• Gene id: 84142

Gene Summary

• Gene Symbol: ABRAXAS1   Gene   UCSC   Ensembl
• Aliases: ABRA1, CCDC98, FAM175A
• Gene name: abraxas 1, BRCA1 A complex subunit
• Alternate names: BRCA1-A complex subunit Abraxas 1, BRCA1-A complex subunit Abraxas, abraxas protein, coiled-coil domain containing 98, family with sequence similarity 175 member A,
• Gene location: 4q21.23 (83485136: 83459516)     Exons: 11     NC_000004.12
• Gene summary(Entrez): This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resista
• OMIM: 611143

Protein Summary

• Protein general information: Q6UWZ7  
  • Name: BRCA1 A complex subunit Abraxas 1 (Coiled coil domain containing protein 98) (Protein FAM175A)
  • Length: 409  
  • Mass: 46663
• Sequence:

  MEGESTSAVLSGFVLGALAFQHLNTDSDTEGFLLGEVKGEAKNSITDSQMDDVEVVYTIDIQKYIPCYQLFSFYN
  SSGEVNEQALKKILSNVKKNVVGWYKFRRHSDQIMTFRERLLHKNLQEHFSNQDLVFLLLTPSIITESCSTHRLE
  HSLYKPQKGLFHRVPLVVANLGMSEQLGYKTVSGSCMSTGFSRAVQTHSSKFFEEDGSLKEVHKINEMYASLQEE
  LKSICKKVEDSEQAVDKLVKDVNRLKREIEKRRGAQIQAAREKNIQKDPQENIFLCQALRTFFPNSEFLHSCVMS
  LKNRHVSKSSCNYNHHLDVVDNLTLMVEHTDIPEASPASTPQIIKHKALDLDDRWQFKRSRLLDTQDKRSKADTG
  SSNQDKASKMSSPETDEEIEKMKGFGEYSRSPTF

• Structural information:
  • Protein Domains: (7..16-)
    (/note="MPN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01182"-)
  • Interpro: IPR023238  IPR023239  IPR037518  
  • Prosite: PS50249
  • PDB: 4JLU 4U4A 4Y18 4Y2G
  • PDBsum: 4JLU 4U4A 4Y18 4Y2G
  • DIP: 29615
  • STRING: ENSP00000369857
• Other Databases: GeneCards:  ABRAXAS1  Malacards:  ABRAXAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090307	mitotic spindle assembly	IBA	biological process
GO:0070536	protein K63-linked deubiquitination	IBA	biological process
GO:0031593	polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0008017	microtubule binding	IBA	molecular function
GO:0008608	attachment of spindle microtubules to kinetochore	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
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:0070531	BRCA1-A complex	IDA	cellular component
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
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: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: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:0006325	chromatin organization	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0005654	nucleoplasm	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:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray