ID IF122_HUMAN Reviewed; 1241 AA. AC Q9HBG6; B3KW53; B4DEY9; B4DPW7; E7EQF4; E9PDG2; E9PDX2; G3XAB1; AC H7C3C0; Q53G36; Q8TC06; Q9BTB9; Q9BTY4; Q9HAT9; Q9HBG5; Q9NV68; AC Q9UF80; DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot. DT 04-NOV-2008, sequence version 2. DT 28-FEB-2018, entry version 149. DE RecName: Full=Intraflagellar transport protein 122 homolog; DE AltName: Full=WD repeat-containing protein 10; DE AltName: Full=WD repeat-containing protein 140; GN Name=IFT122; Synonyms=SPG, WDR10, WDR140; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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 RT 3q21 encoding a WD-repeat protein that is highly expressed in RT pituitary and 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., 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., RA Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., RA Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., RA Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., RA Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., RA Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., RA Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., RA Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., RA Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., RA Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., RA Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., RA Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., RA Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., RA 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., RA Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., RA Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., RA 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., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA 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 RT project: 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 RT promote trafficking of G protein-coupled receptors into primary RT cilia."; RL Genes Dev. 24:2180-2193(2010). RN [9] 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., RA Beales P.L., Ropers H.H., Latos-Bielenska A., Kuss A.W.; RT "Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy RT caused by mutations in the IFT122 gene."; RL Am. J. Hum. Genet. 86:949-956(2010). CC -!- FUNCTION: Required for cilia formation during neuronal patterning. CC Acts as a negative regulator of Shh signaling. Required to recruit CC TULP3 to primary cilia (By similarity). {ECO:0000250}. CC -!- SUBUNIT: Component of the IFT complex A (IFT-A) complex. CC {ECO:0000269|PubMed:20889716}. CC -!- INTERACTION: CC Q9Q2G4:ORF (xeno); NbExp=3; IntAct=EBI-2805994, EBI-6248094; CC -!- SUBCELLULAR LOCATION: Cytoplasm. Cell projection, cilium CC {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body CC {ECO:0000250}. Note=Localizes to photoreceptor connecting cilia. CC {ECO:0000250}. 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 Note=No experimental confirmation available.; 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 CC expression in testis and pituitary. {ECO:0000269|PubMed:11242542}. CC -!- DISEASE: Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A CC disorder characterized by craniofacial, skeletal and ectodermal CC abnormalities. Clinical features include dolichocephaly (with or CC without sagittal suture synostosis), scaphocephaly, short stature, CC limb shortening, short ribs, narrow chest, brachydactyly, renal CC failure and hepatic fibrosis, small and abnormally shaped teeth, CC sparse hair, skin laxity and abnormal nails. CC {ECO:0000269|PubMed:20493458}. Note=The disease is caused by CC mutations affecting the gene represented in this entry. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 UniGene; Hs.655284; -. DR ProteinModelPortal; Q9HBG6; -. DR SMR; Q9HBG6; -. DR BioGrid; 120882; 26. DR CORUM; Q9HBG6; -. DR IntAct; Q9HBG6; 17. DR STRING; 9606.ENSP00000296266; -. DR iPTMnet; Q9HBG6; -. DR PhosphoSitePlus; Q9HBG6; -. DR BioMuta; IFT122; -. DR DMDM; 212276436; -. DR MaxQB; Q9HBG6; -. DR PaxDb; Q9HBG6; -. DR PeptideAtlas; Q9HBG6; -. DR PRIDE; Q9HBG6; -. DR DNASU; 55764; -. DR Ensembl; ENST00000296266; ENSP00000296266; ENSG00000163913. [Q9HBG6-5] DR Ensembl; ENST00000347300; ENSP00000323973; ENSG00000163913. [Q9HBG6-3] DR Ensembl; ENST00000348417; ENSP00000324005; ENSG00000163913. [Q9HBG6-1] DR Ensembl; ENST00000349441; ENSP00000324165; ENSG00000163913. [Q9HBG6-4] DR Ensembl; ENST00000431818; ENSP00000410946; ENSG00000163913. [Q9HBG6-8] DR Ensembl; ENST00000440957; ENSP00000401569; ENSG00000163913. [Q9HBG6-7] DR Ensembl; ENST00000504021; ENSP00000422179; ENSG00000163913. [Q9HBG6-9] DR Ensembl; ENST00000507564; ENSP00000425536; ENSG00000163913. [Q9HBG6-6] DR GeneID; 55764; -. DR KEGG; hsa:55764; -. DR UCSC; uc003eml.5; human. [Q9HBG6-1] DR CTD; 55764; -. DR DisGeNET; 55764; -. DR EuPathDB; HostDB:ENSG00000163913.11; -. DR GeneCards; IFT122; -. DR GeneReviews; IFT122; -. DR H-InvDB; HIX0003670; -. DR H-InvDB; HIX0163443; -. DR HGNC; HGNC:13556; IFT122. DR HPA; HPA041815; -. DR MalaCards; IFT122; -. DR MIM; 218330; phenotype. DR MIM; 606045; gene. DR neXtProt; NX_Q9HBG6; -. DR OpenTargets; ENSG00000163913; -. DR Orphanet; 1515; Cranioectodermal dysplasia. DR PharmGKB; PA37798; -. DR eggNOG; KOG1538; Eukaryota. DR eggNOG; COG2319; LUCA. DR GeneTree; ENSGT00390000001016; -. DR HOGENOM; HOG000261131; -. DR HOVERGEN; HBG069969; -. DR InParanoid; Q9HBG6; -. DR KO; K19656; -. DR OMA; YKCSNYS; -. DR OrthoDB; EOG091G01CU; -. DR PhylomeDB; Q9HBG6; -. DR TreeFam; TF105855; -. DR Reactome; R-HSA-5610787; Hedgehog 'off' state. DR Reactome; R-HSA-5620924; Intraflagellar transport. DR SignaLink; Q9HBG6; -. DR ChiTaRS; IFT122; human. DR GenomeRNAi; 55764; -. DR PRO; PR:Q9HBG6; -. DR Proteomes; UP000005640; Chromosome 3. DR Bgee; ENSG00000163913; -. DR CleanEx; HS_IFT122; -. DR ExpressionAtlas; Q9HBG6; baseline and differential. DR Genevisible; Q9HBG6; HS. DR GO; GO:0036064; C:ciliary basal body; IEA:Ensembl. DR GO; GO:0097546; C:ciliary base; IEA:Ensembl. DR GO; GO:0097542; C:ciliary tip; TAS:Reactome. DR GO; GO:0005929; C:cilium; ISS:UniProtKB. DR GO; GO:0005829; C:cytosol; IDA:HPA. DR GO; GO:0030991; C:intraciliary transport particle A; IDA:UniProtKB. DR GO; GO:0016020; C:membrane; HDA:UniProtKB. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB. DR GO; GO:0048593; P:camera-type eye morphogenesis; ISS:UniProtKB. DR GO; GO:0060830; P:ciliary receptor clustering involved in smoothened signaling pathway; IEA:Ensembl. DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB. DR GO; GO:0010172; P:embryonic body morphogenesis; ISS:UniProtKB. DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl. DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IEA:Ensembl. DR GO; GO:0035050; P:embryonic heart tube development; ISS:UniProtKB. DR GO; GO:0060971; P:embryonic heart tube left/right pattern formation; IEA:Ensembl. DR GO; GO:0072594; P:establishment of protein localization to organelle; IEA:Ensembl. DR GO; GO:0035720; P:intraciliary anterograde transport; IEA:Ensembl. DR GO; GO:0035721; P:intraciliary retrograde transport; ISS:UniProtKB. DR GO; GO:0035735; P:intraciliary transport involved in cilium assembly; TAS:Reactome. DR GO; GO:0060173; P:limb development; ISS:UniProtKB. DR GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IEA:Ensembl. DR GO; GO:0045879; P:negative regulation of smoothened signaling pathway; ISS:UniProtKB. DR GO; GO:0021914; P:negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning; IEA:Ensembl. DR GO; GO:0001843; P:neural tube closure; ISS:UniProtKB. DR GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl. DR GO; GO:0061512; P:protein localization to cilium; IMP:MGI. DR GO; GO:0007227; P:signal transduction downstream of smoothened; IEA:Ensembl. DR GO; GO:0060831; P:smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IEA:Ensembl. DR Gene3D; 2.130.10.10; -; 1. DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf. DR InterPro; IPR001680; WD40_repeat. DR InterPro; IPR017986; WD40_repeat_dom. DR InterPro; IPR036322; WD40_repeat_dom_sf. DR Pfam; PF00400; WD40; 1. DR SMART; SM00320; WD40; 7. DR SUPFAM; SSF50978; SSF50978; 3. 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; Complete proteome; Cytoplasm; KW Cytoskeleton; Developmental protein; Disease mutation; KW Ectodermal dysplasia; Reference proteome; Repeat; WD repeat. FT CHAIN 1 1241 Intraflagellar transport protein 122 FT homolog. FT /FTId=PRO_0000051045. FT REPEAT 10 50 WD 1. FT REPEAT 51 91 WD 2. FT REPEAT 93 129 WD 3. FT REPEAT 131 169 WD 4. FT REPEAT 278 317 WD 5. FT REPEAT 319 359 WD 6. FT REPEAT 512 551 WD 7. FT VAR_SEQ 1 150 Missing (in isoform 7 and isoform 8). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_056773. FT VAR_SEQ 65 116 Missing (in isoform 4). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_043310. FT VAR_SEQ 65 116 GKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPIT FT HQLASCSSSDF -> VLCIE (in isoform 9). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_056774. FT VAR_SEQ 66 117 Missing (in isoform 10). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_056775. FT VAR_SEQ 91 91 T -> TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGG FT RIDCLRPSVQNQPGQK (in isoform 5 and FT isoform 6). FT {ECO:0000303|PubMed:11242542}. FT /FTId=VSP_045224. FT VAR_SEQ 139 247 SWTNDGQYLALGMFNGIISIRNKNGEEKVKIERPGGSLSPI FT WSICWNPSSRWESFWMNRENEDAEDVIVNRYIQEIPSTLKS FT AVYSSQGSEAEEEEPEEEDDSPRDDNL -> R (in FT isoform 10). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_056776. FT VAR_SEQ 188 247 SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGS FT EAEEEEPEEEDDSPRDDNL -> R (in isoform 3, FT isoform 4, isoform 6, isoform 7, isoform FT 9 and isoform 11). FT {ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_041161. FT VAR_SEQ 665 682 Missing (in isoform 9). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_056777. FT VAR_SEQ 930 930 Q -> QA (in isoform 4, isoform 6, isoform FT 9 and isoform 10). FT {ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_043311. FT VAR_SEQ 1053 1241 Missing (in isoform 11). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_056778. FT VARIANT 7 7 W -> C (in CED1; dbSNP:rs267607193). FT {ECO:0000269|PubMed:20493458}. FT /FTId=VAR_063584. FT VARIANT 322 322 S -> F (in CED1; dbSNP:rs267607192). FT {ECO:0000269|PubMed:20493458}. FT /FTId=VAR_063585. FT VARIANT 502 502 V -> G (in CED1; dbSNP:rs267607191). FT {ECO:0000269|PubMed:20493458}. FT /FTId=VAR_063586. FT CONFLICT 238 238 E -> D (in Ref. 7; AAH28353). FT {ECO:0000305}. FT CONFLICT 273 273 I -> T (in Ref. 1; AAG15427). FT {ECO:0000305}. FT CONFLICT 489 489 L -> S (in Ref. 3; BAD96815). FT {ECO:0000305}. FT CONFLICT 687 687 R -> Q (in Ref. 1; AAG15428). FT {ECO:0000305}. FT CONFLICT 773 773 S -> P (in Ref. 4; BAG54015). FT {ECO:0000305}. FT CONFLICT 843 843 E -> G (in Ref. 4; BAG54015). FT {ECO:0000305}. FT CONFLICT 907 907 A -> V (in Ref. 1; AAG15428). FT {ECO:0000305}. FT CONFLICT 996 996 V -> VR (in Ref. 1; AAG15427 and 3; FT BAG60729). {ECO:0000305}. FT CONFLICT 1182 1182 L -> F (in Ref. 3; BAA91888 and 4; FT BAG54015). {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 //