BAG4 BCL2-associated athanogene 4 [Homo sapiens] - Gene

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Summary

Official Symbol: BAG4provided by HGNC
Official Full Name: BCL2-associated athanogene 4provided by HGNC
Primary source: HGNC:940
See related: Ensembl:ENSG00000156735; HPRD:04861; MIM:603884; Vega:OTTHUMG00000164064
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SODD; BAG-4
Summary: The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

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Genomic context

Location :: 8p11.23

Sequence :: Chromosome: 8; NC_000008.10 (38034106..38070819)

See BAG4 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma.
Vincristine induces Jurkat cell apoptosis by downregulating expression of SODD protein and priming the death receptor pathway.
Title: [Effects of SODD and survivin on leukemia cell apoptosis induced by chemotherapeutic drugs].
BAG-4 functions as a negative regulator for apobec-1-mediated apoB mRNA editing
Title: Involvement of a chaperone regulator, Bcl2-associated athanogene-4, in apolipoprotein B mRNA editing.
SODD/BAG-4 is not only a silencer of TNFR1 but also a modulator of CD95 activity, regulating the balance of both death-promoting and -depressing signals
Title: Overexpression of the 'silencer of death domain', SODD/BAG-4, modulates both TNFR1- and CD95-dependent cell death pathways.
results of analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs > or =1.0. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 and BAG4.
Title: A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.
Gene induces transformed phenotype when overexpressed in a cancer breast cell line.
Title: Multiple interacting oncogenes on the 8p11-p12 amplicon in human breast cancer.
Altered signaling of TNFalpha-TNFR1 and SODD/BAG4 is responsible for radioresistance in human HT-R15 cells.
Title: Altered signaling of TNFalpha-TNFR1 and SODD/BAG4 is responsible for radioresistance in human HT-R15 cells.
These data confirm that silencer of death domains (SODD) and death receptor 3 (DR3) are expressed in a regulated manner during renal transplant rejection, and identify DR3 as a potential inducible mediator of tubular inflammation and injury.
Title: Expression of silencer of death domains and death-receptor-3 in normal human kidney and in rejecting renal transplants.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_004865.1		BCL2	BIND	PubMed	Bcl-2 interacts with BAG-4. This interaction was modelled on a demonstrated interaction between Bcl-2 from an unspecified species and human BAG-4.
O95429	P41238	APOBEC1	HPRD	PubMed
O95429	P10415	BCL2	HPRD	PubMed
O95429	Heat shock 70 KD protein 1A	HSPA1A	HPRD	PubMed
O95429	P19438	TNFRSF1A	HPRD	PubMed
O95429	Q93038	TNFRSF25	HPRD	PubMed
BioGRID:114906	BioGRID:106836	APOBEC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114906	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114906	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114906	BioGRID:109544	HSPA8	BioGRID	PubMed	Reconstituted Complex
BioGRID:114906	BioGRID:112986	TNFRSF1A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114906	BioGRID:114258	TNFRSF25	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
chaperone binding	IEA Inferred from Electronic Annotation more info
receptor signaling protein activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
anti-apoptosis	TAS Traceable Author Statement more info	PubMed
cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info
protein folding	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info

General protein information

Preferred Names: BAG family molecular chaperone regulator 4

Names: BAG family molecular chaperone regulator 4; silencer of death domains; bcl-2-associated athanogene 4; BAG-family molecular chaperone regulator-4

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001204878.1 → NP_001191807.1 BAG family molecular chaperone regulator 4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC084024, BC000800, BM683128

Consensus CDS

CCDS56533.1

UniProtKB/TrEMBL

B4E217

Related

ENSP00000393298, OTTHUMP00000225745, ENST00000432471, OTTHUMT00000377037

Conserved Domains (1) summary

cl02539
Location:343 – 420
Blast Score: 202

BAG; BAG domain
NM_004874.3 → NP_004865.1 BAG family molecular chaperone regulator 4 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC084024, AF095194, BC000800, BM683128

Consensus CDS

CCDS6104.1

UniProtKB/Swiss-Prot

O95429

Related

ENSP00000287322, OTTHUMP00000225746, ENST00000287322, OTTHUMT00000377038

Conserved Domains (1) summary

cl02539
Location:379 – 456
Blast Score: 207

BAG; BAG domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

38034106..38070819

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

36568494..36604926

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC084024.17 (62243..98485)	None
genomic	CH471080.2	EAW63330.1
		EAW63331.1
mRNA	AF095194.2	AAD16123.2
mRNA	AF111116.1	AAD05226.1
mRNA	AI640615.1	None
mRNA	AK304072.1	BAG64979.1
mRNA	AK314020.1	BAG36731.1
mRNA	AL049466.1	None
mRNA	BC000800.1	None
mRNA	BC038505.1	AAH38505.2
mRNA	BM683128.1	None