR MANE-Select; ENST00000264021.8; ENSP00000264021.3; NM_001168618.2; NP_001162089.1.
DR UCSC; uc001pto.3; human. [Q9NQC8-1]
DR CTD; 56912; -.
DR DisGeNET; 56912; -.
DR GeneCards; IFT46; -.
DR HGNC; HGNC:26146; IFT46.
DR HPA; ENSG00000118096; Low tissue specificity.
DR neXtProt; NX_Q9NQC8; -.
DR OpenTargets; ENSG00000118096; -.
DR PharmGKB; PA165543409; -.
DR VEuPathDB; HostDB:ENSG00000118096; -.
DR GeneTree; ENSGT00390000005544; -.
DR HOGENOM; CLU_039364_1_0_1; -.
DR InParanoid; Q9NQC8; -.
DR PhylomeDB; Q9NQC8; -.
DR TreeFam; TF314221; -.
DR PathwayCommons; Q9NQC8; -.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q9NQC8; -.
DR BioGRID-ORCS; 56912; 8 hits in 1078 CRISPR screens.
DR ChiTaRS; IFT46; human.
DR GeneWiki; C11orf60; -.
DR GenomeRNAi; 56912; -.
DR Pharos; Q9NQC8; Tdark.
DR PRO; PR:Q9NQC8; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NQC8; protein.
DR Bgee; ENSG00000118096; Expressed in right uterine tube and 195 other tissues.
DR ExpressionAtlas; Q9NQC8; baseline and differential.
DR Genevisible; Q9NQC8; HS.
DR GO; GO:0005813; C:centrosome; IBA:GO_Central.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; TAS:Reactome.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0030992; C:intraciliary transport particle B; IPI:ComplexPortal.
DR GO; GO:0031514; C:motile cilium; ISS:BHF-UCL.
DR GO; GO:0008022; F:protein C-terminus binding; ISS:BHF-UCL.
DR GO; GO:0060271; P:cilium assembly; ISS:BHF-UCL.
DR GO; GO:0035720; P:intraciliary anterograde transport; IC:ComplexPortal.
DR GO; GO:0042073; P:intraciliary transport; ISS:BHF-UCL.
DR GO; GO:0050821; P:protein stabilization; ISS:BHF-UCL.
DR InterPro; IPR022088; Intraflagellar_transp_cmplxB.
DR PANTHER; PTHR13376; PTHR13376; 1.
DR Pfam; PF12317; IFT46_B_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..304
FT /note="Intraflagellar transport protein 46 homolog"
FT /id="PRO_0000085516"
FT REGION 1..68
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 285..304
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 8..22
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 31..58
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 286
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9DB07"
FT VAR_SEQ 15
FT /note="K -> KVLREGMPQAPGHRGKDMDPVPPAPASLKCHQTPSHVLERVGWYRES
FT QKHRK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039859"
FT VARIANT 9
FT /note="C -> Y (in dbSNP:rs11552421)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_057533"
FT CONFLICT 14
FT /note="N -> S (in Ref. 3; BAB15146)"
FT /evidence="ECO:0000305"
FT CONFLICT 19
FT /note="K -> E (in Ref. 3; BAB15146)"
FT /evidence="ECO:0000305"
FT CONFLICT 37
FT /note="D -> G (in Ref. 3; BAF82210)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 304 AA; 34286 MW; 5685A790EDAA3952 CRC64;
MADNSSDECE EENNKEKKKT SQLTPQRGFS ENEDDDDDDD DSSETDSDSD DDDEEHGAPL
EGAYDPADYE HLPVSAEIKE LFQYISRYTP QLIDLDHKLK PFIPDFIPAV GDIDAFLKVP
RPDGKPDNLG LLVLDEPSTK QSDPTVLSLW LTENSKQHNI TQHMKVKSLE DAEKNPKAID
TWIESISELH RSKPPATVHY TRPMPDIDTL MQEWSPEFEE LLGKVSLPTA EIDCSLAEYI
DMICAILDIP VYKSRIQSLH LLFSLYSEFK NSQHFKALAE GKKAFTPSSN STSQAGDMET
LTFS
