BAG1 BAG cochaperone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BAG1provided by HGNC
Official Full Name: BAG cochaperone 1provided by HGNC
Primary source: HGNC:HGNC:937
See related: Ensembl:ENSG00000107262 MIM:601497; AllianceGenome:HGNC:937
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: HAP; BAG-1; RAP46
Summary: The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in kidney (RPKM 19.7), colon (RPKM 18.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33252471..33264708, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33271122..33283355, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33252469..33264706, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRISPR/Cas9-mediated Bag-1 knockout increased mesenchymal characteristics of MCF-7 cells via Akt hyperactivation-mediated actin cytoskeleton remodeling.
Title: CRISPR/Cas9-mediated Bag-1 knockout increased mesenchymal characteristics of MCF-7 cells via Akt hyperactivation-mediated actin cytoskeleton remodeling.
Mutation of the BAG-1 domain decreases its protective effect against hypoxia/reoxygenation by regulating HSP70 and the PI3K/AKT signalling pathway in SY-SH5Y cells.
Title: Mutation of the BAG-1 domain decreases its protective effect against hypoxia/reoxygenation by regulating HSP70 and the PI3K/AKT signalling pathway in SY-SH5Y cells.
Bag-1L Protects against Cell Apoptosis in an In Vitro Model of Lung Ischemia-Reperfusion Injury through the C-Terminal ""Bag"" Domain.
Title: Bag-1L Protects against Cell Apoptosis in an In Vitro Model of Lung Ischemia-Reperfusion Injury through the C-Terminal "Bag" Domain.
Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma.
Title: Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma.
Genes involved in glucocorticoid receptor signalling affect susceptibility to mood disorders.
Title: Genes involved in glucocorticoid receptor signalling affect susceptibility to mood disorders.
Inhibition of BAG-1 induced SH-SY5Y cell apoptosis without affecting Hsp70 expression.
Title: Inhibition of BAG-1 induced SH-SY5Y cell apoptosis without affecting Hsp70 expression.
Expression of BAG1 is associated with prognosis in kidney renal clear cell carcinoma based on bioinformatics.
Title: Expression of BAG1 is associated with prognosis in kidney renal clear cell carcinoma based on bioinformatics.
Co-Chaperone Bag-1 Plays a Role in the Autophagy-Dependent Cell Survival through Beclin 1 Interaction.
Title: Co-Chaperone Bag-1 Plays a Role in the Autophagy-Dependent Cell Survival through Beclin 1 Interaction.
The Small Nuclear Ribonucleoprotein Polypeptide A (SNRPA) binds to the G-quadruplex of the BAG-1 5'UTR.
Title: The Small Nuclear Ribonucleoprotein Polypeptide A (SNRPA) binds to the G-quadruplex of the BAG-1 5'UTR.
Bag-1 is overexpressed in breast tumors in all molecular subtypes. Bag-1 forms complexes with B-Raf, C-Raf and Akt in breast cancer cells, enhancing their phosphorylation and activation, and ultimately leading to phosphorylation of the pro-apoptotic Bad protein at Ser112 and Ser136. This causes Bad's re-localization to the nucleus, and inhibits apoptosis in favor of cell survival.
Title: Bag-1 stimulates Bad phosphorylation through activation of Akt and Raf kinases to mediate cell survival in breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of BAG-1 in Kaposi's sarcoma cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18169 (e-PCR)
- UniSTS:49964

A002S09 (e-PCR)
- UniSTS:29234

RH69938 (e-PCR)
- UniSTS:14412

STS-Z35491 (e-PCR)
- UniSTS:68478

STS-S83171 (e-PCR)
- UniSTS:38835

GDB:335751 (e-PCR)
- UniSTS:156601

D9S1064E (e-PCR)
- UniSTS:151281

RH47281 (e-PCR)
- UniSTS:85239

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in chaperone cofactor-dependent protein refolding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of smooth muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BAG family molecular chaperone regulator 1

Names: BCL2 associated athanogene 1; BCL2-associated athanogene; Bcl-2 associating athanogene-1 protein; Bcl-2-binding protein; glucocortoid receptor-associated protein RAP46; receptor-associated protein, 46-KD

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_029018.2 RefSeqGene

Range

5000..17237

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172415.2 → NP_001165886.1 BAG family molecular chaperone regulator 1 isoform BAG-1S

Status: REVIEWED

Description

Transcript Variant: This transcript (1) encodes multiple isoforms due to the use of alternative translation initiation codons. The longest isoform (BAG-1L or p50) is derived from an upstream non-AUG (CUG) start codon, while three shorter isoforms are derived from downstream AUG start codons. The most abundant of the shorter isoforms (BAG-1S, also known as p33 or p36), which is derived from the second downstream AUG start codon, is represented in this RefSeq.

Source sequence(s)

AL161445, AL356472

Consensus CDS

CCDS55301.1

UniProtKB/Swiss-Prot

Q99933

Related

ENSP00000369026.2, ENST00000379704.7

Conserved Domains (3) summary

smart00213
Location:41 → 105

UBQ; Ubiquitin homologues

smart00264
Location:131 → 211

BAG; BAG domains, present in regulator of Hsp70 proteins

cl00155
Location:29 → 105

UBQ; Ubiquitin-like proteins
NM_001349286.2 → NP_001336215.1 BAG family molecular chaperone regulator 1 isoform BAG-1M

Status: REVIEWED

Description

Transcript Variant: Transcript Variant: This transcript (1) encodes multiple isoforms due to the use of alternative translation initiation codons. The longest isoform (BAG-1L or p50) is derived from an upstream non-AUG (CUG) start codon, while three shorter isoforms are derived from downstream AUG start codons. One of the shorter isoforms (BAG-1M, also known as p46), which is derived from the first downstream AUG start codon, is represented in this RefSeq.

Source sequence(s)

AL161445, AL356472

UniProtKB/TrEMBL

A0A0S2Z3K4

Conserved Domains (3) summary

smart00264
Location:175 → 255

BAG; BAG domains, present in regulator of Hsp70 proteins

cl00155
Location:73 → 149

UBQ; Ubiquitin-like proteins

cl26511
Location:2 → 67

Neuromodulin_N; Gap junction protein N-terminal region
NM_001349299.2 → NP_001336228.1 BAG family molecular chaperone regulator 1 isoform BAG1

Status: REVIEWED

Description

Transcript Variant: Transcript Variant: This transcript (1) encodes multiple isoforms due to the use of alternative translation initiation codons. The longest isoform (BAG-1L or p50) is derived from an upstream non-AUG (CUG) start codon, while three shorter isoforms are derived from downstream AUG start codons. A minor, shorter isoform (BAG-1, also known as p29), is derived from the third downstream AUG start codon, and is represented in this RefSeq.

Source sequence(s)

AL161445, AL356472

Conserved Domains (2) summary

smart00264
Location:108 → 188

BAG; BAG domains, present in regulator of Hsp70 proteins

cl00155
Location:6 → 82

UBQ; Ubiquitin-like proteins
NM_004323.6 → NP_004314.6 BAG family molecular chaperone regulator 1 isoform BAG-1L

Status: REVIEWED

Description

Transcript Variant: This transcript (1) encodes multiple isoforms due to the use of alternative translation initiation codons. The longest isoform (BAG-1L or p50) is derived from an upstream non-AUG (CUG) start codon, while three shorter isoforms are derived from downstream AUG start codons. The longest isoform (BAG-1L) is represented in this RefSeq.

Source sequence(s)

AL161445, AL356472

Consensus CDS

CCDS35004.1

UniProtKB/Swiss-Prot

O75315, Q14414, Q53H32, Q5VZE8, Q5VZE9, Q5VZF0, Q96TG2, Q99933, Q9Y2V4

UniProtKB/TrEMBL

J3QTA2

Related

ENSP00000489189.2, ENST00000634734.3

Conserved Domains (3) summary

cd01812
Location:144 → 220

BAG1_N; Ubiquitin-like domain of BAG1

smart00264
Location:246 → 326

BAG; BAG domains, present in regulator of Hsp70 proteins

cl26511
Location:64 → 138

Neuromodulin_N; Gap junction protein N-terminal region