BLID_HUMAN
ID BLID_HUMAN Reviewed; 108 AA.
AC Q8IZY5; A1L416;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-SEP-2007, sequence version 2.
DT 03-AUG-2022, entry version 102.
DE RecName: Full=BH3-like motif-containing cell death inducer;
DE AltName: Full=Breast cancer cell protein 2;
GN Name=BLID; Synonyms=BRCC2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND MUTAGENESIS OF LEU-5.
RC TISSUE=Mammary cancer;
RX PubMed=15069058; DOI=10.1074/jbc.m400159200;
RA Broustas C.G., Gokhale P.C., Rahman A., Dritschilo A., Ahmad I., Kasid U.;
RT "BRCC2, a novel BH3-like domain-containing protein, induces apoptosis in a
RT caspase-dependent manner.";
RL J. Biol. Chem. 279:26780-26788(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Functions as a proapoptotic molecule through the caspase-
CC dependent mitochondrial pathway of cell death.
CC {ECO:0000269|PubMed:15069058}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15069058}.
CC Mitochondrion {ECO:0000269|PubMed:15069058}. Note=Lower abundance in
CC mitochondrion than in cytoplasm.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:15069058}.
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DR EMBL; AF303179; AAN31127.1; -; mRNA.
DR EMBL; BC130361; AAI30362.1; -; mRNA.
DR EMBL; BC130363; AAI30364.1; -; mRNA.
DR CCDS; CCDS31693.1; -.
DR RefSeq; NP_001001786.2; NM_001001786.2.
DR AlphaFoldDB; Q8IZY5; -.
DR BioGRID; 136097; 12.
DR IntAct; Q8IZY5; 9.
DR MINT; Q8IZY5; -.
DR STRING; 9606.ENSP00000453153; -.
DR iPTMnet; Q8IZY5; -.
DR PhosphoSitePlus; Q8IZY5; -.
DR BioMuta; BLID; -.
DR PaxDb; Q8IZY5; -.
DR PeptideAtlas; Q8IZY5; -.
DR PRIDE; Q8IZY5; -.
DR ProteomicsDB; 71443; -.
DR Antibodypedia; 55634; 64 antibodies from 16 providers.
DR DNASU; 414899; -.
DR Ensembl; ENST00000560104.2; ENSP00000453153.1; ENSG00000259571.2.
DR GeneID; 414899; -.
DR KEGG; hsa:414899; -.
DR MANE-Select; ENST00000560104.2; ENSP00000453153.1; NM_001001786.3; NP_001001786.2.
DR UCSC; uc001pyf.3; human.
DR CTD; 414899; -.
DR DisGeNET; 414899; -.
DR GeneCards; BLID; -.
DR HGNC; HGNC:33495; BLID.
DR HPA; ENSG00000259571; Tissue enriched (brain).
DR MIM; 608853; gene.
DR neXtProt; NX_Q8IZY5; -.
DR OpenTargets; ENSG00000259571; -.
DR PharmGKB; PA162377555; -.
DR VEuPathDB; HostDB:ENSG00000259571; -.
DR eggNOG; ENOG502TGWD; Eukaryota.
DR GeneTree; ENSGT00520000061087; -.
DR HOGENOM; CLU_2202905_0_0_1; -.
DR InParanoid; Q8IZY5; -.
DR OMA; KEPMLPK; -.
DR OrthoDB; 1579454at2759; -.
DR PathwayCommons; Q8IZY5; -.
DR SignaLink; Q8IZY5; -.
DR BioGRID-ORCS; 414899; 7 hits in 1063 CRISPR screens.
DR GenomeRNAi; 414899; -.
DR Pharos; Q8IZY5; Tbio.
DR PRO; PR:Q8IZY5; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8IZY5; protein.
DR Bgee; ENSG00000259571; Expressed in cartilage tissue and 26 other tissues.
DR Genevisible; Q8IZY5; HS.
DR GO; GO:0005829; C:cytosol; IMP:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IMP:UniProtKB.
DR GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR GO; GO:0043280; P:positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; IMP:UniProtKB.
PE 1: Evidence at protein level;
KW Apoptosis; Cytoplasm; Mitochondrion; Reference proteome.
FT CHAIN 1..108
FT /note="BH3-like motif-containing cell death inducer"
FT /id="PRO_0000301669"
FT MOTIF 5..12
FT /note="BH3-like"
FT VARIANT 76
FT /note="A -> D (in dbSNP:rs7116084)"
FT /id="VAR_056750"
FT MUTAGEN 5
FT /note="L->E: Fails to induce apoptosis."
FT /evidence="ECO:0000269|PubMed:15069058"
FT CONFLICT 12
FT /note="I -> V (in Ref. 1; AAN31127)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 108 AA; 12045 MW; A08A98D31676DF8D CRC64;
MVTLLPIEGQ EIHFFEILES ECVLYTGWIE RASGSSIYPE AKARLPLEAL LGSNKEPMLP
KETVLSLKRY NLGSSAMKRN VPGHVLQRPS YLTRIQVTLL CNSSAEAL
