Human Gene BAD (ENST00000394532.7) Description and Page Index
  Description: Homo sapiens BCL2 associated agonist of cell death (BAD), transcript variant 1, mRNA. (from RefSeq NM_004322)
RefSeq Summary (NM_004322): The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000394532.7
Gencode Gene: ENSG00000002330.13
Transcript (Including UTRs)
   Position: hg38 chr11:64,269,830-64,284,639 Size: 14,810 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr11:64,270,209-64,284,368 Size: 14,160 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:64,269,830-64,284,639)mRNA (may differ from genome)Protein (168 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BAD_HUMAN
DESCRIPTION: RecName: Full=Bcl2 antagonist of cell death; Short=BAD; AltName: Full=Bcl-2-binding component 6; AltName: Full=Bcl-2-like protein 8; Short=Bcl2-L-8; AltName: Full=Bcl-XL/Bcl-2-associated death promoter;
FUNCTION: Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways.
SUBUNIT: Forms heterodimers with the anti-apoptotic proteins, Bcl- X(L), Bcl-2 and Bcl-W. Also binds protein S100A10 (By similarity). The Ser-75/Ser-99 phosphorylated form binds 14-3-3 proteins (By similarity). Interacts with AKT1 and PIM3.
INTERACTION: P10415:BCL2; NbExp=5; IntAct=EBI-700771, EBI-77694; Q07817-1:BCL2L1; NbExp=6; IntAct=EBI-700771, EBI-287195; O60238:BNIP3L; NbExp=2; IntAct=EBI-700771, EBI-849893;
SUBCELLULAR LOCATION: Mitochondrion outer membrane. Cytoplasm. Note=Upon phosphorylation, locates to the cytoplasm.
TISSUE SPECIFICITY: Expressed in a wide variety of tissues.
DOMAIN: Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family.
PTM: Phosphorylated on one or more of Ser-75, Ser-99, Ser-118 and Ser-134 in response to survival stimuli, which blocks its pro- apoptotic activity. Phosphorylation on Ser-99 or Ser-75 promotes heterodimerization with 14-3-3 proteins. This interaction then facilitates the phosphorylation at Ser-118, a site within the BH3 motif, leading to the release of Bcl-X(L) and the promotion of cell survival. Ser-99 is the major site of AKT/PKB phosphorylation, Ser-118 the major site of protein kinase A (CAPK) phosphorylation. Phosphorylation at Ser-99 by PKB/AKT1 is almost completely blocked by the apoptotic C-terminus cleavage product of PKN2 generated by caspases-3 activity during apoptosis.
PTM: Methylation at Arg-94 and Arg-96 by PRMT1 inhibits Akt- mediated phosphorylation at Ser-99.
SIMILARITY: Belongs to the Bcl-2 family.
SEQUENCE CAUTION: Sequence=AAB36516.1; Type=Frameshift; Positions=64, 91;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BADID130ch11q13.html";
WEB RESOURCE: Name=Wikipedia; Note=Bcl 2-associated death promoter entry; URL="http://en.wikipedia.org/wiki/Bcl-2-associated_death_promoter";

-  MalaCards Disease Associations
  MalaCards Gene Search: BAD
Diseases sorted by gene-association score: alzheimer disease mitochondrial (2), prostate cancer (2), adrenal cortical adenocarcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.00 RPKM in Brain - Cortex
Total median expression: 916.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -145.90271-0.538 Picture PostScript Text
3' UTR -140.60379-0.371 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018868 - Bcl-2_BAD

Pfam Domains:
PF10514 - Pro-apoptotic Bcl-2 protein, BAD

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1G5J
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q92934
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0019901 protein kinase binding
GO:0019903 protein phosphatase binding
GO:0030346 protein phosphatase 2B binding
GO:0043422 protein kinase B binding
GO:0046982 protein heterodimerization activity
GO:0071889 14-3-3 protein binding

Biological Process:
GO:0001666 response to hypoxia
GO:0001836 release of cytochrome c from mitochondria
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
GO:0006007 glucose catabolic process
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007283 spermatogenesis
GO:0008283 cell proliferation
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009725 response to hormone
GO:0009749 response to glucose
GO:0010033 response to organic substance
GO:0010508 positive regulation of autophagy
GO:0010918 positive regulation of mitochondrial membrane potential
GO:0014070 response to organic cyclic compound
GO:0019050 suppression by virus of host apoptotic process
GO:0019221 cytokine-mediated signaling pathway
GO:0021987 cerebral cortex development
GO:0032024 positive regulation of insulin secretion
GO:0032355 response to estradiol
GO:0032570 response to progesterone
GO:0033133 positive regulation of glucokinase activity
GO:0033574 response to testosterone
GO:0034201 response to oleic acid
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0042593 glucose homeostasis
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043200 response to amino acid
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0044342 type B pancreatic cell proliferation
GO:0045471 response to ethanol
GO:0045579 positive regulation of B cell differentiation
GO:0045582 positive regulation of T cell differentiation
GO:0045862 positive regulation of proteolysis
GO:0046031 ADP metabolic process
GO:0046034 ATP metabolic process
GO:0046902 regulation of mitochondrial membrane permeability
GO:0046931 pore complex assembly
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051384 response to glucocorticoid
GO:0051592 response to calcium ion
GO:0060139 positive regulation of apoptotic process by virus
GO:0060154 cellular process regulating host cell cycle in response to virus
GO:0071247 cellular response to chromate
GO:0071260 cellular response to mechanical stimulus
GO:0071316 cellular response to nicotine
GO:0071396 cellular response to lipid
GO:0071456 cellular response to hypoxia
GO:0090200 positive regulation of release of cytochrome c from mitochondria
GO:0097190 apoptotic signaling pathway
GO:0097191 extrinsic apoptotic signaling pathway
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
GO:0097193 intrinsic apoptotic signaling pathway
GO:0097202 activation of cysteine-type endopeptidase activity
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
GO:1901216 positive regulation of neuron death
GO:1902220 positive regulation of intrinsic apoptotic signaling pathway in response to osmotic stress
GO:2000078 positive regulation of type B pancreatic cell development
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF211208 - JP 2014500723-A/18711: Polycomb-Associated Non-Coding RNAs.
MA446785 - JP 2018138019-A/18711: Polycomb-Associated Non-Coding RNAs.
LF385501 - JP 2014500723-A/193004: Polycomb-Associated Non-Coding RNAs.
MA621078 - JP 2018138019-A/193004: Polycomb-Associated Non-Coding RNAs.
U66879 - Homo sapiens Bcl-2 binding component 6 (bbc6) mRNA, complete cds.
AF021792 - Homo sapiens Bcl-X/Bcl-2 binding protein (BAD) mRNA, partial cds.
BC001901 - Homo sapiens BCL2-associated agonist of cell death, mRNA (cDNA clone MGC:2100 IMAGE:3537914), complete cds.
AK303051 - Homo sapiens cDNA FLJ61193 complete cds, highly similar to Bcl2 antagonist of cell death.
BC095431 - Homo sapiens BCL2-associated agonist of cell death, mRNA (cDNA clone MGC:111080 IMAGE:30377088), complete cds.
AK291863 - Homo sapiens cDNA FLJ75743 complete cds, highly similar to Homo sapiens BCL2-antagonist of cell death (BAD), transcript variant 1, mRNA.
JD191060 - Sequence 172084 from Patent EP1572962.
JD128860 - Sequence 109884 from Patent EP1572962.
JD230954 - Sequence 211978 from Patent EP1572962.
JD516400 - Sequence 497424 from Patent EP1572962.
JD127429 - Sequence 108453 from Patent EP1572962.
AF031523 - Homo sapiens bcl-xL/bcl-2 associated death promoter (BAD) mRNA, complete cds.
CR541935 - Homo sapiens full open reading frame cDNA clone RZPDo834A0634D for gene BAD, BCL2-antagonist of cell death; complete cds, incl. stopcodon.
KJ890752 - Synthetic construct Homo sapiens clone ccsbBroadEn_00146 BAD gene, encodes complete protein.
AB451254 - Homo sapiens BAD mRNA for BCL2-antagonist of cell death protein, complete cds, clone: FLJ08066AAAN.
BT006678 - Homo sapiens BCL2-antagonist of cell death mRNA, complete cds.
DQ895784 - Synthetic construct Homo sapiens clone IMAGE:100010244; FLH187627.01L; RZPDo839B06149D BCL2-antagonist of cell death (BAD) gene, encodes complete protein.
AB451378 - Homo sapiens BAD mRNA for BCL2-antagonist of cell death protein, partial cds, clone: FLJ08066AAAF.
CR541959 - Homo sapiens full open reading frame cDNA clone RZPDo834G0534D for gene BAD, BCL2-antagonist of cell death; complete cds, without stopcodon.
AB463436 - Synthetic construct DNA, clone: pF1KB8229, Homo sapiens BAD gene for BCL2-antagonist of cell death, without stop codon, in Flexi system.
EU176363 - Synthetic construct Homo sapiens clone IMAGE:100006468; FLH187634.01X; RZPDo839C11251D BCL2-antagonist of cell death (BAD) gene, encodes complete protein.
CU674924 - Synthetic construct Homo sapiens gateway clone IMAGE:100017955 5' read BAD mRNA.
AK309150 - Homo sapiens cDNA, FLJ99191.
JD513001 - Sequence 494025 from Patent EP1572962.
JD402949 - Sequence 383973 from Patent EP1572962.
JD401229 - Sequence 382253 from Patent EP1572962.
JD533485 - Sequence 514509 from Patent EP1572962.
JD532389 - Sequence 513413 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04210 - Apoptosis
hsa04370 - VEGF signaling pathway
hsa04510 - Focal adhesion
hsa04722 - Neurotrophin signaling pathway
hsa04910 - Insulin signaling pathway
hsa05010 - Alzheimer's disease
hsa05014 - Amyotrophic lateral sclerosis (ALS)
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05212 - Pancreatic cancer
hsa05213 - Endometrial cancer
hsa05215 - Prostate cancer
hsa05218 - Melanoma
hsa05220 - Chronic myeloid leukemia
hsa05221 - Acute myeloid leukemia
hsa05223 - Non-small cell lung cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis
h_aktPathway - AKT Signaling Pathway
h_gleevecpathway - Inhibition of Cellular Proliferation by Gleevec
h_igf1rPathway - Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation
h_ptdinsPathway - Phosphoinositides and their downstream targets.
h_rasPathway - Ras Signaling Pathway
h_ceramidePathway - Ceramide Signaling Pathway
h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage
h_tffPathway - Trefoil Factors Initiate Mucosal Healing
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation
h_badPathway - Regulation of BAD phosphorylation

Reactome (by CSHL, EBI, and GO)

Protein Q92934 (Reactome details) participates in the following event(s):

R-HSA-139905 Translocation of activated BAD protein to mitochondria
R-HSA-198347 AKT phosphorylates BAD
R-HSA-205075 JNK phosphorylates BIM, BAD and other targets
R-HSA-2399941 AKT1 E17K mutant phosphorylates BAD
R-HSA-139906 Activation of BAD by calcineurin
R-HSA-139897 BAD displaces tBID from BCL-2 sequestration
R-HSA-139899 Sequestration of BAD protein by 14-3-3
R-HSA-508162 BH3 only proteins associate with and inactivate anti-apoptotic BCL-XL
R-HSA-508163 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2
R-HSA-111447 Activation of BAD and translocation to mitochondria
R-HSA-198323 AKT phosphorylates targets in the cytosol
R-HSA-193648 NRAGE signals death through JNK
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-114452 Activation of BH3-only proteins
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-111453 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-5663202 Diseases of signal transduction
R-HSA-109581 Apoptosis
R-HSA-162582 Signal Transduction
R-HSA-73887 Death Receptor Signalling
R-HSA-1643685 Disease
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: BAD_HUMAN, BBC6, BCL2L8, NM_004322, O14803, Q6FH21, Q92934, uc001nzc.1, uc001nzc.2, uc001nzc.3, uc001nzc.4
UCSC ID: uc001nzc.4
RefSeq Accession: NM_004322
Protein: Q92934 (aka BAD_HUMAN)
CCDS: CCDS8065.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.