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2024-04-26 05:17:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001001786 862 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens BH3-like motif containing, cell death inducer (BLID),
mRNA.
ACCESSION NM_001001786
VERSION NM_001001786.2 GI:221316604
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 862)
AUTHORS Cavalli,L.R., Noone,A.M., Makambi,K.H., Rone,J.D., Kasid,U.N. and
Haddad,B.R.
TITLE Frequent loss of the BLID gene in early-onset breast cancer
JOURNAL Cytogenet. Genome Res. 135 (1), 19-24 (2011)
PUBMED 21846966
REMARK GeneRIF: Frequent loss of the BLID gene is observed in early-onset
breast cancer.
REFERENCE 2 (bases 1 to 862)
AUTHORS Smith,E.N., Chen,W., Kahonen,M., Kettunen,J., Lehtimaki,T.,
Peltonen,L., Raitakari,O.T., Salem,R.M., Schork,N.J., Shaw,M.,
Srinivasan,S.R., Topol,E.J., Viikari,J.S., Berenson,G.S. and
Murray,S.S.
TITLE Longitudinal genome-wide association of cardiovascular disease risk
factors in the Bogalusa heart study
JOURNAL PLoS Genet. 6 (9), E1001094 (2010)
PUBMED 20838585
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 862)
AUTHORS Tassano,E., Acquila,M., Tavella,E., Micalizzi,C., Panarello,C. and
Morerio,C.
TITLE MicroRNA-125b-1 and BLID upregulation resulting from a novel IGH
translocation in childhood B-Cell precursor acute lymphoblastic
leukemia
JOURNAL Genes Chromosomes Cancer 49 (8), 682-687 (2010)
PUBMED 20544842
REMARK GeneRIF: BLID upregulation resulting from a novel IGH translocation
is associated with childhood B-Cell precursor acute lymphoblastic
leukemia.
REFERENCE 4 (bases 1 to 862)
AUTHORS Broustas,C.G., Ross,J.S., Yang,Q., Sheehan,C.E., Riggins,R.,
Noone,A.M., Haddad,B.R., Seillier-Moiseiwitsch,F., Kallakury,B.V.,
Haffty,B.G., Clarke,R. and Kasid,U.N.
TITLE The proapoptotic molecule BLID interacts with Bcl-XL and its
downregulation in breast cancer correlates with poor disease-free
and overall survival
JOURNAL Clin. Cancer Res. 16 (11), 2939-2948 (2010)
PUBMED 20400521
REMARK GeneRIF: BLID is a new binding partner of Bcl-X(L) and a
significant prognostic factor in breast cancer
REFERENCE 5 (bases 1 to 862)
AUTHORS Zhao,F., Bai,J., Chen,W., Xue,A., Li,C., Yan,Z., Chen,H., Lu,F.,
Hu,Y., Qu,J., Zeng,C. and Zhou,X.
TITLE Evaluation of BLID and LOC399959 as candidate genes for high myopia
in the Chinese Han population
JOURNAL Mol. Vis. 16, 1920-1927 (2010)
PUBMED 21031016
REMARK GeneRIF: Tag single nucleotide polymorphisms near the BLID and
LOC399959 genes are not susceptibility loci for high myopia in the
Chinese Han population.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 862)
AUTHORS Nakanishi,H., Yamada,R., Gotoh,N., Hayashi,H., Yamashiro,K.,
Shimada,N., Ohno-Matsui,K., Mochizuki,M., Saito,M., Iida,T.,
Matsuo,K., Tajima,K., Yoshimura,N. and Matsuda,F.
TITLE A genome-wide association analysis identified a novel susceptible
locus for pathological myopia at 11q24.1
JOURNAL PLoS Genet. 5 (9), E1000660 (2009)
PUBMED 19779542
REMARK GeneRIF: Observational study and genome-wide association study of
gene-disease association. (HuGE Navigator)
REFERENCE 7 (bases 1 to 862)
AUTHORS Cavalli,L.R., Santos,S.C., Broustas,C.G., Rone,J.D., Kasid,U.N. and
Haddad,B.R.
TITLE Assignment of the BLID gene to 11q24.1 by fluorescence in situ
hybridization
JOURNAL Cancer Genet. Cytogenet. 186 (2), 120-121 (2008)
PUBMED 18940476
REMARK GeneRIF: BLID gene is assigned to 11p24.1.
REFERENCE 8 (bases 1 to 862)
AUTHORS Broustas,C.G., Gokhale,P.C., Rahman,A., Dritschilo,A., Ahmad,I. and
Kasid,U.
TITLE BRCC2, a novel BH3-like domain-containing protein, induces
apoptosis in a caspase-dependent manner
JOURNAL J. Biol. Chem. 279 (25), 26780-26788 (2004)
PUBMED 15069058
REMARK GeneRIF: BRCC2 is a novel BH3-like domain-containing protein which
induces apoptosis in a caspase-dependent manner
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF303179.1 and BC130363.1.
On Jan 24, 2009 this sequence version replaced gi:49169819.
Summary: This gene encodes a BH3-like motif containing protein
involved in cell death. The encoded protein may induce apoptosis in
a caspase-dependent manner. The protein is localized in both the
cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011].
##Evidence-Data-START##
Transcript is intronless :: AF303179.1 [ECO:0000345]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: PMID: 15069058
##RefSeq-Attributes-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-326 AF303179.1 1-326
327-327 BC130363.1 205-205
328-862 AF303179.1 328-862
FEATURES Location/Qualifiers
source 1..862
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q24.1"
gene 1..862
/gene="BLID"
/gene_synonym="BRCC2"
/note="BH3-like motif containing, cell death inducer"
/db_xref="GeneID:414899"
/db_xref="HGNC:33495"
/db_xref="MIM:608853"
exon 1..862
/gene="BLID"
/gene_synonym="BRCC2"
/inference="alignment:Splign:1.39.8"
variation complement(47)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:369824683"
variation complement(68)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:186202766"
variation complement(91)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:7116477"
variation complement(248)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376983964"
misc_feature 282..284
/gene="BLID"
/gene_synonym="BRCC2"
/note="upstream in-frame stop codon"
CDS 294..620
/gene="BLID"
/gene_synonym="BRCC2"
/note="breast cancer cell 2; breast cancer cell protein 2"
/codon_start=1
/product="BH3-like motif-containing cell death inducer"
/protein_id="NP_001001786.2"
/db_xref="GI:221316605"
/db_xref="CCDS:CCDS31693.1"
/db_xref="GeneID:414899"
/db_xref="HGNC:33495"
/db_xref="MIM:608853"
/translation="
MVTLLPIEGQEIHFFEILESECVLYTGWIERASGSSIYPEAKARLPLEALLGSNKEPMLPKETVLSLKRYNLGSSAMKRNVPGHVLQRPSYLTRIQVTLLCNSSAEAL
"
misc_feature 306..329
/gene="BLID"
/gene_synonym="BRCC2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IZY5.2);
Region: BH3-like"
variation complement(313)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200941988"
variation complement(329)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150871857"
variation complement(330)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200903371"
variation complement(378)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:141601060"
variation complement(423)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375021415"
variation complement(425)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139339181"
variation complement(439)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371252798"
variation complement(443)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:367833500"
variation complement(465)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146932754"
variation complement(486)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141072017"
variation complement(503)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:374547951"
variation complement(519)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372814184"
variation complement(520)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:7116084"
variation complement(521)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375384155"
variation complement(523)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:368217508"
variation complement(549)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375718764"
variation complement(562)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:199726224"
variation complement(567)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="t"
/db_xref="dbSNP:371077829"
variation complement(580)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:143060483"
variation complement(583)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:377525023"
variation complement(592)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:182338568"
variation complement(594)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201108029"
variation complement(598)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375451446"
variation complement(612)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:202048578"
variation complement(632)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="t"
/db_xref="dbSNP:377007279"
variation complement(652)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373299233"
variation complement(661)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370150091"
variation complement(667)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376140134"
variation complement(744)
/gene="BLID"
/gene_synonym="BRCC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148682233"
ORIGIN
atgatgttgtgtttggagaaaagagagaagagaattgaataagtacatgaccccttggaagctgttttcagttgaggattttggtgagtagccacttgaaatcaagggaaattccatgaatagcaggagctgggaagaaaggaagaggaggaaggatcccaccacttttttcttcccatctaacaccgtgcttatgcaaagcatagtccatatgagatctgccttataaaaacttgctgaataaagcgaatggaagttaaattttggactttcttccataatagcttcaaattatggtgactttgttgcctatagagggccaggaaatacatttctttgagatcctagaatctgagtgtgtgctctacacaggatggatagagcgagcctctggcagttccatttatccagaggcaaaagcacgcctgccactggaggcgctcttgggttccaacaaagaacctatgttgcctaaggaaacagtgctttctcttaaaaggtacaatcttggctcctctgccatgaagcggaatgttcctggacatgtgcttcagagaccttcctatttaaccaggatacaagttacattgttatgcaattcctctgctgaggccctgtaaaaggagtgagttaggacagatgcagcaagatattaggacagatttcgcccattattcaggctgcacaacacagaaggaaacttgatttcaataagacccaattcttaacagtcttttctacccacttttacccataacttttccaaatttggttcaaattgtgcagagaaacaataaaatttttaaaaaggataaactggctagttaaaagtaaatggcatttaattaaaacaaatcttgca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:414899 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:414899 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
by
@meso_cacase at
DBCLS
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