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2024-04-19 11:30:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276378 4356 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1),
transcript variant 2, mRNA.
ACCESSION NM_001276378
VERSION NM_001276378.1 GI:444909141
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 4356)
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 4356)
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 4356)
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 4356)
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 4356)
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 AK093705.1, 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 (2) contains a distinct 5' UTR and
has multiple coding region differences, compared to variant 1.
These differences cause translation initiation at a downstream
in-frame AUG and result in an isoform (2) with a shorter
N-terminus, compared to 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##
RNAseq introns :: mixed/partial sample support ERS025084
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1696 AK093705.1 319-2014
1697-4336 AC098476.2 173999-176638 c
4337-4356 BX112707.1 1-20 c
FEATURES Location/Qualifiers
source 1..4356
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.3"
gene 1..4356
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="leucine zipper transcription factor-like 1"
/db_xref="GeneID:54585"
/db_xref="HGNC:6741"
/db_xref="MIM:606568"
exon 1..304
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 305..362
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 363..451
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
misc_feature 431..433
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="upstream in-frame stop codon"
exon 452..576
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
CDS 500..1348
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="isoform 2 is encoded by transcript variant 2;
leucine zipper transcription factor-like protein 1"
/codon_start=1
/product="leucine zipper transcription factor-like protein
1 isoform 2"
/protein_id="NP_001263307.1"
/db_xref="GI:444909142"
/db_xref="GeneID:54585"
/db_xref="HGNC:6741"
/db_xref="MIM:606568"
/translation="
MRFARSKRGLRLKTVDSCFQDLKESRLVEDTFTIDEVSEVLNGLQAVVHSEVESELINTAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKAEITSSNKKPILDVTKPKLAPLNEGGTAELLNKEILRLQEENEKLKSRLKTIEIQATNALDEKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKTLNDKTENQKSLEENLATAKHDLLRVQEQLHMAEKELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED
"
misc_feature <896..>1330
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="chromosome segregation protein SMC, common
bacterial type; Region: SMC_prok_B; TIGR02168"
/db_xref="CDD:162739"
exon 577..771
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 772..832
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 833..904
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 905..970
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 971..1048
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 1049..1225
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
variation 1184
/gene="LZTFL1"
/gene_synonym="BBS17"
/replace="a"
/replace="g"
/db_xref="dbSNP:1129183"
exon 1226..1329
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 1330..4346
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
polyA_signal 1678..1683
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 1733..1738
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 1788..1793
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 2090..2095
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 2729..2734
/gene="LZTFL1"
/gene_synonym="BBS17"
STS 2736..2813
/gene="LZTFL1"
/gene_synonym="BBS17"
/standard_name="SHGC-76871"
/db_xref="UniSTS:71193"
polyA_signal 3133..3138
/gene="LZTFL1"
/gene_synonym="BBS17"
variation 3296..3297
/gene="LZTFL1"
/gene_synonym="BBS17"
/replace=""
/replace="gtt"
/db_xref="dbSNP:3834206"
STS 3441..3523
/gene="LZTFL1"
/gene_synonym="BBS17"
/standard_name="SHGC-76894"
/db_xref="UniSTS:20426"
STS 3468..3569
/gene="LZTFL1"
/gene_synonym="BBS17"
/standard_name="WI-19320"
/db_xref="UniSTS:55049"
polyA_signal 3572..3577
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 3648..3653
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 3652..3657
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_site 3671
/gene="LZTFL1"
/gene_synonym="BBS17"
variation 4148
/gene="LZTFL1"
/gene_synonym="BBS17"
/replace="a"
/replace="g"
/db_xref="dbSNP:1058961"
polyA_signal 4317..4322
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_site 4346
/gene="LZTFL1"
/gene_synonym="BBS17"
ORIGIN
acacctcccaccatgctggcactgaggttatctaagagttgacagccccatctaaagccttgaatgaattaagtcttttttagctaaaaaatgaacaaaacctgagatgcatgagtgtccttaccaaaaggaagtccttgtttctaggacaggtctgtcttcgggcctgtgggtccatagaatcatcacagaaaaaatgatttcaggaggtctcccccgctttctgctcccaaggccgactctgactgagcctcggaggagagaaggaagccatttctgggaggccaaaacgtccgtcttccaggctcttgctgtaagtcagcccacttttacagatgaggaaccaagacccagggaagatgggaaggcagagaaaatccatcaagttgtaccctacccaccctttggtgacttttccaagaagctgggctaagttccaggagaaagctctgcagagttgggcctaaatgagcaccatcaaaatgaagttattaattatatgcgttttgctcgttcaaagagaggcttgagactcaaaactgtagattcctgcttccaagacctcaaggagagcaggctggtggaggacaccttcaccatagatgaagtctctgaagtcctcaatggattacaagctgtggttcatagtgaggtggaatctgagctcatcaacactgcctataccaatgtgttacttctgcgacagctgtttgcacaagctgagaagtggtatcttaagctacagacagacatctctgaacttgaaaaccgagaattattagaacaagttgcagaatttgaaaaagcagagattacatcttcaaacaaaaagcccatcttagatgtcacaaagccaaaacttgctccacttaatgaaggtggaacagcagaactcctaaacaaggaaattttaagacttcaagaagagaatgagaaattgaagtcaaggttgaagaccattgaaatacaggctacaaatgcactggatgaaaagtcaaaactagaaaaagcactgcaagatttacagcttgatcaaggaaatcaaaaggattttataaaggcccaagacttaagtaacttagaaaacactgtcgctgccttaaagagtgagtttcagaagacacttaatgacaagacagaaaaccagaagtcactggaggagaatctggcgacagccaagcacgatctactcagggttcaggagcagctgcacatggctgaaaaggaattagaaaagaaatttcagcaaacagcagcttatcgaaacatgaaagagattcttaccaagaagaatgaccaaatcaaagatctgaggaaaagactggcacaatatgaacctgaagattaaaactgaagatttcctctggaagctaccacatgcaaacatacaagcagtctcacctcaggcatgtattttgaaaagcattttgtcatatcccctctccttatttttctaatatttagactttgaatatttagaactagagttcctattttcagctagttgaaaacagagaaaacctagtgattctgtctggtcatcccacacacctctctactgagtgctccagagtcttagctcacatgcactgagaattctttacagcaaagaagagatttttagagtgggaagaagaggcttatccttctgcattagtataaagagtctgtatttttaataaatgttaaataagctaacaatgtttgtacttatgcattccccatgggtaaaaataaataatagcattgttaaagatagttattaccaaaaaaagagagttattacaaataaatatgtctctttatttttaaaaatgaaatcttaattcatttactctatttgatgataaactataaattcattgaaaatgtgaattctattatgggtagcctttttaccaattataaggaaaatttacagcagtgaacatgaacattcacttagcttcctcagtctctccatcttaaagatcatttatcagaggaggttcagcattttttgcagcataacttttcatgagtctgtattactaatggataagtcaaatccatcctgcacttctacagtttagaaagtatctggactcagaataaatgtaatatttatacttgtttccagaatgttattttacattttatgttcaataagaacactttttaaaagacgtatattcaacataaaatcagctatcagacttcagattagactttatttatgtgggtctataataattgtattttcaagaggttttcactatatttgtattggcctggttttctcagacgattttggacaaatcattagaaactgggcatcatatccacagttatgtaaggcagtgatatactataaggataaacaaagtcaagtccataaagcaataatccctcagaaggaaagtccttacttttcacatattaatatttagtaatttttcctgcttctaaaagtgagagtatcacaccctaaatgaacactgtctactaagagacatcattccatttccacaaatgaagattttattccaagaaacgagtttactgattggagcatagggcttgttgttatttttattcaagcttttagtaatagccttgaatttattatttttcttataggctttttgttaaaatagtgaaggaacaaatgttaaagggtaagataatttccctgcaaaaggacacagaaggcagtcttaagaagatgaatggatgagagaagggagagaataaaatgcaataacgagccagcatttactatgtattttctcctcacctgtctctccatatttaggtcacttaccagtttctgtgcccttttggagcttttgttgagggcttcattctcaccctgtatttctttagccctaaattgacactctctccaaaaatccattccattgtctgtggaccaagatgttctatgtaattcagaagcagaactcttggctaaagggctagtgtggccttcagaaaccattcaattattttctccctacacctttgtcagtttgaaaccagtgaggaaaaaaggtatgttgataagaaacctatattgctaggtagaatttgtacttgttttcttggtagcagttttgaaatattctgtacagtacgttcctattgtttaataataaattcaaaaatatttctaaaaccttaaaaccaactatgccaagcattaagataaacaaatatgatgttctttgacgtaaatcaacgtgatgattctttcacatgtaaacacattttagtgtttctggtttgtcatttttgttgttgttgttgttgttgttatttactctataccctttagcaaaatacagttttaaatttttattgtttttagtagtttcccaactttaagacttatctaatttaactgagaaagaaagcctttttcatatatatatatattggatttctaaggatggtggtttgagccttgattagacttttgatgtgctaagccagacaggcagtctgtacattgatggccatcacaatgcagctttggtttaatttaattcaggcctgctgctgagttatgcacagactttttgttgaccaaaataaaatataaagggttttcttctgtttgacatttgtgttcattttttctctttatgtattacattttaacctatattaaataaatgtttaaatgataatttgcttatgtcttataaaactcagcataagaaaaatactgccctaccttgactgtgtaatcttatttgataaagcctttgctattcattatttccattctgattaactgaaagagatttatagagatgctcaaattttaagcccttggtgcttttagatatatattggttgcaaaagtttggcattaatgatttccctctgcttatgtgtaaatgcctatgttccaaagctttgccactagatattcaaatcataaattgtcatgtaagccagtcttccagaaagaaaagctatttcagcaaaatgatatttcacatttagacaaaacagtagtatttagacaataatattttgacaaaaccattttcaaaactgcttaggaaaaaggggaaatattatacttaaaggtaatgacctctgtcttgaatagaggtgagtgggttggtgacaactggtttggaggcttttgtgggggactgtggtgtcttttggattgtgtcatcagctccttcatcaagtaagcgtgtagctgttattgcctattgtaaaacatgaattgatgtgaacagtactcaatctcttacattatatgaagtataacttcctctcttttttgcctataatacatcctttaacttttacagattaaaaaaccactgttagacaaagcaaaaaaaaaaaaaa
//
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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