IF122_HUMAN
ID IF122_HUMAN Reviewed; 1241 AA.
AC Q9HBG6; B3KW53; B4DEY9; B4DPW7; E7EQF4; E9PDG2; E9PDX2; G3XAB1; H7C3C0;
AC Q53G36; Q8TC06; Q9BTB9; Q9BTY4; Q9HAT9; Q9HBG5; Q9NV68; Q9UF80;
DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Intraflagellar transport protein 122 homolog {ECO:0000305};
DE AltName: Full=WD repeat-containing protein 10;
DE AltName: Full=WD repeat-containing protein 140;
GN Name=IFT122 {ECO:0000312|HGNC:HGNC:13556}; Synonyms=SPG, WDR10, WDR140;
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 5), AND TISSUE SPECIFICITY.
RX PubMed=11242542; DOI=10.1089/10445490150504684;
RA Gross C., De Baere E., Lo A., Chang W., Messiaen L.;
RT "Cloning and characterization of human WDR10, a novel gene located at 3q21
RT encoding a WD-repeat protein that is highly expressed in pituitary and
RT testis.";
RL DNA Cell Biol. 20:41-52(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Shan Y.X., Li J.M., Sha J.H.;
RT "The research of spermatogenesis related genes.";
RL Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 9; 10 AND 11).
RC TISSUE=Cerebellum;
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 8).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Lung, and Testis;
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 [8]
RP IDENTIFICATION IN THE IFT-A COMPLEX.
RX PubMed=20889716; DOI=10.1101/gad.1966210;
RA Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J.,
RA Jackson P.K.;
RT "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote
RT trafficking of G protein-coupled receptors into primary cilia.";
RL Genes Dev. 24:2180-2193(2010).
RN [9]
RP IDENTIFICATION IN THE IFT-A COMPLEX, AND FUNCTION.
RX PubMed=27932497; DOI=10.1091/mbc.e16-11-0813;
RA Hirano T., Katoh Y., Nakayama K.;
RT "Intraflagellar transport-A complex mediates ciliary entry and retrograde
RT trafficking of ciliary G protein-coupled receptors.";
RL Mol. Biol. Cell 28:429-439(2017).
RN [10]
RP INTERACTION WITH IFTAP.
RX PubMed=30476139; DOI=10.1093/jb/mvy100;
RA Takahara M., Kunii M., Nakamura K., Harada A., Hirano T., Katoh Y.,
RA Nakayama K.;
RT "C11ORF74 interacts with the IFT-A complex and participates in ciliary
RT BBSome localization.";
RL J. Biochem. 165:257-267(2019).
RN [11]
RP VARIANTS CED1 CYS-7; PHE-322 AND GLY-502.
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).
RN [12]
RP VARIANT CED1 ARG-495.
RX PubMed=23826986; DOI=10.1111/cge.12215;
RA Tsurusaki Y., Yonezawa R., Furuya M., Nishimura G., Pooh R.K.,
RA Nakashima M., Saitsu H., Miyake N., Saito S., Matsumoto N.;
RT "Whole exome sequencing revealed biallelic IFT122 mutations in a family
RT with CED1 and recurrent pregnancy loss.";
RL Clin. Genet. 85:592-594(2014).
RN [13]
RP VARIANT CED1 VAL-572, AND CHARACTERIZATION OF VARIANT CED1 VAL-572.
RX PubMed=24689072; DOI=10.1002/mgg3.44;
RA Alazami A.M., Seidahmed M.Z., Alzahrani F., Mohammed A.O., Alkuraya F.S.;
RT "Novel IFT122 mutation associated with impaired ciliogenesis and
RT cranioectodermal dysplasia.";
RL Mol. Genet. Genomic Med. 2:103-106(2014).
RN [14]
RP VARIANTS CED1 LEU-391; CYS-570 AND PRO-712.
RX PubMed=26792575; DOI=10.1002/ajmg.a.37570;
RA Moosa S., Obregon M.G., Altmueller J., Thiele H., Nuernberg P., Fano V.,
RA Wollnik B.;
RT "Novel IFT122 mutations in three Argentinian patients with cranioectodermal
RT dysplasia: Expanding the mutational spectrum.";
RL Am. J. Med. Genet. A 170A:1295-1301(2016).
RN [15]
RP FUNCTION, IDENTIFICATION IN THE IFT-A COMPLEX, DOMAIN, CHARACTERIZATION OF
RP VARIANTS CED1 CYS-7; PHE-322; ARG-495; GLY-502 AND VAL-572, AND SUBCELLULAR
RP LOCATION.
RX PubMed=29220510; DOI=10.1093/hmg/ddx421;
RA Takahara M., Katoh Y., Nakamura K., Hirano T., Sugawa M., Tsurumi Y.,
RA Nakayama K.;
RT "Ciliopathy-associated mutations of IFT122 impair ciliary protein
RT trafficking but not ciliogenesis.";
RL Hum. Mol. Genet. 27:516-528(2018).
CC -!- FUNCTION: As a component of the IFT complex A (IFT-A), a complex
CC required for retrograde ciliary transport and entry into cilia of G
CC protein-coupled receptors (GPCRs), it is required in ciliogenesis and
CC ciliary protein trafficking (PubMed:27932497, PubMed:29220510).
CC Involved in cilia formation during neuronal patterning. Acts as a
CC negative regulator of Shh signaling. Required to recruit TULP3 to
CC primary cilia (By similarity). {ECO:0000250|UniProtKB:Q6NWV3,
CC ECO:0000269|PubMed:27932497, ECO:0000269|PubMed:29220510}.
CC -!- SUBUNIT: Component of the IFT complex A (IFT-A) complex
CC (PubMed:20889716, PubMed:27932497). IFT-A complex is divided into a
CC core subcomplex composed of IFT122:IFT140:WDR19 which is associated
CC with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B
CC (PubMed:27932497, PubMed:29220510). Interacts with IFT43:WDR35; the
CC interaction connects the 2 IFT-A subcomplexes (PubMed:29220510).
CC Interacts with IFTAP; the interaction associates IFTAP with IFT-A
CC complex (PubMed:30476139). {ECO:0000269|PubMed:20889716,
CC ECO:0000269|PubMed:27932497, ECO:0000269|PubMed:29220510,
CC ECO:0000269|PubMed:30476139}.
CC -!- INTERACTION:
CC Q9HBG6; Q8NEZ3: WDR19; NbExp=5; IntAct=EBI-2805994, EBI-11903679;
CC Q9HBG6; Q9Q2G4: ORF; Xeno; NbExp=3; IntAct=EBI-2805994, EBI-6248094;
CC Q9HBG6-3; Q7Z4L5: TTC21B; NbExp=2; IntAct=EBI-26854447, EBI-2851301;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:29220510}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:29220510}. Note=Localizes to photoreceptor
CC connecting cilia. {ECO:0000250|UniProtKB:Q6NWV3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=10;
CC Name=1;
CC IsoId=Q9HBG6-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q9HBG6-3; Sequence=VSP_041161;
CC Name=4;
CC IsoId=Q9HBG6-4; Sequence=VSP_043310, VSP_041161, VSP_043311;
CC Name=5;
CC IsoId=Q9HBG6-5; Sequence=VSP_045224;
CC Name=6;
CC IsoId=Q9HBG6-6; Sequence=VSP_045224, VSP_041161, VSP_043311;
CC Name=7;
CC IsoId=Q9HBG6-7; Sequence=VSP_056773, VSP_041161;
CC Name=8;
CC IsoId=Q9HBG6-8; Sequence=VSP_056773;
CC Name=9;
CC IsoId=Q9HBG6-9; Sequence=VSP_056774, VSP_041161, VSP_056777,
CC VSP_043311;
CC Name=10;
CC IsoId=Q9HBG6-10; Sequence=VSP_056775, VSP_056776, VSP_043311;
CC Name=11;
CC IsoId=Q9HBG6-11; Sequence=VSP_041161, VSP_056778;
CC -!- TISSUE SPECIFICITY: Expressed in many tissues. Predominant expression
CC in testis and pituitary. {ECO:0000269|PubMed:11242542}.
CC -!- DOMAIN: Forms the trimeric core subcomplex IFT122:IFT140:WDR19 via the
CC C-terminal region, whereas it interacts with IFT43:WDR35 via the N-
CC terminal region containing the WD repeats.
CC {ECO:0000269|PubMed:29220510}.
CC -!- DISEASE: Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A disorder
CC characterized by craniofacial, skeletal and ectodermal abnormalities.
CC Clinical features include dolichocephaly (with or without sagittal
CC suture synostosis), scaphocephaly, short stature, limb shortening,
CC short ribs, narrow chest, brachydactyly, renal failure and hepatic
CC fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity
CC and abnormal nails. {ECO:0000269|PubMed:20493458,
CC ECO:0000269|PubMed:23826986, ECO:0000269|PubMed:24689072,
CC ECO:0000269|PubMed:26792575, ECO:0000269|PubMed:29220510}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
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DR EMBL; AF244930; AAG15427.1; -; mRNA.
DR EMBL; AF244931; AAG15428.1; -; mRNA.
DR EMBL; AF302154; AAG13415.1; -; mRNA.
DR EMBL; AK001759; BAA91888.1; -; mRNA.
DR EMBL; AK293852; BAG57250.1; -; mRNA.
DR EMBL; AK298526; BAG60729.1; -; mRNA.
DR EMBL; AK124140; BAG54015.1; -; mRNA.
DR EMBL; AK223095; BAD96815.1; -; mRNA.
DR EMBL; AC080007; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL449212; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW79246.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79247.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79249.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79250.1; -; Genomic_DNA.
DR EMBL; BC028353; AAH28353.1; -; mRNA.
DR EMBL; BC003045; AAH03045.2; -; mRNA.
DR EMBL; BC004238; AAH04238.1; -; mRNA.
DR CCDS; CCDS3059.1; -. [Q9HBG6-3]
DR CCDS; CCDS3060.1; -. [Q9HBG6-5]
DR CCDS; CCDS3061.1; -. [Q9HBG6-1]
DR CCDS; CCDS3062.1; -. [Q9HBG6-4]
DR CCDS; CCDS63770.1; -. [Q9HBG6-6]
DR CCDS; CCDS63772.1; -. [Q9HBG6-8]
DR CCDS; CCDS63773.1; -. [Q9HBG6-7]
DR PIR; T43484; T43484.
DR RefSeq; NP_001267470.1; NM_001280541.1. [Q9HBG6-6]
DR RefSeq; NP_001267474.1; NM_001280545.1. [Q9HBG6-8]
DR RefSeq; NP_001267475.1; NM_001280546.1. [Q9HBG6-7]
DR RefSeq; NP_060732.2; NM_018262.3. [Q9HBG6-3]
DR RefSeq; NP_443711.2; NM_052985.3. [Q9HBG6-5]
DR RefSeq; NP_443715.1; NM_052989.2. [Q9HBG6-1]
DR RefSeq; NP_443716.1; NM_052990.2. [Q9HBG6-4]
DR AlphaFoldDB; Q9HBG6; -.
DR SMR; Q9HBG6; -.
DR BioGRID; 120882; 85.
DR ComplexPortal; CPX-5021; IFT-A complex.
DR CORUM; Q9HBG6; -.
DR IntAct; Q9HBG6; 24.
DR STRING; 9606.ENSP00000296266; -.
DR iPTMnet; Q9HBG6; -.
DR PhosphoSitePlus; Q9HBG6; -.
DR BioMuta; IFT122; -.
DR DMDM; 212276436; -.
DR EPD; Q9HBG6; -.
DR jPOST; Q9HBG6; -.
DR MassIVE; Q9HBG6; -.
DR MaxQB; Q9HBG6; -.
DR PaxDb; Q9HBG6; -.
DR PeptideAtlas; Q9HBG6; -.
DR PRIDE; Q9HBG6; -.
DR ProteomicsDB; 17562; -.
DR ProteomicsDB; 19657; -.
DR ProteomicsDB; 33699; -.
DR ProteomicsDB; 3996; -.
DR ProteomicsDB; 45277; -.
DR ProteomicsDB; 4822; -.
DR ProteomicsDB; 81540; -. [Q9HBG6-1]
DR ProteomicsDB; 81542; -. [Q9HBG6-3]
DR ProteomicsDB; 81543; -. [Q9HBG6-4]
DR Antibodypedia; 33252; 71 antibodies from 19 providers.
DR DNASU; 55764; -.
DR Ensembl; ENST00000296266.7; ENSP00000296266.3; ENSG00000163913.14. [Q9HBG6-5]
DR Ensembl; ENST00000347300.6; ENSP00000323973.3; ENSG00000163913.14. [Q9HBG6-3]
DR Ensembl; ENST00000348417.7; ENSP00000324005.4; ENSG00000163913.14. [Q9HBG6-1]
DR Ensembl; ENST00000349441.6; ENSP00000324165.3; ENSG00000163913.14. [Q9HBG6-4]
DR Ensembl; ENST00000507564.5; ENSP00000425536.1; ENSG00000163913.14. [Q9HBG6-6]
DR Ensembl; ENST00000689005.1; ENSP00000510168.1; ENSG00000163913.14. [Q9HBG6-10]
DR Ensembl; ENST00000693233.1; ENSP00000509186.1; ENSG00000163913.14. [Q9HBG6-7]
DR GeneID; 55764; -.
DR KEGG; hsa:55764; -.
DR MANE-Select; ENST00000348417.7; ENSP00000324005.4; NM_052989.3; NP_443715.1.
DR UCSC; uc003eml.5; human. [Q9HBG6-1]
DR CTD; 55764; -.
DR DisGeNET; 55764; -.
DR GeneCards; IFT122; -.
DR GeneReviews; IFT122; -.
DR HGNC; HGNC:13556; IFT122.
DR HPA; ENSG00000163913; Tissue enhanced (testis).
DR MalaCards; IFT122; -.
DR MIM; 218330; phenotype.
DR MIM; 606045; gene.
DR neXtProt; NX_Q9HBG6; -.
DR OpenTargets; ENSG00000163913; -.
DR Orphanet; 1515; Cranioectodermal dysplasia.
DR Orphanet; 93268; Short rib-polydactyly syndrome, Beemer-Langer type.
DR PharmGKB; PA37798; -.
DR VEuPathDB; HostDB:ENSG00000163913; -.
DR eggNOG; KOG1538; Eukaryota.
DR GeneTree; ENSGT00390000001016; -.
DR HOGENOM; CLU_008896_0_0_1; -.
DR InParanoid; Q9HBG6; -.
DR OMA; QSYTIGC; -.
DR OrthoDB; 449704at2759; -.
DR PhylomeDB; Q9HBG6; -.
DR TreeFam; TF105855; -.
DR PathwayCommons; Q9HBG6; -.
DR Reactome; R-HSA-5610787; Hedgehog 'off' state.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q9HBG6; -.
DR BioGRID-ORCS; 55764; 11 hits in 1077 CRISPR screens.
DR ChiTaRS; IFT122; human.
DR GenomeRNAi; 55764; -.
DR Pharos; Q9HBG6; Tbio.
DR PRO; PR:Q9HBG6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9HBG6; protein.
DR Bgee; ENSG00000163913; Expressed in right testis and 164 other tissues.
DR ExpressionAtlas; Q9HBG6; baseline and differential.
DR Genevisible; Q9HBG6; HS.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0097542; C:ciliary tip; TAS:Reactome.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0030991; C:intraciliary transport particle A; IDA:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0097730; C:non-motile cilium; IBA:GO_Central.
DR GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
DR GO; GO:0048593; P:camera-type eye morphogenesis; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0010172; P:embryonic body morphogenesis; ISS:UniProtKB.
DR GO; GO:0035050; P:embryonic heart tube development; ISS:UniProtKB.
DR GO; GO:0035721; P:intraciliary retrograde transport; ISS:UniProtKB.
DR GO; GO:0042073; P:intraciliary transport; IMP:UniProtKB.
DR GO; GO:0060173; P:limb development; ISS:UniProtKB.
DR GO; GO:0045879; P:negative regulation of smoothened signaling pathway; ISS:UniProtKB.
DR GO; GO:0001843; P:neural tube closure; ISS:UniProtKB.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR GO; GO:0061512; P:protein localization to cilium; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 3.
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; 7.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Developmental protein; Disease variant; Ectodermal dysplasia;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1241
FT /note="Intraflagellar transport protein 122 homolog"
FT /id="PRO_0000051045"
FT REPEAT 10..50
FT /note="WD 1"
FT REPEAT 51..91
FT /note="WD 2"
FT REPEAT 93..129
FT /note="WD 3"
FT REPEAT 131..169
FT /note="WD 4"
FT REPEAT 278..317
FT /note="WD 5"
FT REPEAT 319..359
FT /note="WD 6"
FT REPEAT 512..551
FT /note="WD 7"
FT REGION 222..246
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 229..245
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..150
FT /note="Missing (in isoform 7 and isoform 8)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_056773"
FT VAR_SEQ 65..116
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043310"
FT VAR_SEQ 65..116
FT /note="GKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDF
FT -> VLCIE (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056774"
FT VAR_SEQ 66..117
FT /note="Missing (in isoform 10)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056775"
FT VAR_SEQ 91
FT /note="T -> TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGGRIDCLRPSVQN
FT QPGQK (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:11242542"
FT /id="VSP_045224"
FT VAR_SEQ 139..247
FT /note="SWTNDGQYLALGMFNGIISIRNKNGEEKVKIERPGGSLSPIWSICWNPSSRW
FT ESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL
FT -> R (in isoform 10)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056776"
FT VAR_SEQ 188..247
FT /note="SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEED
FT DSPRDDNL -> R (in isoform 3, isoform 4, isoform 6, isoform
FT 7, isoform 9 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_041161"
FT VAR_SEQ 665..682
FT /note="Missing (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056777"
FT VAR_SEQ 930
FT /note="Q -> QA (in isoform 4, isoform 6, isoform 9 and
FT isoform 10)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_043311"
FT VAR_SEQ 1053..1241
FT /note="Missing (in isoform 11)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056778"
FT VARIANT 7
FT /note="W -> C (in CED1; perturbed ciliary protein
FT trafficking; no effect on interaction with ITF43:WDR35;
FT fail to assemble IFT-A complex at the cilia base; no effect
FT on ciliogenesis; dbSNP:rs267607193)"
FT /evidence="ECO:0000269|PubMed:20493458,
FT ECO:0000269|PubMed:29220510"
FT /id="VAR_063584"
FT VARIANT 322
FT /note="S -> F (in CED1; no effect on interaction with
FT ITF43:WDR35; dbSNP:rs267607192)"
FT /evidence="ECO:0000269|PubMed:20493458,
FT ECO:0000269|PubMed:29220510"
FT /id="VAR_063585"
FT VARIANT 391
FT /note="V -> L (in CED1; unknown pathological significance;
FT dbSNP:rs777418707)"
FT /evidence="ECO:0000269|PubMed:26792575"
FT /id="VAR_081601"
FT VARIANT 495
FT /note="G -> R (in CED1; strongly decreases interaction with
FT ITF43:WDR35; dbSNP:rs397515568)"
FT /evidence="ECO:0000269|PubMed:23826986,
FT ECO:0000269|PubMed:29220510"
FT /id="VAR_081602"
FT VARIANT 502
FT /note="V -> G (in CED1; strongly decreases interaction with
FT ITF43:WDR35; dbSNP:rs267607191)"
FT /evidence="ECO:0000269|PubMed:20493458,
FT ECO:0000269|PubMed:29220510"
FT /id="VAR_063586"
FT VARIANT 570
FT /note="F -> C (in CED1; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:26792575"
FT /id="VAR_081603"
FT VARIANT 572
FT /note="G -> V (in CED1; decreased ciliogenesis; perturbed
FT ciliary protein trafficking; strongly decreases interaction
FT with ITF43:WDR35; fail to assemble IFT-A complex at the
FT cilia base; dbSNP:rs786205566)"
FT /evidence="ECO:0000269|PubMed:24689072,
FT ECO:0000269|PubMed:29220510"
FT /id="VAR_081604"
FT VARIANT 712
FT /note="L -> P (in CED1; unknown pathological significance;
FT dbSNP:rs1224050823)"
FT /evidence="ECO:0000269|PubMed:26792575"
FT /id="VAR_081605"
FT CONFLICT 238
FT /note="E -> D (in Ref. 7; AAH28353)"
FT /evidence="ECO:0000305"
FT CONFLICT 273
FT /note="I -> T (in Ref. 1; AAG15427)"
FT /evidence="ECO:0000305"
FT CONFLICT 489
FT /note="L -> S (in Ref. 3; BAD96815)"
FT /evidence="ECO:0000305"
FT CONFLICT 687
FT /note="R -> Q (in Ref. 1; AAG15428)"
FT /evidence="ECO:0000305"
FT CONFLICT 773
FT /note="S -> P (in Ref. 4; BAG54015)"
FT /evidence="ECO:0000305"
FT CONFLICT 843
FT /note="E -> G (in Ref. 4; BAG54015)"
FT /evidence="ECO:0000305"
FT CONFLICT 907
FT /note="A -> V (in Ref. 1; AAG15428)"
FT /evidence="ECO:0000305"
FT CONFLICT 996
FT /note="V -> VR (in Ref. 1; AAG15427 and 3; BAG60729)"
FT /evidence="ECO:0000305"
FT CONFLICT 1182
FT /note="L -> F (in Ref. 3; BAA91888 and 4; BAG54015)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1241 AA; 141825 MW; 6C3C543369A6BDF5 CRC64;
MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK GHKDTVYCVA
YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS YNPITHQLAS CSSSDFGLWS
PEQKSVSKHK SSSKIICCSW TNDGQYLALG MFNGIISIRN KNGEEKVKIE RPGGSLSPIW
SICWNPSSRW ESFWMNRENE DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD
SPRDDNLEER NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS
DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL IFSTVHGLYK
DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR LAIQLPEKIL IYELYSEDLS
DMHYRVKEKI IKKFECNLLV VCANHIILCQ EKRLQCLSFS GVKEREWQME SLIRYIKVIG
GPPGREGLLV GLKNGQILKI FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV
YDIDTKELLF QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS
KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA MEALEGLDFE
TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF SYQGKFHEAA KLYKRSGHEN
LALEMYTDLC MFEYAKDFLG SGDPKETKML ITKQADWARN IKEPKAAVEM YISAGEHVKA
IEICGDHGWV DMLIDIARKL DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL
HVETQRWDEA FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ
LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE LYHGYHAIHR
HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF TLAKQSKALG AYRLARHAYD
KLRGLYIPAR FQKSIELGTL TIRAKPFHDS EELVPLCYRC STNNPLLNNL GNVCINCRQP
FIFSASSYDV LHLVEFYLEE GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET
KDSIGDEDPF TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP
DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P
