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2024-04-26 12:18:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001244572 2254 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens BH3 interacting domain death agonist (BID), transcript
variant 7, mRNA.
ACCESSION NM_001244572
VERSION NM_001244572.1 GI:347300422
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 2254)
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 2254)
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 2254)
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 2254)
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 2254)
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 2254)
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 2254)
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 2254)
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 2254)
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 2254)
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 DA274603.1, DB167767.1,
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 (7) lacks two alternate coding
exons compared to variant 1, that causes a frameshift. This variant
uses a downstream in-frame start-codon, so the encoded isoform 3
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 :: DB167767.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-339 DA274603.1 1-339
340-572 DB167767.1 2-234
573-858 AK094795.1 795-1080
859-859 AC006285.13 123432-123432 c
860-2214 AK094795.1 1082-2436
2215-2215 AC006285.13 122076-122076 c
2216-2236 AK094795.1 2438-2458
2237-2254 BC036364.1 2495-2512
FEATURES Location/Qualifiers
source 1..2254
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.1"
gene 1..2254
/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..433
/gene="BID"
/gene_synonym="FP497"
/inference="alignment:Splign:1.39.8"
variation 64
/gene="BID"
/gene_synonym="FP497"
/replace="c"
/replace="t"
/db_xref="dbSNP:8190271"
variation 267
/gene="BID"
/gene_synonym="FP497"
/replace="c"
/replace="t"
/db_xref="dbSNP:8190272"
variation 322
/gene="BID"
/gene_synonym="FP497"
/replace="c"
/replace="t"
/db_xref="dbSNP:8190273"
misc_feature 376..378
/gene="BID"
/gene_synonym="FP497"
/note="upstream in-frame stop codon"
exon 434..573
/gene="BID"
/gene_synonym="FP497"
/inference="alignment:Splign:1.39.8"
CDS 499..798
/gene="BID"
/gene_synonym="FP497"
/note="isoform 3 is encoded by transcript variant 7;
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 3"
/protein_id="NP_001231501.1"
/db_xref="GI:347300423"
/db_xref="CCDS:CCDS13749.1"
/db_xref="GeneID:637"
/db_xref="HGNC:1050"
/db_xref="MIM:601997"
/translation="
MDRSIPPGLVNGLALQLRNTSRSEEDRNRDLATALEQLLQAYPRDMEKEKTMLVLALLLAKKVASHTPSLLRDVFHTTVNFINQNLRTYVRSLARNGMD
"
misc_feature <499..786
/gene="BID"
/gene_synonym="FP497"
/note="BH3 interacting domain (BID); Region: BID;
pfam06393"
/db_xref="CDD:203434"
exon 574..786
/gene="BID"
/gene_synonym="FP497"
/inference="alignment:Splign:1.39.8"
variation 738
/gene="BID"
/gene_synonym="FP497"
/replace="c"
/replace="t"
/db_xref="dbSNP:11538"
exon 787..2238
/gene="BID"
/gene_synonym="FP497"
/inference="alignment:Splign:1.39.8"
variation 833
/gene="BID"
/gene_synonym="FP497"
/replace="c"
/replace="t"
/db_xref="dbSNP:8190354"
STS 857..931
/gene="BID"
/gene_synonym="FP497"
/standard_name="SHGC-36512"
/db_xref="UniSTS:4995"
variation 949
/gene="BID"
/gene_synonym="FP497"
/replace="a"
/replace="t"
/db_xref="dbSNP:1802194"
variation 964
/gene="BID"
/gene_synonym="FP497"
/replace="a"
/replace="c"
/db_xref="dbSNP:1061200"
polyA_site 1016
/gene="BID"
/gene_synonym="FP497"
STS 1208..1369
/gene="BID"
/gene_synonym="FP497"
/standard_name="RH92974"
/db_xref="UniSTS:89764"
variation 1260
/gene="BID"
/gene_synonym="FP497"
/replace="a"
/replace="g"
/db_xref="dbSNP:8190355"
variation 1347..1348
/gene="BID"
/gene_synonym="FP497"
/replace=""
/replace="a"
/db_xref="dbSNP:201806962"
variation 1347
/gene="BID"
/gene_synonym="FP497"
/replace=""
/replace="a"
/db_xref="dbSNP:8190357"
variation 1756
/gene="BID"
/gene_synonym="FP497"
/replace="a"
/replace="t"
/db_xref="dbSNP:8190358"
variation 2062..2065
/gene="BID"
/gene_synonym="FP497"
/replace=""
/replace="cttt"
/db_xref="dbSNP:78336589"
variation 2064..2065
/gene="BID"
/gene_synonym="FP497"
/replace=""
/replace="cttt"
/db_xref="dbSNP:201965650"
variation 2065
/gene="BID"
/gene_synonym="FP497"
/replace=""
/replace="cttt"
/db_xref="dbSNP:8190359"
variation 2068
/gene="BID"
/gene_synonym="FP497"
/replace=""
/replace="aa"
/db_xref="dbSNP:25591"
variation 2192
/gene="BID"
/gene_synonym="FP497"
/replace="a"
/replace="g"
/db_xref="dbSNP:8190360"
variation 2193
/gene="BID"
/gene_synonym="FP497"
/replace="c"
/replace="t"
/db_xref="dbSNP:8190361"
variation 2199
/gene="BID"
/gene_synonym="FP497"
/replace="a"
/replace="g"
/db_xref="dbSNP:8190362"
polyA_signal 2218..2223
/gene="BID"
/gene_synonym="FP497"
polyA_site 2238
/gene="BID"
/gene_synonym="FP497"
ORIGIN
gaggggccgaggccagccccggagaggagaaaacccgcgggcctggccgggtgcaggccacccttgccggcggatcggaatccccgcccacaccgtggtctttccagcaccgcagacacctgccggctcctcccgagcggagctcagggctgacaaagcgcggtcagagcggccgcttactggggctcgcccgctccttagagcactggcaatgatgtgcggatcctcgctgctgctgctgggaaactgttgagtggctgaatgaccccaggggaccctgggagagctctgaagccctcagccaccaagtggctgggctggcaagggttcattcattcattcaacaaatacgaatgtgcagcggtgctggggtcatgatggctcggtgggcagcgaggggccgggccggctggaggagcacagtgcggattctattctgaaagtcaagaagacatcatccggaatattgccaggcacctcgcccaggtcggggacagcatggaccgtagcatccctccgggcctggtgaacggcctggccctgcagctcaggaacaccagccggtcggaggaggaccggaacagggacctggccactgccctggagcagctgctgcaggcctaccctagagacatggagaaggagaagaccatgctggtgctggccctgctgctggccaagaaggtggccagtcacacgccgtccttgctccgtgatgtctttcacacaacagtgaattttattaaccagaacctacgcacctacgtgaggagcttagccagaaatgggatggactgaacggacagttccagaagtgtgactggctaaagctcgatgtggtcacagctgtatagctgcttccagtgtagacggagccctggcatgtcaacagcgttcctagagaagacaggctggaagatagctgtgacttctattttaaagacaatgttaaacttataacccactttaaaatatctacattaatatacttgaatgaaaatgtccatttacacgtatttgaatggccttcatatcatccacacatgaatctgcacatctgtaaatctacacacggtgcctttatttccactgtgcaggttcccacttaaaaattaaattggaaagcaggtttcaaggaagtagaaacaaaatacaatttttttggtaaaaaaaaattactgtttattaaagtacaaccatagaggatggtcttacagcaggcagtatcctgtttgaggaaagcaagaatcagagaaggaacataccccttacaaatgaaaaattccactcaaaatagggactatctatcttaatactaaggaaccaacaatcttcctgtttaaaaaaccacatggcacagagattctgaactaaagtgctgcactcaaatgatgggaagtccggccccagtacacaggggcttgactttttcaacttcgtttcctttgttggagtcaaaaagaaccacttgtggttctaaaaggtgtgaaggtgatttaagggcccaggtcagccactgtttgtttacaaaatcaggtaactaactgcatacactttttctctttccatgacatcaagactttgctaaagacatgaagccacgggtgccagaagctactgcgatgccccgggagttagccccctggtaatagctgtaaacttccaatttctagccatacgctcagctcatccatgcctcagaagtgcatctggagagaacaggtttctaagcataaaagatgaaagagcagttggactttttaaaaattcagcaaagtggttccctctcttagggacagtcaaaaccaagtcacttaggtagtaccaaaataaataaggaaaagcttagctttagaaacagtgcaacactggtctgctgttccagtggtaagctatgtcccaggaatcagtttaaaagcacgacagtggatgctgggtccatatcacacacattgctgtgaacaggaaactcctgtgaccacaacatgaggccactggagacgcatatgagtaagggcactgacggactcatgatttcttcttaccagatgctttcctgttctttaagagtttaaaatcatcagaaaggaaaaacaaactctatattgttcagcatgcaatacataccacgctagggctggctcaattgaaagtgggcaaaagcttacaaatactaaaaagaagtgctgccgcgcagtgtggaggccactgtttggaaataaatcttcctaacactacaaaaaaaaaaaaaaaa
//
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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