• Gene id: 29086

Gene Summary

• Gene Symbol: BABAM1   Gene   UCSC   Ensembl
• Aliases: C19orf62, HSPC142, MERIT40, NBA1
• Gene name: BRISC and BRCA1 A complex member 1
• Alternate names: BRISC and BRCA1-A complex member 1, BRCA1-A complex subunit MERIT40, mediator of RAP80 interactions and targeting subunit of 40 kDa, mediator of Rap80 interactions and targeting 40 kDa, new component of the BRCA1-A complex, new component of the BRCAA1 A comple,
• Gene location: 19p13.11 (17267375: 17279352)     Exons: 9     NC_000019.10
• OMIM: 612766

Protein Summary

• Protein general information: Q9NWV8  
  • Name: BRISC and BRCA1 A complex member 1 (Mediator of RAP80 interactions and targeting subunit of 40 kDa) (New component of the BRCA1 A complex)
  • Length: 329  
  • Mass: 36560
• Sequence:

  MEVAEPSSPTEEEEEEEEHSAEPRPRTRSNPEGAEDRAVGAQASVGSRSEGEGEAASADDGSLNTSGAGPKSWQV
  PPPAPEVQIRTPRVNCPEKVIICLDLSEEMSLPKLESFNGSKTNALNVSQKMIEMFVRTKHKIDKSHEFALVVVN
  DDTAWLSGLTSDPRELCSCLYDLETASCSTFNLEGLFSLIQQKTELPVTENVQTIPPPYVVRTILVYSRPPCQPQ
  FSLTEPMKKMFQCPYFFFDVVYIHNGTEEKEEEMSWKDMFAFMGSLDTKGTSYKYEVALAGPALELHNCMAKLLA
  HPLQRPCQSHASYSLLEEEDEAIEVEATV

• Structural information:
  • Interpro: IPR026126  IPR036465  
  • PDB: 6H3C
  • PDBsum: 6H3C
  • STRING: ENSP00000352408
• Other Databases: GeneCards:  BABAM1  Malacards:  BABAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070552	BRISC complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070552	BRISC complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070536	protein K63-linked deubiquitination	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070531	BRCA1-A complex	IEA	cellular component
GO:0045739	positive regulation of DNA repair	IEA	biological process
GO:0070552	BRISC complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq