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Aliases for BAG6 Gene

Aliases for BAG6 Gene

  • BCL2 Associated Athanogene 6 2 3 5
  • BAG Family Molecular Chaperone Regulator 6 3 4
  • HLA-B Associated Transcript 3 2 3
  • HLA-B-Associated Transcript 3 3 4
  • BCL2-Associated Athanogene 6 3 4
  • Protein Scythe 3 4
  • Protein G3 3 4
  • BAG-6 3 4
  • BAT3 3 4
  • G3 3 4
  • Large Proline-Rich Protein BAT3 3
  • HLA-B Associated Transcript-3 3
  • D6S52E 3
  • Scythe 3

External Ids for BAG6 Gene

Previous HGNC Symbols for BAG6 Gene

  • BAT3

Previous GeneCards Identifiers for BAG6 Gene

  • GC06M031392
  • GC06M031632
  • GC06M031636
  • GC06M031643
  • GC06M031648
  • GC06M031666
  • GC06M031697

Summaries for BAG6 Gene

Entrez Gene Summary for BAG6 Gene

  • This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BAG6 Gene

BAG6 (BCL2 Associated Athanogene 6) is a Protein Coding gene. Diseases associated with BAG6 include discrete subaortic stenosis and acute diarrhea. Among its related pathways are Natural Killer Cell Receptors: Human Target Cell ?€“ NK Cell Ligand-Receptor Interactions. GO annotations related to this gene include ubiquitin protein ligase binding and Hsp70 protein binding.

UniProtKB/Swiss-Prot for BAG6 Gene

  • Chaperone that plays a key role in various processes such as apoptosis, insertion of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane and regulation of chromatin. Key component of the BAG6/BAT3 complex, a cytosolic multiprotein complex involved in the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region. BAG6/BAT3 acts by facilitating TA membrane proteins capture by ASNA1/TRC40: it is recruited to ribosomes synthesizing membrane proteins, interacts with the transmembrane region of newly released TA proteins and transfers them to ASNA1/TRC40 for targeting to the endoplasmic reticulum membrane. Moreover, it regulates the stability and the degradation of proteins by the proteasome. For instance, it is required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, may play a role in immuno-proteasomes to generate antigenic peptides via targeted degradation, thereby playing a role in antigen presentation in immune response. It is also involved in ubiquitin-mediated proteasomal degradation of proteins of the secretory pathway that are mislocalized to the cytosol. Binds the mislocalized proteins, preventing their aggregation in the cytosol, and promotes their ubiquitination. Participates in endoplasmic reticulum stress-induced apoptosis via its interaction with AIFM1/AIF by regulating AIFM1/AIF stability and preventing its degradation. Also required during spermatogenesis for synaptonemal complex assembly via its interaction with HSPA2, by inhibiting polyubiquitination and subsequent proteasomal degradation of HSPA2.

  • Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity. When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 Lys-4 dimethylation (H3K4me2).

  • Can be released from tumor and dendritic cells in membrane vesicles or exosomes, and engage NCR3 thereby promoting natural killer cells (NK) activation and cytotoxicity.

Gene Wiki entry for BAG6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAG6 Gene

Genomics for BAG6 Gene

Regulatory Elements for BAG6 Gene

Promoters for BAG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BAG6 on UCSC Golden Path with GeneCards custom track

Genomic Location for BAG6 Gene

Chromosome:
6
Start:
31,639,028 bp from pter
End:
31,660,767 bp from pter
Size:
21,740 bases
Orientation:
Minus strand

Genomic View for BAG6 Gene

Genes around BAG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for BAG6 Gene

  • Protein details for BAG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46379-BAG6_HUMAN
    Recommended name:
    Large proline-rich protein BAG6
    Protein Accession:
    P46379
    Secondary Accessions:
    • A2ADJ7
    • A3KQ42
    • A3KQ44
    • A6NGY6
    • A6PWF7
    • B0UX84
    • B4DZ12
    • B4E3V4
    • E7EMZ4
    • F8VXY4
    • O95874
    • Q5HYL9
    • Q5SQ35
    • Q5SQ36
    • Q5SQ37
    • Q5SQ41
    • Q5SRP8
    • Q5SRP9
    • Q5STC1
    • Q5STX1
    • Q5STX3
    • Q96SA6
    • Q9BCN4

    Protein attributes for BAG6 Gene

    Size:
    1132 amino acids
    Molecular mass:
    119409 Da
    Quaternary structure:
    • Component of the BAT3 complex, at least composed of BAG6/BAT3, UBL4A and GET4/TRC35. Interacts with AIFM1, CTCFL, HSPA2 and p300/EP300. Interacts with ricin A chain. Interacts with L.pneumophila proteins Lpg2160 and LegU1. Interacts with NCR3. Interacts (via ubiquitin-like domain) with RNF126; required for BAG6-dependent ubiquitination of proteins mislocalized to the cytosol.
    SequenceCaution:
    • Sequence=AAD18085.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB63390.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI18318.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAG6 Gene

    Alternative splice isoforms for BAG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAG6 Gene

Proteomics data for BAG6 Gene at MOPED

Post-translational modifications for BAG6 Gene

  • Cleavage by caspase-3 releases a C-terminal peptide that plays a role in ricin-induced apoptosis.
  • In case of infection by L.pneumophila, ubiquitinated by the SCF(LegU1) complex.
  • Ubiquitination at Lys 22, Lys 40, Lys 56, Lys 80, Lys 1049, Lys 1052, and Lys 1072
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BAG6 (BAT3)

No data available for DME Specific Peptides for BAG6 Gene

Domains & Families for BAG6 Gene

Gene Families for BAG6 Gene

Protein Domains for BAG6 Gene

Graphical View of Domain Structure for InterPro Entry

P46379

UniProtKB/Swiss-Prot:

BAG6_HUMAN :
  • Contains 1 ubiquitin-like domain.
Domain:
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with BAG6: view

Function for BAG6 Gene

Molecular function for BAG6 Gene

UniProtKB/Swiss-Prot Function:
Chaperone that plays a key role in various processes such as apoptosis, insertion of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane and regulation of chromatin. Key component of the BAG6/BAT3 complex, a cytosolic multiprotein complex involved in the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region. BAG6/BAT3 acts by facilitating TA membrane proteins capture by ASNA1/TRC40: it is recruited to ribosomes synthesizing membrane proteins, interacts with the transmembrane region of newly released TA proteins and transfers them to ASNA1/TRC40 for targeting to the endoplasmic reticulum membrane. Moreover, it regulates the stability and the degradation of proteins by the proteasome. For instance, it is required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, may play a role in immuno-proteasomes to generate antigenic peptides via targeted degradation, thereby playing a role in antigen presentation in immune response. It is also involved in ubiquitin-mediated proteasomal degradation of proteins of the secretory pathway that are mislocalized to the cytosol. Binds the mislocalized proteins, preventing their aggregation in the cytosol, and promotes their ubiquitination. Participates in endoplasmic reticulum stress-induced apoptosis via its interaction with AIFM1/AIF by regulating AIFM1/AIF stability and preventing its degradation. Also required during spermatogenesis for synaptonemal complex assembly via its interaction with HSPA2, by inhibiting polyubiquitination and subsequent proteasomal degradation of HSPA2.
UniProtKB/Swiss-Prot Function:
Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity. When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 Lys-4 dimethylation (H3K4me2).
UniProtKB/Swiss-Prot Function:
Can be released from tumor and dendritic cells in membrane vesicles or exosomes, and engage NCR3 thereby promoting natural killer cells (NK) activation and cytotoxicity.
genes like me logo Genes that share phenotypes with BAG6: view

Animal Models for BAG6 Gene

MGI Knock Outs for BAG6:

Animal Model Products

Inhibitory RNA Products

Clone Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAG6 Gene

Localization for BAG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAG6 Gene

Cytoplasm, cytosol. Nucleus. Note=The C-terminal fragment generated by caspase-3 is cytoplasmic. Also found in extracellular vesicular exosomes in some tumor cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAG6 Gene COMPARTMENTS Subcellular localization image for BAG6 gene
Compartment Confidence
cytosol 4
nucleus 4
chloroplast 2
mitochondrion 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17403783
genes like me logo Genes that share ontologies with BAG6: view

Pathways & Interactions for BAG6 Gene

genes like me logo Genes that share pathways with BAG6: view

Pathways by source for BAG6 Gene

Gene Ontology (GO) - Biological Process for BAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development ISS --
GO:0006810 transport IEA --
GO:0007130 synaptonemal complex assembly ISS --
GO:0016568 chromatin modification IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with BAG6: view

No data available for SIGNOR curated interactions for BAG6 Gene

Drugs & Compounds for BAG6 Gene

(1) Drugs for BAG6 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbamazepine Approved, Investigational Pharma 118
genes like me logo Genes that share compounds with BAG6: view

Transcripts for BAG6 Gene

Unigene Clusters for BAG6 Gene

BCL2-associated athanogene 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BAG6 Gene

No ASD Table

Relevant External Links for BAG6 Gene

GeneLoc Exon Structure for
BAG6
ECgene alternative splicing isoforms for
BAG6

Expression for BAG6 Gene

mRNA expression in normal human tissues for BAG6 Gene

Protein differential expression in normal tissues from HIPED for BAG6 Gene

This gene is overexpressed in Bone (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BAG6 Gene



SOURCE GeneReport for Unigene cluster for BAG6 Gene Hs.440900

genes like me logo Genes that share expression patterns with BAG6: view

Protein tissue co-expression partners for BAG6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BAG6 Gene

Orthologs for BAG6 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAG6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAG6 35
  • 90.43 (n)
  • 94.22 (a)
BAG6 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAG6 35
  • 89.87 (n)
  • 94.71 (a)
BAG6 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bag6 35
  • 86.74 (n)
  • 90.93 (a)
Bag6 16
Bag6 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bag6 35
  • 87.15 (n)
  • 91.03 (a)
oppossum
(Monodelphis domestica)
Mammalia BAG6 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia BAG6 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bag6 35
  • 58.84 (n)
  • 56.34 (a)
Str.61 35
African clawed frog
(Xenopus laevis)
Amphibia bat2-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii bag6 35
  • 58.75 (n)
  • 55.99 (a)
bat3 35
bag6 36
  • 45 (a)
OneToMany
BAG6 (2 of 2) 36
  • 47 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5950 35
fruit fly
(Drosophila melanogaster)
Insecta CG7546 36
  • 18 (a)
OneToOne
Species with no ortholog for BAG6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAG6 Gene

ENSEMBL:
Gene Tree for BAG6 (if available)
TreeFam:
Gene Tree for BAG6 (if available)

Paralogs for BAG6 Gene

genes like me logo Genes that share paralogs with BAG6: view

No data available for Paralogs for BAG6 Gene

Variants for BAG6 Gene

Sequence variations from dbSNP and Humsavar for BAG6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1052486 - 31,642,909(-) GAGGG(C/T)CTGGT intron-variant, reference, missense
rs11548856 - 31,642,174(-) TGCTG(C/T)CTTCA reference, missense
rs760293 -- 31,644,000(-) CTGAA(A/G)TTCTC intron-variant
rs743400 -- 31,639,334(-) GACAG(C/T)GTGCT intron-variant
rs750332 -- 31,639,273(-) ATCAT(A/G)GGGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAG6 Gene

Variant ID Type Subtype PubMed ID
nsv830627 CNV Loss 17160897
nsv884418 CNV Gain 21882294
nsv462871 CNV Loss 19166990
dgv6581n71 CNV Loss 21882294
nsv884423 CNV Loss 21882294

Variation tolerance for BAG6 Gene

Residual Variation Intolerance Score: 1.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAG6 Gene

HapMap Linkage Disequilibrium report
BAG6
Human Gene Mutation Database (HGMD)
BAG6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAG6 Gene

Disorders for BAG6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BAG6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
discrete subaortic stenosis
acute diarrhea
subvalvular aortic stenosis
  • aortic stenosis, subvalvular
non-invasive bladder papillary urothelial neoplasm
  • bladder papillary neoplasm of low malignant potential
coronary artery aneurysm
  • coronary aneurysm
- elite association - COSMIC cancer census association via MalaCards
Search BAG6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BAG6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAG6
genes like me logo Genes that share disorders with BAG6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAG6 Gene

Publications for BAG6 Gene

  1. A gene pair from the human major histocompatibility complex encodes large proline-rich proteins with multiple repeated motifs and a single ubiquitin-like domain. (PMID: 2156268) Banerji J. … Spies T. (Proc. Natl. Acad. Sci. U.S.A. 1990) 2 3 4 23 67
  2. Human leukocyte antigen-B-associated transcript 3 is released from tumor cells and engages the NKp30 receptor on natural killer cells. (PMID: 18055229) Pogge von Strandmann E. … Engert A. (Immunity 2007) 3 23
  3. Cloning and characterization of rat BAT3 cDNA. (PMID: 10390159) Ozaki T. … Sakiyama S. (DNA Cell Biol. 1999) 3 23
  4. Novel detection of restriction fragment length polymorphisms in the human major histocompatibility complex. (PMID: 1684176) Cross S.J. … Campbell R.D. (Immunogenetics 1991) 3 23
  5. Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6. (PMID: 25231575) Etokebe G.E. … Dembic Z. (J. Orthop. Res. 2015) 3

Products for BAG6 Gene

Sources for BAG6 Gene

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