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LZTL1_HUMAN
ID   LZTL1_HUMAN             Reviewed;         299 AA.
AC   Q9NQ48; B3KSI9; B4E0K7; Q8TC61; Q9NQ56;
DT   26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2000, sequence version 1.
DT   03-AUG-2022, entry version 148.
DE   RecName: Full=Leucine zipper transcription factor-like protein 1;
GN   Name=LZTFL1;
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 [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY,
RP   DEVELOPMENTAL STAGE, AND VARIANT ASN-246.
RC   TISSUE=Testis;
RX   PubMed=11352561; DOI=10.1006/geno.2000.6498;
RA   Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S.,
RA   Dumanski J.P.;
RT   "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within
RT   the common eliminated region 1 (C3CER1) in 3p21.3.";
RL   Genomics 73:10-19(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Endometrial adenocarcinoma;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
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 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   [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS GLU-152
RP   AND ARG-251.
RC   TISSUE=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   [7]
RP   FUNCTION AS TUMOR SUPPRESSOR, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=20233871; DOI=10.1158/0008-5472.can-09-3826;
RA   Wei Q., Zhou W., Wang W., Gao B., Wang L., Cao J., Liu Z.P.;
RT   "Tumor-suppressive functions of leucine zipper transcription factor-like
RT   1.";
RL   Cancer Res. 70:2942-2950(2010).
RN   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [9]
RP   FUNCTION, SELF-ASSOCIATION, INTERACTION WITH BBS9, ASSOCIATION WITH THE
RP   BBSOME COMPLEX, SUBCELLULAR LOCATION, AND MUTAGENESIS OF 24-LYS-ARG-25.
RX   PubMed=22072986; DOI=10.1371/journal.pgen.1002358;
RA   Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V.,
RA   Sheffield V.C.;
RT   "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and
RT   Smoothened.";
RL   PLoS Genet. 7:E1002358-E1002358(2011).
RN   [10]
RP   FUNCTION IN SONIC HEDGEHOG PATHWAY, AND INVOLVEMENT IN BBS17.
RX   PubMed=22510444; DOI=10.1136/jmedgenet-2012-100737;
RA   Marion V., Stutzmann F., Gerard M., De Melo C., Schaefer E., Claussmann A.,
RA   Helle S., Delague V., Souied E., Barrey C., Verloes A., Stoetzel C.,
RA   Dollfus H.;
RT   "Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened
RT   trafficking regulator, in a family with Bardet--Biedl syndrome with situs
RT   inversus and insertional polydactyly.";
RL   J. Med. Genet. 49:317-321(2012).
RN   [11]
RP   VARIANT BBS17 PRO-87.
RX   PubMed=23692385; DOI=10.1111/cge.12198;
RA   Schaefer E., Lauer J., Durand M., Pelletier V., Obringer C., Claussmann A.,
RA   Braun J.J., Redin C., Mathis C., Muller J., Schmidt-Mutter C., Flori E.,
RA   Marion V., Stoetzel C., Dollfus H.;
RT   "Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients
RT   with LZTFL1 (BBS17) mutations.";
RL   Clin. Genet. 85:476-481(2014).
CC   -!- FUNCTION: Regulates ciliary localization of the BBSome complex.
CC       Together with the BBSome complex, controls SMO ciliary trafficking and
CC       contributes to the sonic hedgehog (SHH) pathway regulation. May play a
CC       role in neurite outgrowth. May have tumor suppressor function.
CC       {ECO:0000269|PubMed:20233871, ECO:0000269|PubMed:22072986,
CC       ECO:0000269|PubMed:22510444}.
CC   -!- SUBUNIT: Self-associates. Interacts with BBS9; the interaction mediates
CC       the association of LZTL1 with the BBsome complex and regulates BBSome
CC       ciliary trafficking. {ECO:0000269|PubMed:22072986}.
CC   -!- INTERACTION:
CC       Q9NQ48; Q3SYG4: BBS9; NbExp=8; IntAct=EBI-2824799, EBI-2826852;
CC       Q9NQ48; Q08426: EHHADH; NbExp=3; IntAct=EBI-2824799, EBI-2339219;
CC       Q9NQ48; Q9NQ48: LZTFL1; NbExp=18; IntAct=EBI-2824799, EBI-2824799;
CC       Q9NQ48; Q9H8S9: MOB1A; NbExp=3; IntAct=EBI-2824799, EBI-748229;
CC       Q9NQ48; Q96HA8: NTAQ1; NbExp=4; IntAct=EBI-2824799, EBI-741158;
CC       Q9NQ48; Q9HAT8: PELI2; NbExp=3; IntAct=EBI-2824799, EBI-448407;
CC       Q9NQ48; Q9NRD5: PICK1; NbExp=5; IntAct=EBI-2824799, EBI-79165;
CC       Q9NQ48; P25786: PSMA1; NbExp=3; IntAct=EBI-2824799, EBI-359352;
CC       Q9NQ48; P20618: PSMB1; NbExp=3; IntAct=EBI-2824799, EBI-372273;
CC       Q9NQ48; O00560: SDCBP; NbExp=6; IntAct=EBI-2824799, EBI-727004;
CC       Q9NQ48; Q6AZZ1: TRIM68; NbExp=3; IntAct=EBI-2824799, EBI-2130449;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20233871,
CC       ECO:0000269|PubMed:22072986}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9NQ48-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9NQ48-2; Sequence=VSP_053429;
CC       Name=3;
CC         IsoId=Q9NQ48-3; Sequence=VSP_053428, VSP_053430;
CC   -!- TISSUE SPECIFICITY: Expressed in prostate, ovary, stomach, pancreas,
CC       esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at
CC       protein level). Down-regulated in multiple primary tumors (at protein
CC       level). Detected in testis, heart, skeletal muscle, thymus, spleen,
CC       small intestine, and peripheral blood leukocytes.
CC       {ECO:0000269|PubMed:11352561, ECO:0000269|PubMed:20233871}.
CC   -!- DEVELOPMENTAL STAGE: Expressed in brain, lung, liver, and kidney.
CC       {ECO:0000269|PubMed:11352561}.
CC   -!- DISEASE: Bardet-Biedl syndrome 17 (BBS17) [MIM:615994]: A syndrome
CC       characterized by usually severe pigmentary retinopathy, early-onset
CC       obesity, polydactyly, hypogenitalism, renal malformation and
CC       intellectual disability. Secondary features include diabetes mellitus,
CC       hypertension and congenital heart disease. Bardet-Biedl syndrome
CC       inheritance is autosomal recessive, but three mutated alleles (two at
CC       one locus, and a third at a second locus) may be required for clinical
CC       manifestation of some forms of the disease.
CC       {ECO:0000269|PubMed:22510444, ECO:0000269|PubMed:23692385}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry. Patients carrying LZTFL1 mutations manifest mesoaxial
CC       polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome
CC       (PubMed:22510444 and PubMed:23692385). Some patients manifest situs
CC       inversus (PubMed:22510444). {ECO:0000269|PubMed:22510444}.
CC   -!- SIMILARITY: Belongs to the LZTFL1 family. {ECO:0000305}.
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DR   EMBL; AJ289880; CAB96873.1; -; Genomic_DNA.
DR   EMBL; AJ297351; CAB95836.1; -; mRNA.
DR   EMBL; BX640604; CAE45710.1; -; mRNA.
DR   EMBL; AK093705; BAG52751.1; -; mRNA.
DR   EMBL; AK303416; BAG64469.1; -; mRNA.
DR   EMBL; AC098476; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC099782; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471055; EAW64749.1; -; Genomic_DNA.
DR   EMBL; CH471055; EAW64750.1; -; Genomic_DNA.
DR   EMBL; BC025988; AAH25988.1; -; mRNA.
DR   EMBL; BC042483; AAH42483.1; -; mRNA.
DR   CCDS; CCDS2731.1; -. [Q9NQ48-1]
DR   CCDS; CCDS63608.1; -. [Q9NQ48-2]
DR   CCDS; CCDS63609.1; -. [Q9NQ48-3]
DR   RefSeq; NP_001263307.1; NM_001276378.1. [Q9NQ48-2]
DR   RefSeq; NP_001263308.1; NM_001276379.1. [Q9NQ48-3]
DR   RefSeq; NP_065080.1; NM_020347.3. [Q9NQ48-1]
DR   RefSeq; XP_011532140.1; XM_011533838.2. [Q9NQ48-2]
DR   RefSeq; XP_016862133.1; XM_017006644.1.
DR   AlphaFoldDB; Q9NQ48; -.
DR   SMR; Q9NQ48; -.
DR   BioGRID; 120062; 41.
DR   IntAct; Q9NQ48; 24.
DR   STRING; 9606.ENSP00000296135; -.
DR   iPTMnet; Q9NQ48; -.
DR   PhosphoSitePlus; Q9NQ48; -.
DR   BioMuta; LZTFL1; -.
DR   DMDM; 74734310; -.
DR   REPRODUCTION-2DPAGE; IPI00478250; -.
DR   EPD; Q9NQ48; -.
DR   jPOST; Q9NQ48; -.
DR   MassIVE; Q9NQ48; -.
DR   MaxQB; Q9NQ48; -.
DR   PaxDb; Q9NQ48; -.
DR   PeptideAtlas; Q9NQ48; -.
DR   PRIDE; Q9NQ48; -.
DR   ProteomicsDB; 3643; -.
DR   ProteomicsDB; 82080; -. [Q9NQ48-1]
DR   Antibodypedia; 29604; 272 antibodies from 28 providers.
DR   DNASU; 54585; -.
DR   Ensembl; ENST00000296135.11; ENSP00000296135.6; ENSG00000163818.19. [Q9NQ48-1]
DR   Ensembl; ENST00000539217.5; ENSP00000441784.1; ENSG00000163818.19. [Q9NQ48-3]
DR   Ensembl; ENST00000684620.1; ENSP00000506925.1; ENSG00000163818.19. [Q9NQ48-2]
DR   GeneID; 54585; -.
DR   KEGG; hsa:54585; -.
DR   MANE-Select; ENST00000296135.11; ENSP00000296135.6; NM_020347.4; NP_065080.1.
DR   UCSC; uc003cox.3; human. [Q9NQ48-1]
DR   CTD; 54585; -.
DR   DisGeNET; 54585; -.
DR   GeneCards; LZTFL1; -.
DR   GeneReviews; LZTFL1; -.
DR   HGNC; HGNC:6741; LZTFL1.
DR   HPA; ENSG00000163818; Low tissue specificity.
DR   MalaCards; LZTFL1; -.
DR   MIM; 606568; gene.
DR   MIM; 615994; phenotype.
DR   neXtProt; NX_Q9NQ48; -.
DR   OpenTargets; ENSG00000163818; -.
DR   Orphanet; 110; Bardet-Biedl syndrome.
DR   PharmGKB; PA30505; -.
DR   VEuPathDB; HostDB:ENSG00000163818; -.
DR   eggNOG; ENOG502QRGB; Eukaryota.
DR   GeneTree; ENSGT00390000016415; -.
DR   HOGENOM; CLU_083519_0_0_1; -.
DR   InParanoid; Q9NQ48; -.
DR   OMA; LAKYETE; -.
DR   OrthoDB; 1107668at2759; -.
DR   PhylomeDB; Q9NQ48; -.
DR   TreeFam; TF329023; -.
DR   PathwayCommons; Q9NQ48; -.
DR   Reactome; R-HSA-5620922; BBSome-mediated cargo-targeting to cilium.
DR   SignaLink; Q9NQ48; -.
DR   BioGRID-ORCS; 54585; 6 hits in 1074 CRISPR screens.
DR   ChiTaRS; LZTFL1; human.
DR   GenomeRNAi; 54585; -.
DR   Pharos; Q9NQ48; Tbio.
DR   PRO; PR:Q9NQ48; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q9NQ48; protein.
DR   Bgee; ENSG00000163818; Expressed in bronchial epithelial cell and 197 other tissues.
DR   ExpressionAtlas; Q9NQ48; baseline and differential.
DR   Genevisible; Q9NQ48; HS.
DR   GO; GO:0005929; C:cilium; IEA:Ensembl.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0002177; C:manchette; IEA:Ensembl.
DR   GO; GO:0062063; F:BBSome binding; IEA:Ensembl.
DR   GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR   GO; GO:0044877; F:protein-containing complex binding; IDA:UniProtKB.
DR   GO; GO:0030317; P:flagellated sperm motility; IEA:Ensembl.
DR   GO; GO:1903568; P:negative regulation of protein localization to ciliary membrane; IMP:GO_Central.
DR   GO; GO:1903565; P:negative regulation of protein localization to cilium; IMP:GO_Central.
DR   GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR   InterPro; IPR026157; LZTFL1.
DR   PANTHER; PTHR21635; PTHR21635; 1.
DR   Pfam; PF15294; Leu_zip; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Bardet-Biedl syndrome; Ciliopathy; Coiled coil;
KW   Cytoplasm; Disease variant; Obesity; Reference proteome.
FT   CHAIN           1..299
FT                   /note="Leucine zipper transcription factor-like protein 1"
FT                   /id="PRO_0000318757"
FT   REGION          145..299
FT                   /note="Interaction with BSS9"
FT   COILED          96..296
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..43
FT                   /note="MAELGLNEHHQNEVINYMRFARSKRGLRLKTVDSCFQDLKESR -> MRNQD
FT                   PGKMGRQRKSIKLYPTHPLVTFPRSWAKFQEKAL (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_053428"
FT   VAR_SEQ         1..17
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_053429"
FT   VAR_SEQ         260..299
FT                   /note="ELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED -> I (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_053430"
FT   VARIANT         87
FT                   /note="L -> P (in BBS17; dbSNP:rs515726135)"
FT                   /evidence="ECO:0000269|PubMed:23692385"
FT                   /id="VAR_070104"
FT   VARIANT         152
FT                   /note="K -> E (in dbSNP:rs17855512)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_038877"
FT   VARIANT         246
FT                   /note="D -> N (in dbSNP:rs1129183)"
FT                   /evidence="ECO:0000269|PubMed:11352561"
FT                   /id="VAR_038878"
FT   VARIANT         251
FT                   /note="Q -> R (in dbSNP:rs17852322)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_038879"
FT   MUTAGEN         24..25
FT                   /note="KR->AS: Increases BBS4, BBS8 and BBS9 ciliary
FT                   localization."
FT                   /evidence="ECO:0000269|PubMed:22072986"
FT   CONFLICT        108
FT                   /note="R -> Q (in Ref. 6; AAH25988)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        224
FT                   /note="K -> R (in Ref. 3; BAG64469)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   299 AA;  34592 MW;  DCCD59AB98ED2C8A CRC64;
     MAELGLNEHH QNEVINYMRF ARSKRGLRLK TVDSCFQDLK ESRLVEDTFT IDEVSEVLNG
     LQAVVHSEVE SELINTAYTN VLLLRQLFAQ AEKWYLKLQT DISELENREL LEQVAEFEKA
     EITSSNKKPI LDVTKPKLAP LNEGGTAELL NKEILRLQEE NEKLKSRLKT IEIQATNALD
     EKSKLEKALQ DLQLDQGNQK DFIKAQDLSN LENTVAALKS EFQKTLNDKT ENQKSLEENL
     ATAKHDLLRV QEQLHMAEKE LEKKFQQTAA YRNMKEILTK KNDQIKDLRK RLAQYEPED
 
 
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