2024-04-26 07:05:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020347 4075 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), transcript variant 1, mRNA. ACCESSION NM_020347 VERSION NM_020347.3 GI:444909138 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4075) AUTHORS Marion,V., Stutzmann,F., Gerard,M., De Melo,C., Schaefer,E., Claussmann,A., Helle,S., Delague,V., Souied,E., Barrey,C., Verloes,A., Stoetzel,C. and Dollfus,H. TITLE Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly JOURNAL J. Med. Genet. 49 (5), 317-321 (2012) PUBMED 22510444 REMARK GeneRIF: The absence of LZTFL1 leads to a BBS phenotype with enhanced developmental abnormalities associated with cellular Shh dysfunction. LZTFL1 is a novel BBS gene (BBS17). REFERENCE 2 (bases 1 to 4075) AUTHORS Seo,S., Zhang,Q., Bugge,K., Breslow,D.K., Searby,C.C., Nachury,M.V. and Sheffield,V.C. TITLE A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened JOURNAL PLoS Genet. 7 (11), E1002358 (2011) PUBMED 22072986 REMARK GeneRIF: Our findings suggest that LZTFL1 is an important regulator of BBSome ciliary trafficking and hedgehog signaling REFERENCE 3 (bases 1 to 4075) AUTHORS Wei,Q., Zhou,W., Wang,W., Gao,B., Wang,L., Cao,J. and Liu,Z.P. TITLE Tumor-suppressive functions of leucine zipper transcription factor-like 1 JOURNAL Cancer Res. 70 (7), 2942-2950 (2010) PUBMED 20233871 REMARK GeneRIF: LZTFL1 may inhibit tumorigenesis by stabilizing E-cadherin-mediated adherens junction formation and promoting epithelial cell differentiation. REFERENCE 4 (bases 1 to 4075) AUTHORS Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J., Snippe,H., Hibberd,M.L. and Seielstad,M. TITLE New genetic associations detected in a host response study to hepatitis B vaccine JOURNAL Genes Immun. 11 (3), 232-238 (2010) PUBMED 20237496 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 4075) AUTHORS Kiss,H., Kedra,D., Kiss,C., Kost-Alimova,M., Yang,Y., Klein,G., Imreh,S. and Dumanski,J.P. TITLE The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3 JOURNAL Genomics 73 (1), 10-19 (2001) PUBMED 11352561 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY159348.1, AJ297351.1, AC098476.2 and BX112707.1. On Feb 2, 2013 this sequence version replaced gi:56676319. Summary: This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]. Transcript Variant: This variant (1) encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC042483.1, AJ297351.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-43 HY159348.1 2-44 44-3427 AJ297351.1 1-3384 3428-4055 AC098476.2 173999-174626 c 4056-4075 BX112707.1 1-20 c FEATURES Location/Qualifiers source 1..4075 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p21.3" gene 1..4075 /gene="LZTFL1" /gene_synonym="BBS17" /note="leucine zipper transcription factor-like 1" /db_xref="GeneID:54585" /db_xref="HGNC:6741" /db_xref="HPRD:07586" /db_xref="MIM:606568" exon 1..170 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" CDS 168..1067 /gene="LZTFL1" /gene_synonym="BBS17" /note="isoform 1 is encoded by transcript variant 1; leucine zipper transcription factor-like protein 1" /codon_start=1 /product="leucine zipper transcription factor-like protein 1 isoform 1" /protein_id="NP_065080.1" /db_xref="GI:9966793" /db_xref="CCDS:CCDS2731.1" /db_xref="GeneID:54585" /db_xref="HGNC:6741" /db_xref="HPRD:07586" /db_xref="MIM:606568" /translation="
MAELGLNEHHQNEVINYMRFARSKRGLRLKTVDSCFQDLKESRLVEDTFTIDEVSEVLNGLQAVVHSEVESELINTAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKAEITSSNKKPILDVTKPKLAPLNEGGTAELLNKEILRLQEENEKLKSRLKTIEIQATNALDEKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKTLNDKTENQKSLEENLATAKHDLLRVQEQLHMAEKELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED
" misc_feature <615..>1049 /gene="LZTFL1" /gene_synonym="BBS17" /note="chromosome segregation protein SMC, common bacterial type; Region: SMC_prok_B; TIGR02168" /db_xref="CDD:162739" exon 171..295 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 296..490 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 491..551 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 552..623 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 624..689 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 690..767 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 768..944 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" variation 903 /gene="LZTFL1" /gene_synonym="BBS17" /replace="a" /replace="g" /db_xref="dbSNP:1129183" exon 945..1048 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 1049..4065 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" polyA_signal 1397..1402 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 1452..1457 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 1507..1512 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 1809..1814 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 2448..2453 /gene="LZTFL1" /gene_synonym="BBS17" STS 2455..2532 /gene="LZTFL1" /gene_synonym="BBS17" /standard_name="SHGC-76871" /db_xref="UniSTS:71193" polyA_signal 2852..2857 /gene="LZTFL1" /gene_synonym="BBS17" variation 3015..3016 /gene="LZTFL1" /gene_synonym="BBS17" /replace="" /replace="gtt" /db_xref="dbSNP:3834206" STS 3160..3242 /gene="LZTFL1" /gene_synonym="BBS17" /standard_name="SHGC-76894" /db_xref="UniSTS:20426" STS 3187..3288 /gene="LZTFL1" /gene_synonym="BBS17" /standard_name="WI-19320" /db_xref="UniSTS:55049" polyA_signal 3291..3296 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 3367..3372 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 3371..3376 /gene="LZTFL1" /gene_synonym="BBS17" polyA_site 3390 /gene="LZTFL1" /gene_synonym="BBS17" variation 3867 /gene="LZTFL1" /gene_synonym="BBS17" /replace="a" /replace="g" /db_xref="dbSNP:1058961" polyA_signal 4036..4041 /gene="LZTFL1" /gene_synonym="BBS17" polyA_site 4065 /gene="LZTFL1" /gene_synonym="BBS17" ORIGIN
ataattgcagtccacgtgcctcggtttccgttagcaaccagaggcttctaaacaacctaccctccttccccattttctgtggtccaactaccctcggcgatcccaggcttggcggggcaccgcctggcctctcccgttcctttaggctgccgccgctgcctgccgccatggcagagttgggcctaaatgagcaccatcaaaatgaagttattaattatatgcgttttgctcgttcaaagagaggcttgagactcaaaactgtagattcctgcttccaagacctcaaggagagcaggctggtggaggacaccttcaccatagatgaagtctctgaagtcctcaatggattacaagctgtggttcatagtgaggtggaatctgagctcatcaacactgcctataccaatgtgttacttctgcgacagctgtttgcacaagctgagaagtggtatcttaagctacagacagacatctctgaacttgaaaaccgagaattattagaacaagttgcagaatttgaaaaagcagagattacatcttcaaacaaaaagcccatcttagatgtcacaaagccaaaacttgctccacttaatgaaggtggaacagcagaactcctaaacaaggaaattttaagacttcaagaagagaatgagaaattgaagtcaaggttgaagaccattgaaatacaggctacaaatgcactggatgaaaagtcaaaactagaaaaagcactgcaagatttacagcttgatcaaggaaatcaaaaggattttataaaggcccaagacttaagtaacttagaaaacactgtcgctgccttaaagagtgagtttcagaagacacttaatgacaagacagaaaaccagaagtcactggaggagaatctggcgacagccaagcacgatctactcagggttcaggagcagctgcacatggctgaaaaggaattagaaaagaaatttcagcaaacagcagcttatcgaaacatgaaagagattcttaccaagaagaatgaccaaatcaaagatctgaggaaaagactggcacaatatgaacctgaagattaaaactgaagatttcctctggaagctaccacatgcaaacatacaagcagtctcacctcaggcatgtattttgaaaagcattttgtcatatcccctctccttatttttctaatatttagactttgaatatttagaactagagttcctattttcagctagttgaaaacagagaaaacctagtgattctgtctggtcatcccacacacctctctactgagtgctccagagtcttagctcacatgcactgagaattctttacagcaaagaagagatttttagagtgggaagaagaggcttatccttctgcattagtataaagagtctgtatttttaataaatgttaaataagctaacaatgtttgtacttatgcattccccatgggtaaaaataaataatagcattgttaaagatagttattaccaaaaaaagagagttattacaaataaatatgtctctttatttttaaaaatgaaatcttaattcatttactctatttgatgataaactataaattcattgaaaatgtgaattctattatgggtagcctttttaccaattataaggaaaatttacagcagtgaacatgaacattcacttagcttcctcagtctctccatcttaaagatcatttatcagaggaggttcagcattttttgcagcataacttttcatgagtctgtattactaatggataagtcaaatccatcctgcacttctacagtttagaaagtatctggactcagaataaatgtaatatttatacttgtttccagaatgttattttacattttatgttcaataagaacactttttaaaagacgtatattcaacataaaatcagctatcagacttcagattagactttatttatgtgggtctataataattgtattttcaagaggttttcactatatttgtattggcctggttttctcagacgattttggacaaatcattagaaactgggcatcatatccacagttatgtaaggcagtgatatactataaggataaacaaagtcaagtccataaagcaataatccctcagaaggaaagtccttacttttcacatattaatatttagtaatttttcctgcttctaaaagtgagagtatcacaccctaaatgaacactgtctactaagagacatcattccatttccacaaatgaagattttattccaagaaacgagtttactgattggagcatagggcttgttgttatttttattcaagcttttagtaatagccttgaatttattatttttcttataggctttttgttaaaatagtgaaggaacaaatgttaaagggtaagataatttccctgcaaaaggacacagaaggcagtcttaagaagatgaatggatgagagaagggagagaataaaatgcaataacgagccagcatttactatgtattttctcctcacctgtctctccatatttaggtcacttaccagtttctgtgcccttttggagcttttgttgagggcttcattctcaccctgtatttctttagccctaaattgacactctctccaaaaatccattccattgtctgtggaccaagatgttctatgtaattcagaagcagaactcttggctaaagggctagtgtggccttcagaaaccattcaattattttctccctacacctttgtcagtttgaaaccagtgaggaaaaaaggtatgttgataagaaacctatattgctaggtagaatttgtacttgttttcttggtagcagttttgaaatattctgtacagtacgttcctattgtttaataataaattcaaaaatatttctaaaaccttaaaaccaactatgccaagcattaagataaacaaatatgatgttctttgacgtaaatcaacgtgatgattctttcacatgtaaacacattttagtgtttctggtttgtcatttttgttgttgttgttgttgttgttatttactctataccctttagcaaaatacagttttaaatttttattgtttttagtagtttcccaactttaagacttatctaatttaactgagaaagaaagcctttttcatatatatatatattggatttctaaggatggtggtttgagccttgattagacttttgatgtgctaagccagacaggcagtctgtacattgatggccatcacaatgcagctttggtttaatttaattcaggcctgctgctgagttatgcacagactttttgttgaccaaaataaaatataaagggttttcttctgtttgacatttgtgttcattttttctctttatgtattacattttaacctatattaaataaatgtttaaatgataatttgcttatgtcttataaaactcagcataagaaaaatactgccctaccttgactgtgtaatcttatttgataaagcctttgctattcattatttccattctgattaactgaaagagatttatagagatgctcaaattttaagcccttggtgcttttagatatatattggttgcaaaagtttggcattaatgatttccctctgcttatgtgtaaatgcctatgttccaaagctttgccactagatattcaaatcataaattgtcatgtaagccagtcttccagaaagaaaagctatttcagcaaaatgatatttcacatttagacaaaacagtagtatttagacaataatattttgacaaaaccattttcaaaactgcttaggaaaaaggggaaatattatacttaaaggtaatgacctctgtcttgaatagaggtgagtgggttggtgacaactggtttggaggcttttgtgggggactgtggtgtcttttggattgtgtcatcagctccttcatcaagtaagcgtgtagctgttattgcctattgtaaaacatgaattgatgtgaacagtactcaatctcttacattatatgaagtataacttcctctcttttttgcctataatacatcctttaacttttacagattaaaaaaccactgttagacaaagcaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:54585 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:54585 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI GeneID:54585 -> Biological process: GO:0072594 [establishment of protein localization to organelle] evidence: IEA GeneID:54585 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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