IF122_DANRE
ID IF122_DANRE Reviewed; 1187 AA.
AC Q6NYH1;
DT 05-OCT-2010, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Intraflagellar transport protein 122 homolog;
GN Name=ift122; ORFNames=zgc:77217;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=20493458; DOI=10.1016/j.ajhg.2010.04.012;
RA Walczak-Sztulpa J., Eggenschwiler J., Osborn D., Brown D.A., Emma F.,
RA Klingenberg C., Hennekam R.C., Torre G., Garshasbi M., Tzschach A.,
RA Szczepanska M., Krawczynski M., Zachwieja J., Zwolinska D., Beales P.L.,
RA Ropers H.H., Latos-Bielenska A., Kuss A.W.;
RT "Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused
RT by mutations in the IFT122 gene.";
RL Am. J. Hum. Genet. 86:949-956(2010).
CC -!- FUNCTION: Required for cilia formation during embryonal development.
CC Acts as a negative regulator of Shh signaling.
CC {ECO:0000269|PubMed:20493458}.
CC -!- SUBUNIT: Component of the IFT complex A (IFT-A) complex.
CC {ECO:0000250|UniProtKB:Q9HBG6}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q9HBG6}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250|UniProtKB:Q9HBG6}.
CC -!- DISRUPTION PHENOTYPE: Reduced number of cilia in embryonal pronephric
CC duct and shortened primary cilia in Kupffer's vesicle. Embryos show
CC shortened body axis and curvature, cardiac edema, small eyes,
CC pronephric cysts and a distended cranium; shh signaling is reduced.
CC {ECO:0000269|PubMed:20493458}.
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DR EMBL; BC066599; AAH66599.1; -; mRNA.
DR RefSeq; NP_998055.1; NM_212890.1.
DR AlphaFoldDB; Q6NYH1; -.
DR SMR; Q6NYH1; -.
DR PRIDE; Q6NYH1; -.
DR GeneID; 405826; -.
DR KEGG; dre:405826; -.
DR CTD; 55764; -.
DR ZFIN; ZDB-GENE-040426-2449; ift122.
DR InParanoid; Q6NYH1; -.
DR OrthoDB; 449704at2759; -.
DR PhylomeDB; Q6NYH1; -.
DR PRO; PR:Q6NYH1; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0030991; C:intraciliary transport particle A; ISS:UniProtKB.
DR GO; GO:0097730; C:non-motile cilium; IBA:GO_Central.
DR GO; GO:0048593; P:camera-type eye morphogenesis; IMP:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:GO_Central.
DR GO; GO:0007507; P:heart development; IMP:UniProtKB.
DR GO; GO:0035721; P:intraciliary retrograde transport; ISS:UniProtKB.
DR GO; GO:0042073; P:intraciliary transport; ISS:UniProtKB.
DR GO; GO:0032402; P:melanosome transport; IMP:ZFIN.
DR GO; GO:0001823; P:mesonephros development; IMP:GO_Central.
DR GO; GO:0045879; P:negative regulation of smoothened signaling pathway; ISS:UniProtKB.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR GO; GO:0036372; P:opsin transport; IMP:ZFIN.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:ZFIN.
DR GO; GO:0008594; P:photoreceptor cell morphogenesis; IMP:ZFIN.
DR GO; GO:0061512; P:protein localization to cilium; ISS:UniProtKB.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR039857; Ift122.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR12764; PTHR12764; 1.
DR Pfam; PF00400; WD40; 1.
DR SMART; SM00320; WD40; 8.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Developmental protein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1187
FT /note="Intraflagellar transport protein 122 homolog"
FT /id="PRO_0000398817"
FT REPEAT 16..54
FT /note="WD 1"
FT REPEAT 57..97
FT /note="WD 2"
FT REPEAT 99..135
FT /note="WD 3"
FT REPEAT 137..175
FT /note="WD 4"
FT REPEAT 180..223
FT /note="WD 5"
FT REPEAT 225..264
FT /note="WD 6"
FT REPEAT 266..306
FT /note="WD 7"
FT REPEAT 459..498
FT /note="WD 8"
FT REGION 1070..1094
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1187 AA; 135765 MW; 0AE4D0AC58B5E662 CRC64;
MRAVPTWIDK VHDRDKVEQC IYDLAFRPDG SQLIVAAGNR VLVYDTADGT LIQPLKGHKD
TVYCVAYAKD GKRFASGSAD KSIIIWTSKL EGILKYTHND SIQCVSYNPV THQLASCSSG
DFGLWSPEQK SVSKHKVSSK ITCCGWTNDG QYLALGMMNG VVSIRNKNGE EKVKIERPGG
SSSPVWSIAW NPSKDEHNDI LAVADWGQKL SFYQLSGKQI GKDRSLTFDP CCVSFFSKGE
YMVLCGSDRQ AALYTRDGVR LGSIAEQNAW VWTCRVKPDS NYVVVGCQDG TIAFFQLIFS
TVHGLYKDRY AYRDSMTDVI VQHLITEQKV RIKCRELVKK IAIYRSRLAI QLPEKILIYE
LLSDDSADMH YRVKEKICRR FECNLLVVCS QHIILCQEKR LQCLSFTALR QREWLMESLI
RYIKVIGGPA GREGLLVGLK NGAILKIFVD NPFPITLLKQ NTSVRCLDMS SNRSRLAVVD
EHNTCLVYDI HTRELLFQEP NANSVAWNTQ CEDMLCFSGG GFLNIKACSF PVHQQKLQGF
VVGYNGSRIF CLHVYSMAAV EVPQSAPMYQ YLERRMFQQA YNIACLGVTD SDWRDLATEA
LEGLDFHTAK KAFIRIRDLR YLELISSIEE RKKRGETDNQ LFLADVFAYQ GKFHEAAKLY
RRSGQDGRAL SMYTDLRMFD YAKDFLGSAD PKDTKLLMKK QADWAKNSRE PRAAAEMYLS
AGEHLKAIQI IGEHGWVDML IDVGRRLDKA ERAALSRCAV FLQQLQQHGY AAELYSKMGD
LRALLQLHVH ATHWDEAFSL VEKHPQFRDD VYVPYAQWLA EHDRFEEAQR AFHKAGRQAE
AVRVLEQLTH NAVVESRFSD ASYYYWMLSM QCLDIAREDS EQKQEMLKKF HSFQHLAELY
HVYHSVHRYM SEPFSSNMPE ILFNISRFLF HNLSTHTPMG ISKVDTLYAL AKQSKLLGAY
KVSRHAFEKL QSLKIPARYQ DSVELSSLTV RSKPYRDNED LIPMCYRCST NNPLLNNQGN
SCINCRQPFI FSASSYEVLP LVEFYLDQGI SDEEAVSLID LEVPRVEKNK SWQEMSSGES
QCLKLEDGPD DPEDDPFTAK LSFEQGGSVF VPVRVSRAVL RSMSRRDVLI KRWPAPLSWQ
YYRSLLPDVS ITMCPSCFQM FHSEDYELLV LQHSCCPFCR RPIDESC
