• Gene id: 573

Gene Summary

• Gene Symbol: BAG1   Gene   UCSC   Ensembl
• Aliases: BAG-1, HAP, RAP46
• Gene name: BAG cochaperone 1
• Alternate names: BAG family molecular chaperone regulator 1, 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,
• Gene location: 9p13.3 (33264707: 33252470)     Exons: 7     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 608639

SNPs

rs17088625

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.22790337T>C
NC_000008.10   g.22647850T>C|SEQ=[T/C]|GENE=PEBP4

rs1051266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.45537880T>C
NC_000021.9   g.45537880T>G
NC_000021.8   g.46957794T>C
NC_000021.8   g.46957794T>G
NG_028278.2   g.30264A>G
NG_028278.2   g.30264A>C
NM_194255.4   c.80A>G
NM_194255.4   c.80A>C
NM_194255.3   c.80A>G
NM_194255.3   c.80A>C
NM_194255.2   c.80A>G
  

Protein Summary

• Protein general information: Q99933  
  • Name: BAG family molecular chaperone regulator 1 (BAG 1) (Bcl 2 associated athanogene 1)
  • Length: 345  
  • Mass: 38779
  • Tissue specificity: Isoform 4 is the most abundantly expressed isoform. It is ubiquitously expressed throughout most tissues, except the liver, colon, breast and uterine myometrium. Isoform 1 is expressed in the ovary and testis. Isoform 4 is expressed in
• Sequence:

  MAQRGGARRPRGDRERLGSRLRALRPGREPRQSEPPAQRGPPPSGRPPARSTASGHDRPTRGAAAGARRPRMKKK
  TRRRSTRSEELTRSEELTLSEEATWSEEATQSEEATQGEEMNRSQEVTRDEESTRSEEVTREEMAAAGLTVTVTH
  SNEKHDLHVTSQQGSSEPVVQDLAQVVEEVIGVPQSFQKLIFKGKSLKEMETPLSALGIQDGCRVMLIGKKNSPQ
  EEVELKKLKHLEKSVEKIADQLEELNKELTGIQQGFLPKDLQAEALCKLDRRVKATIEQFMKILEEIDTLILPEN
  FKDSRLKRKGLVKKVQAFLAECDTVEQNICQETERLQSTNFALAE

• Structural information:
  • Protein Domains: (144..22-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214-)
    (246..32-)
    (/note="BAG-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00369"-)
  • Interpro: IPR017093  IPR039773  IPR036533  IPR003103  IPR000626   IPR029071  
  • Prosite: PS51035 PS50053
  • PDB: 1HX1 1WXV 3FZF 3FZH 3FZK 3FZL 3FZM 3LDQ 3M3Z 5AQF 5AQG 5AQH 5AQI 5AQJ 5AQK 5AQL 5AQM 5AQN 5AQO 5AQP 5AQQ 5AQR 5AQS 5AQT 5AQU 5AQV
  • PDBsum: 1HX1 1WXV 3FZF 3FZH 3FZK 3FZL 3FZM 3LDQ 3M3Z 5AQF 5AQG 5AQH 5AQI 5AQJ 5AQK 5AQL 5AQM 5AQN 5AQO 5AQP 5AQQ 5AQR 5AQS 5AQT 5AQU 5AQV
  • DIP: 3341
  • STRING: ENSP00000420514
• Other Databases: GeneCards:  BAG1  Malacards:  BAG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0051085	chaperone cofactor-dependent protein refolding	IDA	biological process
GO:0000774	adenyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051087	chaperone binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Prostate cancer	PMID:17503439
Endometrial cancer	PMID:15297164
Breast cancer	PMID:11181661
Cervix carcinoma	PMID:10047462
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R