2024-03-29 17:16:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_138722 1886 bp mRNA linear PRI 26-MAY-2013 DEFINITION Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 1, mRNA. ACCESSION NM_138722 VERSION NM_138722.1 GI:21040327 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 1886) AUTHORS Al-Shehhi,H., Konn,Z.J., Schwab,C.J., Erhorn,A., Barber,K.E., Wright,S.L., Gabriel,A.S., Harrison,C.J. and Moorman,A.V. TITLE Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia JOURNAL Genes Chromosomes Cancer 52 (2), 202-213 (2013) PUBMED 23077088 REMARK GeneRIF: Data indicate that LRP6, BCL2L14, DUSP16, CREBL2, and CDKN1B were involed in centromeric (12p11.21-12p13.2) deletion in ETV6-RUNX1 B-cell precursor acute lymphoblastic leukemia (BCP-ALL). REFERENCE 2 (bases 1 to 1886) AUTHORS Spitz,M.R., Gorlov,I.P., Dong,Q., Wu,X., Chen,W., Chang,D.W., Etzel,C.J., Caporaso,N.E., Zhao,Y., Christiani,D.C., Brennan,P., Albanes,D., Shi,J., Thun,M., Landi,M.T. and Amos,C.I. TITLE Multistage analysis of variants in the inflammation pathway and lung cancer risk in smokers JOURNAL Cancer Epidemiol. Biomarkers Prev. 21 (7), 1213-1221 (2012) PUBMED 22573796 REMARK GeneRIF: Single nucleotide polymorphism in BCL2L14 is associated with lung cancer. REFERENCE 3 (bases 1 to 1886) AUTHORS Pickard,M.R., Mourtada-Maarabouni,M. and Williams,G.T. TITLE Candidate tumour suppressor Fau regulates apoptosis in human cells: an essential role for Bcl-G JOURNAL Biochim. Biophys. Acta 1812 (9), 1146-1153 (2011) PUBMED 21550398 REMARK GeneRIF: prior knockdown of Bcl-G expression ablates the stimulation of basal apoptosis by FAU, consistent with an essential downstream role for Bcl-G, itself a candidate tumour suppressor, in mediating the apoptosis regulatory role of FAU. REFERENCE 4 (bases 1 to 1886) AUTHORS Kelly,J.L., Novak,A.J., Fredericksen,Z.S., Liebow,M., Ansell,S.M., Dogan,A., Wang,A.H., Witzig,T.E., Call,T.G., Kay,N.E., Habermann,T.M., Slager,S.L. and Cerhan,J.R. TITLE Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (11), 2847-2858 (2010) PUBMED 20855536 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 1886) AUTHORS Liu,X., Pan,Z., Zhang,L., Sun,Q., Wan,J., Tian,C., Xing,G., Yang,J., Liu,X., Jiang,J. and He,F. TITLE JAB1 accelerates mitochondrial apoptosis by interaction with proapoptotic BclGs JOURNAL Cell. Signal. 20 (1), 230-240 (2008) PUBMED 18006276 REMARK GeneRIF: JAB1 is involved in the regulation of mitochondrial apoptotic pathway through specific interaction with BclGs. REFERENCE 6 (bases 1 to 1886) AUTHORS Montpetit,A., Larose,J., Boily,G., Langlois,S., Trudel,N. and Sinnett,D. TITLE Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia JOURNAL Leukemia 18 (9), 1499-1504 (2004) PUBMED 15284860 REFERENCE 7 (bases 1 to 1886) AUTHORS Kutsenko,A.S., Gizatullin,R.Z., Al-Amin,A.N., Wang,F., Kvasha,S.M., Podowski,R.M., Matushkin,Y.G., Gyanchandani,A., Muravenko,O.V., Levitsky,V.G., Kolchanov,N.A., Protopopov,A.I., Kashuba,V.I., Kisselev,L.L., Wasserman,W., Wahlestedt,C. and Zabarovsky,E.R. TITLE NotI flanking sequences: a tool for gene discovery and verification of the human genome JOURNAL Nucleic Acids Res. 30 (14), 3163-3170 (2002) PUBMED 12136098 REFERENCE 8 (bases 1 to 1886) AUTHORS Montpetit,A., Boily,G. and Sinnett,D. TITLE A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus JOURNAL Eur. J. Hum. Genet. 10 (1), 62-71 (2002) PUBMED 11896457 REFERENCE 9 (bases 1 to 1886) AUTHORS Ozalp,S.S., Yalcin,O.T., Tanir,H.M., Dundar,E. and Yildirim,S. TITLE Bcl-2 expression in preinvasive and invasive cervical lesions JOURNAL Eur. J. Gynaecol. Oncol. 23 (5), 419-422 (2002) PUBMED 12440815 REFERENCE 10 (bases 1 to 1886) AUTHORS Guo,B., Godzik,A. and Reed,J.C. TITLE Bcl-G, a novel pro-apoptotic member of the Bcl-2 family JOURNAL J. Biol. Chem. 276 (4), 2780-2785 (2001) PUBMED 11054413 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF281254.1. Summary: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]. Transcript Variant: This variant (1) is also known as BCL-G long form. It encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF281254.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..1886 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12p13-p12" gene 1..1886 /gene="BCL2L14" /gene_synonym="BCLG" /note="BCL2-like 14 (apoptosis facilitator)" /db_xref="GeneID:79370" /db_xref="HGNC:16657" /db_xref="HPRD:05841" /db_xref="MIM:606126" exon 1..188 /gene="BCL2L14" /gene_synonym="BCLG" /inference="alignment:Splign:1.39.8" variation 83 /gene="BCL2L14" /gene_synonym="BCLG" /replace="g" /replace="t" /db_xref="dbSNP:75691667" misc_feature 97..99 /gene="BCL2L14" /gene_synonym="BCLG" /note="upstream in-frame stop codon" variation 142 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:2287154" variation 171 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="c" /db_xref="dbSNP:377313330" exon 189..628 /gene="BCL2L14" /gene_synonym="BCLG" /inference="alignment:Splign:1.39.8" CDS 196..1179 /gene="BCL2L14" /gene_synonym="BCLG" /note="isoform 1 is encoded by transcript variant 1; apoptosis regulator BCL-G; apoptosis facilitator Bcl-2-like protein 14; bcl2-L-14" /codon_start=1 /product="apoptosis facilitator Bcl-2-like protein 14 isoform 1" /protein_id="NP_620048.1" /db_xref="GI:21040328" /db_xref="CCDS:CCDS8645.1" /db_xref="GeneID:79370" /db_xref="HGNC:16657" /db_xref="HPRD:05841" /db_xref="MIM:606126" /translation="
MCSTSGCDLEEIPLDDDDLNTIEFKILAYYTRHHVFKSTPALFSPKLLRTRSLSQRGLGNCSANESWTEVSWPCRNSQSSEKAINLGKKKSSWKAFFGVVEKEDSQSTPAKVSAQGQRTLEYQDSHSQQWSRCLSNVEQCLEHEAVDPKVISIANRVAEIVYSWPPPQATQAGGFKSKEIFVTEGLSFQLQGHVPVASSSKKDEEEQILAKIVELLKYSGDQLERKLKKDKALMGHFQDGLSYSVFKTITDQVLMGVDPRGESEVKAQGFKAALVIDVTAKLTAIDNHPMNRVLGFGTKYLKENFSPWIQQHGGWEKILGISHEEVD
" misc_feature 748..1152 /gene="BCL2L14" /gene_synonym="BCLG" /note="Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane...; Region: Bcl-2_like; cl02575" /db_xref="CDD:207655" misc_feature 829..873 /gene="BCL2L14" /gene_synonym="BCLG" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9BZR8.1); Region: BH3" misc_feature 841..867 /gene="BCL2L14" /gene_synonym="BCLG" /note="BH3; other site" /db_xref="CDD:132900" misc_feature order(850..855,859..864,874..876,925..930,937..942, 949..954,994..996,1000..1005,1009..1014,1027..1029, 1039..1041) /gene="BCL2L14" /gene_synonym="BCLG" /note="BH3-homology region binding site; other site" /db_xref="CDD:132900" misc_feature order(949..957,991..1017,1021..1032) /gene="BCL2L14" /gene_synonym="BCLG" /note="BH1; other site" /db_xref="CDD:132900" misc_feature 1114..1152 /gene="BCL2L14" /gene_synonym="BCLG" /note="BH2; other site" /db_xref="CDD:132900" misc_feature 1117..1140 /gene="BCL2L14" /gene_synonym="BCLG" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9BZR8.1); Region: BH2" variation 203 /gene="BCL2L14" /gene_synonym="BCLG" /replace="g" /replace="t" /db_xref="dbSNP:59599134" variation 213 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="g" /db_xref="dbSNP:139406698" variation 239 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:61733244" variation 241 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="g" /db_xref="dbSNP:370415348" variation 260 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:61733245" variation 276 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:61733246" variation 277 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:142096906" variation 295 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:141156172" variation 350 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:376083367" variation 352 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:142250889" variation 362 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:371514083" variation 366 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:374164865" variation 377 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="g" /db_xref="dbSNP:368530005" variation 402 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:61733247" variation 409 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:140584428" variation 503 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:371624447" variation 510 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:138260830" variation 511 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:376032131" variation 519 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:186696253" variation 522 /gene="BCL2L14" /gene_synonym="BCLG" /replace="g" /replace="t" /db_xref="dbSNP:367663061" variation 545 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:141892443" variation 551 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:149592138" variation 589 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="c" /db_xref="dbSNP:3815568" variation 603 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:61729499" variation 604 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:200779523" variation 622 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="c" /db_xref="dbSNP:372836511" exon 629..802 /gene="BCL2L14" /gene_synonym="BCLG" /inference="alignment:Splign:1.39.8" variation 640 /gene="BCL2L14" /gene_synonym="BCLG" /replace="g" /replace="t" /db_xref="dbSNP:2416948" variation 652 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:138853585" variation 681 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:879732" variation 764..765 /gene="BCL2L14" /gene_synonym="BCLG" /replace="" /replace="c" /db_xref="dbSNP:36104369" variation 767 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:113665428" variation 776 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:375463687" variation 779 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:369864408" variation 781 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:17819796" variation 782 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="t" /db_xref="dbSNP:139476893" variation 783 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:139420279" exon 803..873 /gene="BCL2L14" /gene_synonym="BCLG" /inference="alignment:Splign:1.39.8" variation 808 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:141761714" variation 819 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:150568064" exon 874..1140 /gene="BCL2L14" /gene_synonym="BCLG" /inference="alignment:Splign:1.39.8" variation 892 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:11054683" variation 942 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="g" /db_xref="dbSNP:370468556" variation 970 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="c" /db_xref="dbSNP:61738409" variation 977 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:148640639" variation 996 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:139549265" variation 1025 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:202089461" variation 1026 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="c" /db_xref="dbSNP:145041635" variation 1027 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:147550863" variation 1032 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:61753207" variation 1033 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:201867584" variation 1069 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="t" /db_xref="dbSNP:61739220" variation 1089 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:367766873" variation 1112 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:73053321" variation 1125 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:372228342" exon 1141..1886 /gene="BCL2L14" /gene_synonym="BCLG" /inference="alignment:Splign:1.39.8" variation 1185 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="g" /db_xref="dbSNP:376810924" variation 1207 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="g" /db_xref="dbSNP:368337681" variation 1299 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:150017586" variation 1319 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:369077886" variation 1335 /gene="BCL2L14" /gene_synonym="BCLG" /replace="g" /replace="t" /db_xref="dbSNP:1797647" variation 1338 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:185276807" variation 1370 /gene="BCL2L14" /gene_synonym="BCLG" /replace="g" /replace="t" /db_xref="dbSNP:367916967" STS 1405..1554 /gene="BCL2L14" /gene_synonym="BCLG" /standard_name="WI-16673" /db_xref="UniSTS:71275" variation 1517 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="t" /db_xref="dbSNP:146725411" variation 1534 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:140363991" variation 1570 /gene="BCL2L14" /gene_synonym="BCLG" /replace="a" /replace="g" /db_xref="dbSNP:201488916" variation 1784 /gene="BCL2L14" /gene_synonym="BCLG" /replace="" /replace="c" /db_xref="dbSNP:370512417" polyA_signal 1857..1862 /gene="BCL2L14" /gene_synonym="BCLG" variation 1867 /gene="BCL2L14" /gene_synonym="BCLG" /replace="c" /replace="t" /db_xref="dbSNP:190517309" polyA_site 1886 /gene="BCL2L14" /gene_synonym="BCLG" /experiment="experimental evidence, no additional details recorded" ORIGIN
aatgacatgacagccattccgtggccagggacaccactgcccaagctggagaccacgaggattcagggactgaagccagcatgggaattcctggtttgagatcagagtcctgagtacctcgtgggaacttgggcactcatccgcaggaggtctagacccccagagaattccttgagtctaaggcacaggcccaacatgtgtagcaccagtgggtgtgacctggaagaaatccccctagatgatgatgacctaaacaccatagaattcaaaatcctcgcctactacaccagacatcatgtcttcaagagcacccctgctctcttctcaccaaagctgctgagaacaagaagtttgtcccagaggggcctggggaattgttcagcaaatgagtcatggacagaggtgtcatggccttgcagaaattcccaatccagtgagaaggccataaaccttggcaagaaaaagtcttcttggaaagcattctttggagtagtggagaaggaagattcgcagagcacgcctgccaaggtctctgctcagggtcaaaggacgttggaataccaagattcgcacagccagcagtggtccaggtgtctttctaacgtggagcagtgcttggagcatgaagctgtggaccccaaagtcatttccattgccaaccgagtagctgaaattgtttactcctggccaccaccacaagcgacccaggcaggaggcttcaagtccaaagagatttttgtaactgagggtctctccttccagctccaaggccacgtgcctgtagcttcaagttctaagaaagatgaagaagaacaaatactagccaaaattgttgagctgctgaaatattcaggagatcagttggaaagaaagctgaagaaagataaggctttgatgggccacttccaggatgggctgtcctactctgttttcaagaccatcacagaccaggtcctaatgggtgtggaccccaggggagaatcagaggtcaaagctcagggctttaaggctgcccttgtaatagacgtcacggccaagctcacagctattgacaaccacccgatgaacagggtcctgggctttggcaccaagtacctgaaagagaacttctcgccatggatccagcagcacggtggatgggaaaaaatacttgggatatcacatgaagaagtagactgaaatatcagatttgtcatcaggaatactctttgtctactgtggtcctgtgcacgttggcctcagatggactacaggagattacaacgtacaaggcagatggagcattgacgttttcaaaaccattattcctgtgactggagaggcatcaggagaggtctcgttcgtctccagctcataaaatgtagcagcatcatccttgacagtgatgtttttcaggccctccattgagaacctgaggaaatctgtaaagataagtggtgatgttgtttcaaacgttcagaacagataccatcatcctgcctttgttagctgctgtagggaaagtgcgttacagatgtctgctgacctcacaagagtgaaaagataaactgtgcatgtgtttccacttccgtttctagtactatttatttttaaactacacttggggtggcctaatacctaggaagatgttgctattcacgttagtaaacagcctaaagaaactcttaggtttactgctacatccatttgtttggagaggtaactgttgtctgtgcctttttgaaaaacttccatttggtacaaaatttttactccaacaccccctcaacccttttctcagggaccacacctcttcttcccaaggtccctgggacttcctcattctttgtggtagtacaatgattggtagcaggtaaaataaatacatagaaagactactgtcaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79370 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:79370 -> Molecular function: GO:0019901 [protein kinase binding] evidence: IPI GeneID:79370 -> Biological process: GO:0006915 [apoptotic process] evidence: IDA GeneID:79370 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: IEA GeneID:79370 -> Biological process: GO:2001238 [positive regulation of extrinsic apoptotic signaling pathway] evidence: IDA GeneID:79370 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:79370 -> Cellular component: GO:0005829 [cytosol] evidence: IDA GeneID:79370 -> Cellular component: GO:0012505 [endomembrane system] evidence: IEA GeneID:79370 -> Cellular component: GO:0016020 [membrane] evidence: IEA GeneID:79370 -> Cellular component: GO:0043229 [intracellular organelle] evidence: IDA
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