2024-04-26 00:24:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_075080 3950 bp RNA linear PRI 18-JUL-2013 DEFINITION Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), transcript variant 4, non-coding RNA. ACCESSION NR_075080 VERSION NR_075080.1 GI:444909180 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 3950) 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 3950) 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 3950) 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 3950) 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 3950) 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, DA408809.1, AJ297351.1, AC098476.2 and BX112707.1. 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 (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). 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. COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-29 HY159348.1 2-30 30-675 DA408809.1 1-646 676-3302 AJ297351.1 758-3384 3303-3930 AC098476.2 173999-174626 c 3931-3950 BX112707.1 1-20 c FEATURES Location/Qualifiers source 1..3950 /organism="Homo sapiens" /mol_type="transcribed RNA" /db_xref="taxon:9606" /chromosome="3" /map="3p21.3" gene 1..3950 /gene="LZTFL1" /gene_synonym="BBS17" /note="leucine zipper transcription factor-like 1" /db_xref="GeneID:54585" /db_xref="HGNC:6741" /db_xref="MIM:606568" misc_RNA 1..3950 /gene="LZTFL1" /gene_synonym="BBS17" /product="leucine zipper transcription factor-like 1, transcript variant 4" /db_xref="GeneID:54585" /db_xref="HGNC:6741" /db_xref="MIM:606568" exon 1..170 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 171..365 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 366..426 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 427..498 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 499..564 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 565..642 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 643..819 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" variation 778 /gene="LZTFL1" /gene_synonym="BBS17" /replace="a" /replace="g" /db_xref="dbSNP:1129183" exon 820..923 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" exon 924..3940 /gene="LZTFL1" /gene_synonym="BBS17" /inference="alignment:Splign:1.39.8" polyA_signal 1272..1277 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 1327..1332 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 1382..1387 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 1684..1689 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 2323..2328 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 2727..2732 /gene="LZTFL1" /gene_synonym="BBS17" variation 2890..2891 /gene="LZTFL1" /gene_synonym="BBS17" /replace="" /replace="gtt" /db_xref="dbSNP:3834206" polyA_signal 3166..3171 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 3242..3247 /gene="LZTFL1" /gene_synonym="BBS17" polyA_signal 3246..3251 /gene="LZTFL1" /gene_synonym="BBS17" polyA_site 3265 /gene="LZTFL1" /gene_synonym="BBS17" variation 3742 /gene="LZTFL1" /gene_synonym="BBS17" /replace="a" /replace="g" /db_xref="dbSNP:1058961" polyA_signal 3911..3916 /gene="LZTFL1" /gene_synonym="BBS17" polyA_site 3940 /gene="LZTFL1" /gene_synonym="BBS17" ORIGIN
ataattgcagtccacgtgcctcggtttccgttagcaaccagaggcttctaaacaacctaccctccttccccattttctgtggtccaactaccctcggcgatcccaggcttggcggggcaccgcctggcctctcccgttcctttaggctgccgccgctgcctgccgccatggctggtggaggacaccttcaccatagatgaagtctctgaagtcctcaatggattacaagctgtggttcatagtgaggtggaatctgagctcatcaacactgcctataccaatgtgttacttctgcgacagctgtttgcacaagctgagaagtggtatcttaagctacagacagacatctctgaacttgaaaaccgagaattattagaacaagttgcagaatttgaaaaagcagagattacatcttcaaacaaaaagcccatcttagatgtcacaaagccaaaacttgctccacttaatgaaggtggaacagcagaactcctaaacaaggaaattttaagacttcaagaagagaatgagaaattgaagtcaaggttgaagaccattgaaatacaggctacaaatgcactggatgaaaagtcaaaactagaaaaagcactgcaagatttacagcttgatcaaggaaatcaaaaggattttataaaggcccaagacttaagtaacttagaaaacactgtcgctgccttaaagagtgagtttcagaagacacttaatgacaagacagaaaaccagaagtcactggaggagaatctggcgacagccaagcacgatctactcagggttcaggagcagctgcacatggctgaaaaggaattagaaaagaaatttcagcaaacagcagcttatcgaaacatgaaagagattcttaccaagaagaatgaccaaatcaaagatctgaggaaaagactggcacaatatgaacctgaagattaaaactgaagatttcctctggaagctaccacatgcaaacatacaagcagtctcacctcaggcatgtattttgaaaagcattttgtcatatcccctctccttatttttctaatatttagactttgaatatttagaactagagttcctattttcagctagttgaaaacagagaaaacctagtgattctgtctggtcatcccacacacctctctactgagtgctccagagtcttagctcacatgcactgagaattctttacagcaaagaagagatttttagagtgggaagaagaggcttatccttctgcattagtataaagagtctgtatttttaataaatgttaaataagctaacaatgtttgtacttatgcattccccatgggtaaaaataaataatagcattgttaaagatagttattaccaaaaaaagagagttattacaaataaatatgtctctttatttttaaaaatgaaatcttaattcatttactctatttgatgataaactataaattcattgaaaatgtgaattctattatgggtagcctttttaccaattataaggaaaatttacagcagtgaacatgaacattcacttagcttcctcagtctctccatcttaaagatcatttatcagaggaggttcagcattttttgcagcataacttttcatgagtctgtattactaatggataagtcaaatccatcctgcacttctacagtttagaaagtatctggactcagaataaatgtaatatttatacttgtttccagaatgttattttacattttatgttcaataagaacactttttaaaagacgtatattcaacataaaatcagctatcagacttcagattagactttatttatgtgggtctataataattgtattttcaagaggttttcactatatttgtattggcctggttttctcagacgattttggacaaatcattagaaactgggcatcatatccacagttatgtaaggcagtgatatactataaggataaacaaagtcaagtccataaagcaataatccctcagaaggaaagtccttacttttcacatattaatatttagtaatttttcctgcttctaaaagtgagagtatcacaccctaaatgaacactgtctactaagagacatcattccatttccacaaatgaagattttattccaagaaacgagtttactgattggagcatagggcttgttgttatttttattcaagcttttagtaatagccttgaatttattatttttcttataggctttttgttaaaatagtgaaggaacaaatgttaaagggtaagataatttccctgcaaaaggacacagaaggcagtcttaagaagatgaatggatgagagaagggagagaataaaatgcaataacgagccagcatttactatgtattttctcctcacctgtctctccatatttaggtcacttaccagtttctgtgcccttttggagcttttgttgagggcttcattctcaccctgtatttctttagccctaaattgacactctctccaaaaatccattccattgtctgtggaccaagatgttctatgtaattcagaagcagaactcttggctaaagggctagtgtggccttcagaaaccattcaattattttctccctacacctttgtcagtttgaaaccagtgaggaaaaaaggtatgttgataagaaacctatattgctaggtagaatttgtacttgttttcttggtagcagttttgaaatattctgtacagtacgttcctattgtttaataataaattcaaaaatatttctaaaaccttaaaaccaactatgccaagcattaagataaacaaatatgatgttctttgacgtaaatcaacgtgatgattctttcacatgtaaacacattttagtgtttctggtttgtcatttttgttgttgttgttgttgttgttatttactctataccctttagcaaaatacagttttaaatttttattgtttttagtagtttcccaactttaagacttatctaatttaactgagaaagaaagcctttttcatatatatatatattggatttctaaggatggtggtttgagccttgattagacttttgatgtgctaagccagacaggcagtctgtacattgatggccatcacaatgcagctttggtttaatttaattcaggcctgctgctgagttatgcacagactttttgttgaccaaaataaaatataaagggttttcttctgtttgacatttgtgttcattttttctctttatgtattacattttaacctatattaaataaatgtttaaatgataatttgcttatgtcttataaaactcagcataagaaaaatactgccctaccttgactgtgtaatcttatttgataaagcctttgctattcattatttccattctgattaactgaaagagatttatagagatgctcaaattttaagcccttggtgcttttagatatatattggttgcaaaagtttggcattaatgatttccctctgcttatgtgtaaatgcctatgttccaaagctttgccactagatattcaaatcataaattgtcatgtaagccagtcttccagaaagaaaagctatttcagcaaaatgatatttcacatttagacaaaacagtagtatttagacaataatattttgacaaaaccattttcaaaactgcttaggaaaaaggggaaatattatacttaaaggtaatgacctctgtcttgaatagaggtgagtgggttggtgacaactggtttggaggcttttgtgggggactgtggtgtcttttggattgtgtcatcagctccttcatcaagtaagcgtgtagctgttattgcctattgtaaaacatgaattgatgtgaacagtactcaatctcttacattatatgaagtataacttcctctcttttttgcctataatacatcctttaacttttacagattaaaaaaccactgttagacaaagcaaaaaaaaaaaaaa
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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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