2024-04-26 09:20:16, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001244567 2128 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens BH3 interacting domain death agonist (BID), transcript variant 4, mRNA. ACCESSION NM_001244567 VERSION NM_001244567.1 GI:347300409 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 2128) AUTHORS Moldoveanu,T., Grace,C.R., Llambi,F., Nourse,A., Fitzgerald,P., Gehring,K., Kriwacki,R.W. and Green,D.R. TITLE BID-induced structural changes in BAK promote apoptosis JOURNAL Nat. Struct. Mol. Biol. 20 (5), 589-597 (2013) PUBMED 23604079 REMARK GeneRIF: BAK activation follows a 'hit-and-run' mechanism whereby BID dissociates from the trigger site, which allows BAK oligomerization at an overlapping interface. REFERENCE 2 (bases 1 to 2128) AUTHORS Santiveri,C.M., Sborgi,L. and de Alba,E. TITLE Nuclear magnetic resonance study of protein-protein interactions involving apoptosis regulator Diva (Boo) and the BH3 domain of proapoptotic Bcl-2 members JOURNAL J. Mol. Recognit. 25 (12), 665-673 (2012) PUBMED 23192964 REMARK GeneRIF: Diva binds peptides derived from the BH3 domain of several other proapoptotic Bcl-2 proteins, including mouse Harakiri, Bid, Bak and Bmf. REFERENCE 3 (bases 1 to 2128) AUTHORS Jiang,H., He,P., Adler,C.H., Shill,H., Beach,T.G., Li,R. and Shen,Y. TITLE Bid signal pathway components are identified in the temporal cortex with Parkinson disease JOURNAL Neurology 79 (17), 1767-1773 (2012) PUBMED 23019260 REMARK GeneRIF: Patients with Parkinson disease have an activated Bid-mediated destructive signal pathway via tumor necrosis factor death receptor I (TNFRI) in the temporal cortex. REFERENCE 4 (bases 1 to 2128) AUTHORS Aranovich,A., Liu,Q., Collins,T., Geng,F., Dixit,S., Leber,B. and Andrews,D.W. TITLE Differences in the mechanisms of proapoptotic BH3 proteins binding to Bcl-XL and Bcl-2 quantified in live MCF-7 cells JOURNAL Mol. Cell 45 (6), 754-763 (2012) PUBMED 22464442 REMARK GeneRIF: mechanism of proapoptotic BH3 proteins Bad and Bid binding to Bcl-XL and Bcl-2 in breast cancer cells REFERENCE 5 (bases 1 to 2128) AUTHORS Appelqvist,H., Johansson,A.C., Linderoth,E., Johansson,U., Antonsson,B., Steinfeld,R., Kagedal,K. and Ollinger,K. TITLE Lysosome-mediated apoptosis is associated with cathepsin D-specific processing of bid at Phe24, Trp48, and Phe183 JOURNAL Ann. Clin. Lab. Sci. 42 (3), 231-242 (2012) PUBMED 22964611 REMARK GeneRIF: Three cathepsin D-specific cleavage sites in Bid, Phe24, Trp48, and Phe183, were identified. REFERENCE 6 (bases 1 to 2128) AUTHORS Footz,T.K., Birren,B., Minoshima,S., Asakawa,S., Shimizu,N., Riazi,M.A. and McDermid,H.E. TITLE The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6 JOURNAL Genomics 51 (3), 472-475 (1998) PUBMED 9721221 REFERENCE 7 (bases 1 to 2128) 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 2128) 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 REFERENCE 9 (bases 1 to 2128) AUTHORS Amagai,M., Wang,Y., Minoshima,S., Kawamura,K., Green,K.J., Nishikawa,T. and Shimizu,N. TITLE Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12 JOURNAL Genomics 25 (1), 330-332 (1995) PUBMED 7774948 REFERENCE 10 (bases 1 to 2128) AUTHORS Kawamura,K., Watanabe,K., Suzuki,T., Yamakawa,T., Kamiyama,T., Nakagawa,H. and Tsurufuji,S. TITLE cDNA cloning and expression of a novel human desmocollin JOURNAL J. Biol. Chem. 269 (42), 26295-26302 (1994) PUBMED 7929347 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from EU678294.1, AK094795.1, AC006285.13 and BC036364.1. Summary: This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (4) has an alternate 5' exon and uses a downstream in-frame start codon, as compared to variant 1. The encoded isoform 2 thus has a shorter N-terminus, as compared to 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 :: BX375832.2, EU678294.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025098 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-700 EU678294.1 1-700 701-732 AK094795.1 1049-1080 733-733 AC006285.13 123432-123432 c 734-2088 AK094795.1 1082-2436 2089-2089 AC006285.13 122076-122076 c 2090-2110 AK094795.1 2438-2458 2111-2128 BC036364.1 2495-2512 FEATURES Location/Qualifiers source 1..2128 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="22" /map="22q11.1" gene 1..2128 /gene="BID" /gene_synonym="FP497" /note="BH3 interacting domain death agonist" /db_xref="GeneID:637" /db_xref="HGNC:1050" /db_xref="MIM:601997" exon 1..26 /gene="BID" /gene_synonym="FP497" /inference="alignment:Splign:1.39.8" exon 27..96 /gene="BID" /gene_synonym="FP497" /inference="alignment:Splign:1.39.8" CDS 85..672 /gene="BID" /gene_synonym="FP497" /note="isoform 2 is encoded by transcript variant 4; BH3-interacting domain death agonist; apoptic death agonist; Human BID coding sequence; desmocollin type 4; BID isoform ES(1b); BID isoform L(2); BID isoform Si6; p22 BID" /codon_start=1 /product="BH3-interacting domain death agonist isoform 2" /protein_id="NP_001231496.1" /db_xref="GI:347300410" /db_xref="CCDS:CCDS13748.1" /db_xref="GeneID:637" /db_xref="HGNC:1050" /db_xref="MIM:601997" /translation="
MDCEVNNGSSLRDECITNLLVFGFLQSCSDNSFRRELDALGHELPVLAPQWEGYDELQTDGNRSSHSRLGRIEADSESQEDIIRNIARHLAQVGDSMDRSIPPGLVNGLALQLRNTSRSEEDRNRDLATALEQLLQAYPRDMEKEKTMLVLALLLAKKVASHTPSLLRDVFHTTVNFINQNLRTYVRSLARNGMD
" misc_feature 85..660 /gene="BID" /gene_synonym="FP497" /note="BH3 interacting domain (BID); Region: BID; pfam06393" /db_xref="CDD:203434" exon 97..307 /gene="BID" /gene_synonym="FP497" /inference="alignment:Splign:1.39.8" variation 105 /gene="BID" /gene_synonym="FP497" /replace="c" /replace="t" /db_xref="dbSNP:8190314" variation 112 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="g" /db_xref="dbSNP:8190315" variation 232 /gene="BID" /gene_synonym="FP497" /replace="c" /replace="t" /db_xref="dbSNP:11542850" variation 264 /gene="BID" /gene_synonym="FP497" /replace="c" /replace="t" /db_xref="dbSNP:2072392" exon 308..447 /gene="BID" /gene_synonym="FP497" /inference="alignment:Splign:1.39.8" exon 448..660 /gene="BID" /gene_synonym="FP497" /inference="alignment:Splign:1.39.8" variation 612 /gene="BID" /gene_synonym="FP497" /replace="c" /replace="t" /db_xref="dbSNP:11538" exon 661..2112 /gene="BID" /gene_synonym="FP497" /inference="alignment:Splign:1.39.8" variation 707 /gene="BID" /gene_synonym="FP497" /replace="c" /replace="t" /db_xref="dbSNP:8190354" STS 731..805 /gene="BID" /gene_synonym="FP497" /standard_name="SHGC-36512" /db_xref="UniSTS:4995" variation 823 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="t" /db_xref="dbSNP:1802194" variation 838 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="c" /db_xref="dbSNP:1061200" polyA_site 890 /gene="BID" /gene_synonym="FP497" STS 1082..1243 /gene="BID" /gene_synonym="FP497" /standard_name="RH92974" /db_xref="UniSTS:89764" variation 1134 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="g" /db_xref="dbSNP:8190355" variation 1221..1222 /gene="BID" /gene_synonym="FP497" /replace="" /replace="a" /db_xref="dbSNP:201806962" variation 1221 /gene="BID" /gene_synonym="FP497" /replace="" /replace="a" /db_xref="dbSNP:8190357" variation 1630 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="t" /db_xref="dbSNP:8190358" variation 1936..1939 /gene="BID" /gene_synonym="FP497" /replace="" /replace="cttt" /db_xref="dbSNP:78336589" variation 1938..1939 /gene="BID" /gene_synonym="FP497" /replace="" /replace="cttt" /db_xref="dbSNP:201965650" variation 1939 /gene="BID" /gene_synonym="FP497" /replace="" /replace="cttt" /db_xref="dbSNP:8190359" variation 1942 /gene="BID" /gene_synonym="FP497" /replace="" /replace="aa" /db_xref="dbSNP:25591" variation 2066 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="g" /db_xref="dbSNP:8190360" variation 2067 /gene="BID" /gene_synonym="FP497" /replace="c" /replace="t" /db_xref="dbSNP:8190361" variation 2073 /gene="BID" /gene_synonym="FP497" /replace="a" /replace="g" /db_xref="dbSNP:8190362" polyA_signal 2092..2097 /gene="BID" /gene_synonym="FP497" polyA_site 2112 /gene="BID" /gene_synonym="FP497" ORIGIN
cactgtctgaaacagtcgcgtaaggggtcgccactgggacactgtgaaccaggagtgagtcggagctgccgcgctgcccaggccatggactgtgaggtcaacaacggttccagcctcagggatgagtgcatcacaaacctactggtgtttggcttcctccaaagctgttctgacaacagcttccgcagagagctggacgcactgggccacgagctgccagtgctggctccccagtgggagggctacgatgagctgcagactgatggcaaccgcagcagccactcccgcttgggaagaatagaggcagattctgaaagtcaagaagacatcatccggaatattgccaggcacctcgcccaggtcggggacagcatggaccgtagcatccctccgggcctggtgaacggcctggccctgcagctcaggaacaccagccggtcggaggaggaccggaacagggacctggccactgccctggagcagctgctgcaggcctaccctagagacatggagaaggagaagaccatgctggtgctggccctgctgctggccaagaaggtggccagtcacacgccgtccttgctccgtgatgtctttcacacaacagtgaattttattaaccagaacctacgcacctacgtgaggagcttagccagaaatgggatggactgaacggacagttccagaagtgtgactggctaaagctcgatgtggtcacagctgtatagctgcttccagtgtagacggagccctggcatgtcaacagcgttcctagagaagacaggctggaagatagctgtgacttctattttaaagacaatgttaaacttataacccactttaaaatatctacattaatatacttgaatgaaaatgtccatttacacgtatttgaatggccttcatatcatccacacatgaatctgcacatctgtaaatctacacacggtgcctttatttccactgtgcaggttcccacttaaaaattaaattggaaagcaggtttcaaggaagtagaaacaaaatacaatttttttggtaaaaaaaaattactgtttattaaagtacaaccatagaggatggtcttacagcaggcagtatcctgtttgaggaaagcaagaatcagagaaggaacataccccttacaaatgaaaaattccactcaaaatagggactatctatcttaatactaaggaaccaacaatcttcctgtttaaaaaaccacatggcacagagattctgaactaaagtgctgcactcaaatgatgggaagtccggccccagtacacaggggcttgactttttcaacttcgtttcctttgttggagtcaaaaagaaccacttgtggttctaaaaggtgtgaaggtgatttaagggcccaggtcagccactgtttgtttacaaaatcaggtaactaactgcatacactttttctctttccatgacatcaagactttgctaaagacatgaagccacgggtgccagaagctactgcgatgccccgggagttagccccctggtaatagctgtaaacttccaatttctagccatacgctcagctcatccatgcctcagaagtgcatctggagagaacaggtttctaagcataaaagatgaaagagcagttggactttttaaaaattcagcaaagtggttccctctcttagggacagtcaaaaccaagtcacttaggtagtaccaaaataaataaggaaaagcttagctttagaaacagtgcaacactggtctgctgttccagtggtaagctatgtcccaggaatcagtttaaaagcacgacagtggatgctgggtccatatcacacacattgctgtgaacaggaaactcctgtgaccacaacatgaggccactggagacgcatatgagtaagggcactgacggactcatgatttcttcttaccagatgctttcctgttctttaagagtttaaaatcatcagaaaggaaaaacaaactctatattgttcagcatgcaatacataccacgctagggctggctcaattgaaagtgggcaaaagcttacaaatactaaaaagaagtgctgccgcgcagtgtggaggccactgtttggaaataaatcttcctaacactacaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:637 -> Molecular function: GO:0005123 [death receptor binding] evidence: TAS GeneID:637 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:637 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IEA GeneID:637 -> Biological process: GO:0001836 [release of cytochrome c from mitochondria] evidence: IDA GeneID:637 -> Biological process: GO:0006626 [protein targeting to mitochondrion] evidence: IEA GeneID:637 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:637 -> Biological process: GO:0007420 [brain development] evidence: IEA GeneID:637 -> Biological process: GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] evidence: TAS GeneID:637 -> Biological process: GO:0008637 [apoptotic mitochondrial changes] evidence: TAS GeneID:637 -> Biological process: GO:0032355 [response to estradiol stimulus] evidence: IEA GeneID:637 -> Biological process: GO:0032461 [positive regulation of protein oligomerization] evidence: IDA GeneID:637 -> Biological process: GO:0032464 [positive regulation of protein homooligomerization] evidence: IDA GeneID:637 -> Biological process: GO:0034349 [glial cell apoptotic process] evidence: IEA GeneID:637 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: IEA GeneID:637 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IMP GeneID:637 -> Biological process: GO:0046902 [regulation of mitochondrial membrane permeability] evidence: IEA GeneID:637 -> Biological process: GO:0051260 [protein homooligomerization] evidence: IEA GeneID:637 -> Biological process: GO:0051402 [neuron apoptotic process] evidence: TAS GeneID:637 -> Biological process: GO:0090150 [establishment of protein localization to membrane] evidence: IDA GeneID:637 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IGI GeneID:637 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IMP GeneID:637 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:637 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS GeneID:637 -> Biological process: GO:1901030 [positive regulation of mitochondrial outer membrane permeabilization] evidence: TAS GeneID:637 -> Biological process: GO:2000045 [regulation of G1/S transition of mitotic cell cycle] evidence: IEA GeneID:637 -> Biological process: GO:2001238 [positive regulation of extrinsic apoptotic signaling pathway] evidence: IMP GeneID:637 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: TAS GeneID:637 -> Cellular component: GO:0005739 [mitochondrion] evidence: TAS GeneID:637 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:637 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:637 -> Cellular component: GO:0016020 [membrane] evidence: TAS GeneID:637 -> Cellular component: GO:0032592 [integral to mitochondrial membrane] evidence: IEA
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