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2024-04-20 17:40:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001276379 4127 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1),
transcript variant 3, mRNA.
ACCESSION NM_001276379
VERSION NM_001276379.1 GI:444909143
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 4127)
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 4127)
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 4127)
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 4127)
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 4127)
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 DC410047.1, AK303416.1,
CN429018.1, 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 (3) contains a distinct 5' UTR,
has multiple coding region differences, and initiates translation
at an alternate start codon compared to variant 1. The encoded
isoform (3) is shorter and has distinct N- and C-termini, 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, ERS025088
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-566 DC410047.1 1-566
567-993 AK303416.1 463-889
994-994 CN429018.1 623-623
995-1376 AK303416.1 891-1272
1377-4107 AC098476.2 173999-176729 c
4108-4127 BX112707.1 1-20 c
FEATURES Location/Qualifiers
source 1..4127
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.3"
gene 1..4127
/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"
misc_feature 315..317
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="upstream in-frame stop codon"
CDS 336..1106
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="isoform 3 is encoded by transcript variant 3;
leucine zipper transcription factor-like protein 1"
/codon_start=1
/product="leucine zipper transcription factor-like protein
1 isoform 3"
/protein_id="NP_001263308.1"
/db_xref="GI:444909144"
/db_xref="GeneID:54585"
/db_xref="HGNC:6741"
/db_xref="MIM:606568"
/translation="
MRNQDPGKMGRQRKSIKLYPTHPLVTFPRSWAKFQEKALLVEDTFTIDEVSEVLNGLQAVVHSEVESELINTAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKAEITSSNKKPILDVTKPKLAPLNEGGTAELLNKEILRLQEENEKLKSRLKTIEIQATNALDEKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKTLNDKTENQKSLEENLATAKHDLLRVQEQLHMAEKI
"
misc_feature <756..1040
/gene="LZTFL1"
/gene_synonym="BBS17"
/note="alanine--tRNA ligase; Region: alaS; TIGR00344"
/db_xref="CDD:161830"
exon 363..451
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 452..646
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 647..707
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 708..779
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 780..845
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 846..923
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
exon 924..1100
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
variation 1059
/gene="LZTFL1"
/gene_synonym="BBS17"
/replace="a"
/replace="g"
/db_xref="dbSNP:1129183"
exon 1101..4117
/gene="LZTFL1"
/gene_synonym="BBS17"
/inference="alignment:Splign:1.39.8"
polyA_signal 1449..1454
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 1504..1509
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 1559..1564
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 1861..1866
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 2500..2505
/gene="LZTFL1"
/gene_synonym="BBS17"
STS 2507..2584
/gene="LZTFL1"
/gene_synonym="BBS17"
/standard_name="SHGC-76871"
/db_xref="UniSTS:71193"
polyA_signal 2904..2909
/gene="LZTFL1"
/gene_synonym="BBS17"
variation 3067..3068
/gene="LZTFL1"
/gene_synonym="BBS17"
/replace=""
/replace="gtt"
/db_xref="dbSNP:3834206"
STS 3212..3294
/gene="LZTFL1"
/gene_synonym="BBS17"
/standard_name="SHGC-76894"
/db_xref="UniSTS:20426"
STS 3239..3340
/gene="LZTFL1"
/gene_synonym="BBS17"
/standard_name="WI-19320"
/db_xref="UniSTS:55049"
polyA_signal 3343..3348
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 3419..3424
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_signal 3423..3428
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_site 3442
/gene="LZTFL1"
/gene_synonym="BBS17"
variation 3919
/gene="LZTFL1"
/gene_synonym="BBS17"
/replace="a"
/replace="g"
/db_xref="dbSNP:1058961"
polyA_signal 4088..4093
/gene="LZTFL1"
/gene_synonym="BBS17"
polyA_site 4117
/gene="LZTFL1"
/gene_synonym="BBS17"
ORIGIN
acacctcccaccatgctggcactgaggttatctaagagttgacagccccatctaaagccttgaatgaattaagtcttttttagctaaaaaatgaacaaaacctgagatgcatgagtgtccttaccaaaaggaagtccttgtttctaggacaggtctgtcttcgggcctgtgggtccatagaatcatcacagaaaaaatgatttcaggaggtctcccccgctttctgctcccaaggccgactctgactgagcctcggaggagagaaggaagccatttctgggaggccaaaacgtccgtcttccaggctcttgctgtaagtcagcccacttttacagatgaggaaccaagacccagggaagatgggaaggcagagaaaatccatcaagttgtaccctacccaccctttggtgacttttccaagaagctgggctaagttccaggagaaagctctgctggtggaggacaccttcaccatagatgaagtctctgaagtcctcaatggattacaagctgtggttcatagtgaggtggaatctgagctcatcaacactgcctataccaatgtgttacttctgcgacagctgtttgcacaagctgagaagtggtatcttaagctacagacagacatctctgaacttgaaaaccgagaattattagaacaagttgcagaatttgaaaaagcagagattacatcttcaaacaaaaagcccatcttagatgtcacaaagccaaaacttgctccacttaatgaaggtggaacagcagaactcctaaacaaggaaattttaagacttcaagaagagaatgagaaattgaagtcaaggttgaagaccattgaaatacaggctacaaatgcactggatgaaaagtcaaaactagaaaaagcactgcaagatttacagcttgatcaaggaaatcaaaaggattttataaaggcccaagacttaagtaacttagaaaacactgtcgctgccttaaagagtgagtttcagaagacacttaatgacaagacagaaaaccagaagtcactggaggagaatctggcgacagccaagcacgatctactcagggttcaggagcagctgcacatggctgaaaagatatgaacctgaagattaaaactgaagatttcctctggaagctaccacatgcaaacatacaagcagtctcacctcaggcatgtattttgaaaagcattttgtcatatcccctctccttatttttctaatatttagactttgaatatttagaactagagttcctattttcagctagttgaaaacagagaaaacctagtgattctgtctggtcatcccacacacctctctactgagtgctccagagtcttagctcacatgcactgagaattctttacagcaaagaagagatttttagagtgggaagaagaggcttatccttctgcattagtataaagagtctgtatttttaataaatgttaaataagctaacaatgtttgtacttatgcattccccatgggtaaaaataaataatagcattgttaaagatagttattaccaaaaaaagagagttattacaaataaatatgtctctttatttttaaaaatgaaatcttaattcatttactctatttgatgataaactataaattcattgaaaatgtgaattctattatgggtagcctttttaccaattataaggaaaatttacagcagtgaacatgaacattcacttagcttcctcagtctctccatcttaaagatcatttatcagaggaggttcagcattttttgcagcataacttttcatgagtctgtattactaatggataagtcaaatccatcctgcacttctacagtttagaaagtatctggactcagaataaatgtaatatttatacttgtttccagaatgttattttacattttatgttcaataagaacactttttaaaagacgtatattcaacataaaatcagctatcagacttcagattagactttatttatgtgggtctataataattgtattttcaagaggttttcactatatttgtattggcctggttttctcagacgattttggacaaatcattagaaactgggcatcatatccacagttatgtaaggcagtgatatactataaggataaacaaagtcaagtccataaagcaataatccctcagaaggaaagtccttacttttcacatattaatatttagtaatttttcctgcttctaaaagtgagagtatcacaccctaaatgaacactgtctactaagagacatcattccatttccacaaatgaagattttattccaagaaacgagtttactgattggagcatagggcttgttgttatttttattcaagcttttagtaatagccttgaatttattatttttcttataggctttttgttaaaatagtgaaggaacaaatgttaaagggtaagataatttccctgcaaaaggacacagaaggcagtcttaagaagatgaatggatgagagaagggagagaataaaatgcaataacgagccagcatttactatgtattttctcctcacctgtctctccatatttaggtcacttaccagtttctgtgcccttttggagcttttgttgagggcttcattctcaccctgtatttctttagccctaaattgacactctctccaaaaatccattccattgtctgtggaccaagatgttctatgtaattcagaagcagaactcttggctaaagggctagtgtggccttcagaaaccattcaattattttctccctacacctttgtcagtttgaaaccagtgaggaaaaaaggtatgttgataagaaacctatattgctaggtagaatttgtacttgttttcttggtagcagttttgaaatattctgtacagtacgttcctattgtttaataataaattcaaaaatatttctaaaaccttaaaaccaactatgccaagcattaagataaacaaatatgatgttctttgacgtaaatcaacgtgatgattctttcacatgtaaacacattttagtgtttctggtttgtcatttttgttgttgttgttgttgttgttatttactctataccctttagcaaaatacagttttaaatttttattgtttttagtagtttcccaactttaagacttatctaatttaactgagaaagaaagcctttttcatatatatatatattggatttctaaggatggtggtttgagccttgattagacttttgatgtgctaagccagacaggcagtctgtacattgatggccatcacaatgcagctttggtttaatttaattcaggcctgctgctgagttatgcacagactttttgttgaccaaaataaaatataaagggttttcttctgtttgacatttgtgttcattttttctctttatgtattacattttaacctatattaaataaatgtttaaatgataatttgcttatgtcttataaaactcagcataagaaaaatactgccctaccttgactgtgtaatcttatttgataaagcctttgctattcattatttccattctgattaactgaaagagatttatagagatgctcaaattttaagcccttggtgcttttagatatatattggttgcaaaagtttggcattaatgatttccctctgcttatgtgtaaatgcctatgttccaaagctttgccactagatattcaaatcataaattgtcatgtaagccagtcttccagaaagaaaagctatttcagcaaaatgatatttcacatttagacaaaacagtagtatttagacaataatattttgacaaaaccattttcaaaactgcttaggaaaaaggggaaatattatacttaaaggtaatgacctctgtcttgaatagaggtgagtgggttggtgacaactggtttggaggcttttgtgggggactgtggtgtcttttggattgtgtcatcagctccttcatcaagtaagcgtgtagctgttattgcctattgtaaaacatgaattgatgtgaacagtactcaatctcttacattatatgaagtataacttcctctcttttttgcctataatacatcctttaacttttacagattaaaaaaccactgttagacaaagcaaaaaaaaaaaaaa
//
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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