2024-04-19 19:11:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001204113 958 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 18, mRNA. ACCESSION NM_001204113 VERSION NM_001204113.1 GI:323362972 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 958) AUTHORS Hara,H., Takeda,T., Yamamoto,N., Furuya,K., Hirose,K., Kamiya,T. and Adachi,T. TITLE Zinc-induced modulation of SRSF6 activity alters Bim splicing to promote generation of the most potent apoptotic isoform BimS JOURNAL FEBS J. 280 (14), 3313-3327 (2013) PUBMED 23648111 REFERENCE 2 (bases 1 to 958) AUTHORS Ha Thi,H.T., Lim,H.S., Kim,J., Kim,Y.M., Kim,H.Y. and Hong,S. TITLE Transcriptional and post-translational regulation of Bim is essential for TGF-beta and TNF-alpha-induced apoptosis of gastric cancer cell JOURNAL Biochim. Biophys. Acta 1830 (6), 3584-3592 (2013) PUBMED 23500081 REFERENCE 3 (bases 1 to 958) AUTHORS Piazza,R., Magistroni,V., Mogavero,A., Andreoni,F., Ambrogio,C., Chiarle,R., Mologni,L., Bachmann,P.S., Lock,R.B., Collini,P., Pelosi,G. and Gambacorti-Passerini,C. TITLE Epigenetic silencing of the proapoptotic gene BIM in anaplastic large cell lymphoma through an MeCP2/SIN3a deacetylating complex JOURNAL Neoplasia 15 (5), 511-522 (2013) PUBMED 23633923 REFERENCE 4 (bases 1 to 958) AUTHORS Bean,G.R., Ganesan,Y.T., Dong,Y., Takeda,S., Liu,H., Chan,P.M., Huang,Y., Chodosh,L.A., Zambetti,G.P., Hsieh,J.J. and Cheng,E.H. TITLE PUMA and BIM are required for oncogene inactivation-induced apoptosis JOURNAL Sci Signal 6 (268), RA20 (2013) PUBMED 23532334 REMARK Publication Status: Online-Only REFERENCE 5 (bases 1 to 958) AUTHORS Sharma,A., Singh,K., Mazumder,S., Hill,B.T., Kalaycio,M. and Almasan,A. TITLE BECN1 and BIM interactions with MCL-1 determine fludarabine resistance in leukemic B cells JOURNAL Cell Death Dis 4, E628 (2013) PUBMED 23681223 REMARK Publication Status: Online-Only REFERENCE 6 (bases 1 to 958) AUTHORS Ng,K.P., Hillmer,A.M., Chuah,C.T., Juan,W.C., Ko,T.K., Teo,A.S., Ariyaratne,P.N., Takahashi,N., Sawada,K., Fei,Y., Soh,S., Lee,W.H., Huang,J.W., Allen,J.C. Jr., Woo,X.Y., Nagarajan,N., Kumar,V., Thalamuthu,A., Poh,W.T., Ang,A.L., Mya,H.T., How,G.F., Yang,L.Y., Koh,L.P., Chowbay,B., Chang,C.T., Nadarajan,V.S., Chng,W.J., Than,H., Lim,L.C., Goh,Y.T., Zhang,S., Poh,D., Tan,P., Seet,J.E., Ang,M.K., Chau,N.M., Ng,Q.S., Tan,D.S., Soda,M., Isobe,K., Nothen,M.M., Wong,T.Y., Shahab,A., Ruan,X., Cacheux-Rataboul,V., Sung,W.K., Tan,E.H., Yatabe,Y., Mano,H., Soo,R.A., Chin,T.M., Lim,W.T., Ruan,Y. and Ong,S.T. TITLE A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer JOURNAL Nat. Med. 18 (4), 521-528 (2012) PUBMED 22426421 REMARK GeneRIF: the heterogeneity of tyrosine kinase inhibitors responses across individuals and suggest the possibility of personalizing therapy with BH3 mimetics to overcome BIM-polymorphism-associated tyrosine kinase inhibitors resistance. Publication Status: Online-Only REFERENCE 7 (bases 1 to 958) AUTHORS Huang,D.C., Adams,J.M. and Cory,S. TITLE The conserved N-terminal BH4 domain of Bcl-2 homologues is essential for inhibition of apoptosis and interaction with CED-4 JOURNAL EMBO J. 17 (4), 1029-1039 (1998) PUBMED 9463381 REFERENCE 8 (bases 1 to 958) AUTHORS O'Connor,L., Strasser,A., O'Reilly,L.A., Hausmann,G., Adams,J.M., Cory,S. and Huang,D.C. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J. 17 (2), 384-395 (1998) PUBMED 9430630 REFERENCE 9 (bases 1 to 958) AUTHORS Zha,J., Harada,H., Yang,E., Jockel,J. and Korsmeyer,S.J. TITLE Serine phosphorylation of death agonist BAD in response to survival factor results in binding to 14-3-3 not BCL-X(L) JOURNAL Cell 87 (4), 619-628 (1996) PUBMED 8929531 REFERENCE 10 (bases 1 to 958) AUTHORS Wang,K., Yin,X.M., Chao,D.T., Milliman,C.L. and Korsmeyer,S.J. TITLE BID: a novel BH3 domain-only death agonist JOURNAL Genes Dev. 10 (22), 2859-2869 (1996) PUBMED 8918887 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC096670.1, AK290377.1 and AW629314.1. This sequence is a reference standard in the RefSeqGene project. Summary: The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]. Transcript Variant: This variant (18) lacks an alternate in-frame segment and differs in the 3' UTR and coding sequence, compared to variant 1. The resulting isoform (18) is shorter and has a distinct C-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. 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## RNAseq introns :: mixed/partial sample support ERS025081, ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-72 AC096670.1 78236-78307 c 73-385 AK290377.1 73-385 386-412 AC096670.1 75352-75378 c 413-502 AC096670.1 75082-75171 c 503-581 AC096670.1 56830-56908 c 582-614 AC096670.1 54701-54733 c 615-921 AC096670.1 52966-53272 c 922-958 AW629314.1 1-37 c FEATURES Location/Qualifiers source 1..958 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q13" gene 1..958 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /note="BCL2-like 11 (apoptosis facilitator)" /db_xref="GeneID:10018" /db_xref="HGNC:994" /db_xref="MIM:603827" exon 1..275 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /inference="alignment:Splign:1.39.8" variation 67..69 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="" /replace="gcc" /db_xref="dbSNP:5833391" variation 72 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:1439286" variation 75 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:3929143" misc_feature 121..123 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /note="upstream in-frame stop codon" variation 196 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:368164757" variation 209 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="c" /db_xref="dbSNP:116907128" exon 276..412 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /inference="alignment:Splign:1.39.8" variation 285 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:189552070" CDS 289..585 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /note="isoform 18 is encoded by transcript variant 18; bcl-2 interacting protein Bim; bcl-2 interacting mediator of cell death; bcl-2-related ovarian death agonist" /codon_start=1 /product="bcl-2-like protein 11 isoform 18" /protein_id="NP_001191042.1" /db_xref="GI:323362973" /db_xref="GeneID:10018" /db_xref="HGNC:994" /db_xref="MIM:603827" /translation="
MAKQPSDVSSECDREGRQLQPAERPPQLRPGAPTSLQTEPQDRSPAPMSCDKSTQTPSPPCQAFNHYLSAMDDSAGSSLRIALHREVQWPLKWLAKSS
" misc_feature 298..408 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /note="Bim protein N-terminus; Region: Bim_N; pfam06773" /db_xref="CDD:115431" variation 327 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:112446582" variation 342 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:140468882" variation 365 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="c" /db_xref="dbSNP:375839187" variation 382 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:200974474" variation 386 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:370683853" variation 388 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:151214891" variation 390 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:150345581" exon 413..502 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /inference="alignment:Splign:1.39.8" exon 503..581 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /inference="alignment:Splign:1.39.8" variation 510 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:148743335" variation 558 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="t" /db_xref="dbSNP:114223633" variation 567 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:200453151" variation 574 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="c" /db_xref="dbSNP:374980122" exon 582..614 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /inference="alignment:Splign:1.39.8" variation 611 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="g" /db_xref="dbSNP:73954956" exon 615..950 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /inference="alignment:Splign:1.39.8" variation 616 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:3761705" variation 658 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:371946113" variation 787 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:3761704" variation 831 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:73954958" variation 833 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:180684741" variation 920 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="g" /db_xref="dbSNP:78947792" variation 921 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="c" /replace="t" /db_xref="dbSNP:11674517" polyA_signal 932..937 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" variation 938 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" /replace="a" /replace="g" /db_xref="dbSNP:150272389" polyA_site 950 /gene="BCL2L11" /gene_synonym="BAM; BIM; BOD" ORIGIN
acttcgctccgcgcagccgcctggtctgcagtttgttggagctctgcgtccagcgccgctgccgctgccgccgccgccgccgccgccgccgccgccgccgccgccgccactaccaccacttgattcttgcagccaccctgcgaaccctgccacactgcgatcgcatcatcgcggtattcggttcgctgcgttcccgccgccaccgcctcggcgccctttcttggcccttgttcccccaaatgtctgactctgactctcggactgagaaacgcaagaaaaaaagaccaaatggcaaagcaaccttctgatgtaagttctgagtgtgaccgagaaggtagacaattgcagcctgcggagaggcctccccagctcagacctggggcccctacctccctacagacagagccacaagacaggagcccagcacccatgagttgtgacaaatcaacacaaaccccaagtcctccttgccaggccttcaaccactatctcagtgcaatggatgactccgctggatcctccctcagaattgcccttcatagggaagttcagtggccactcaagtggttagcaaaatcaagctaactgggactagaaacagctccatcacccagtaaagagaaagaaaacatggatctgcctaggaagtcacctctgcctgagtctgctacttgcaggattggagcttttgctgcagattacagctttgaagtcactttacctcaagagcagtttatattttattgtgctttaaaaaaaaaatttagtgccaggtttatggagtgaagtgctttcataaatgctgaaactacattttctgtgggtaaaaatgcagctcatcagaatttcccctttgaagaattttttatgttcacataaaattgccaagttaaaaatttgatctccctacagagtaagagctttcatttcaaataaaaccattttatagaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10018 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10018 -> Molecular function: GO:0008017 [microtubule binding] evidence: IDA GeneID:10018 -> Molecular function: GO:0008017 [microtubule binding] evidence: IEA GeneID:10018 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA GeneID:10018 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA GeneID:10018 -> Biological process: GO:0001782 [B cell homeostasis] evidence: IEA GeneID:10018 -> Biological process: GO:0001783 [B cell apoptotic process] evidence: IEA GeneID:10018 -> Biological process: GO:0001822 [kidney development] evidence: IEA GeneID:10018 -> Biological process: GO:0002262 [myeloid cell homeostasis] evidence: IEA GeneID:10018 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:10018 -> Biological process: GO:0006917 [induction of apoptosis] evidence: TAS GeneID:10018 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IDA GeneID:10018 -> Biological process: GO:0007160 [cell-matrix adhesion] evidence: IEA GeneID:10018 -> Biological process: GO:0007283 [spermatogenesis] evidence: IEA GeneID:10018 -> Biological process: GO:0007420 [brain development] evidence: IEA GeneID:10018 -> Biological process: GO:0008584 [male gonad development] evidence: IEA GeneID:10018 -> Biological process: GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] evidence: IDA GeneID:10018 -> Biological process: GO:0030879 [mammary gland development] evidence: IEA GeneID:10018 -> Biological process: GO:0032464 [positive regulation of protein homooligomerization] evidence: IDA GeneID:10018 -> Biological process: GO:0034976 [response to endoplasmic reticulum stress] evidence: IDA GeneID:10018 -> Biological process: GO:0035148 [tube formation] evidence: IEA GeneID:10018 -> Biological process: GO:0042475 [odontogenesis of dentin-containing tooth] evidence: IEA GeneID:10018 -> Biological process: GO:0043029 [T cell homeostasis] evidence: IEA GeneID:10018 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IMP GeneID:10018 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: TAS GeneID:10018 -> Biological process: GO:0043525 [positive regulation of neuron apoptotic process] evidence: IEA GeneID:10018 -> Biological process: GO:0043583 [ear development] evidence: IEA GeneID:10018 -> Biological process: GO:0045787 [positive regulation of cell cycle] evidence: IEA GeneID:10018 -> Biological process: GO:0046620 [regulation of organ growth] evidence: IEA GeneID:10018 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS GeneID:10018 -> Biological process: GO:0048066 [developmental pigmentation] evidence: IEA GeneID:10018 -> Biological process: GO:0048070 [regulation of developmental pigmentation] evidence: IEA GeneID:10018 -> Biological process: GO:0048536 [spleen development] evidence: IEA GeneID:10018 -> Biological process: GO:0048538 [thymus development] evidence: IEA GeneID:10018 -> Biological process: GO:0048563 [post-embryonic organ morphogenesis] evidence: IEA GeneID:10018 -> Biological process: GO:0060154 [cellular process regulating host cell cycle in response to virus] evidence: IEA GeneID:10018 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IGI GeneID:10018 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IMP GeneID:10018 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: TAS GeneID:10018 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:10018 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS GeneID:10018 -> Biological process: GO:2000271 [positive regulation of fibroblast apoptotic process] evidence: IDA GeneID:10018 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP GeneID:10018 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: TAS GeneID:10018 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:10018 -> Cellular component: GO:0005829 [cytosol] evidence: IDA GeneID:10018 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:10018 -> Cellular component: GO:0005874 [microtubule] evidence: IDA GeneID:10018 -> Cellular component: GO:0012505 [endomembrane system] evidence: IEA GeneID:10018 -> Cellular component: GO:0019898 [extrinsic to membrane] evidence: IEA GeneID:10018 -> Cellular component: GO:0097140 [BIM-BCL-xl complex] evidence: IDA GeneID:10018 -> Cellular component: GO:0097141 [BIM-BCL-2 complex] evidence: IDA
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