• Gene id: 51665

Gene Summary

• Gene Symbol: ASB1   Gene   UCSC   Ensembl
• Aliases: ASB-1
• Gene name: ankyrin repeat and SOCS box containing 1
• Alternate names: ankyrin repeat and SOCS box protein 1,
• Gene location: 2q37.3 (238426926: 238452249)     Exons: 5     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiqu
• OMIM: 603975

Protein Summary

• Protein general information: Q9Y576  
  • Name: Ankyrin repeat and SOCS box protein 1 (ASB 1)
  • Length: 335  
  • Mass: 37014
• Sequence:

  MAEGGSPDGRAGPGSAGRNLKEWLREQFCDHPLEHCEDTRLHDAAYVGDLQTLRSLLQEESYRSRINEKSVWCCG
  WLPCTPLRIAATAGHGSCVDFLIRKGAEVDLVDVKGQTALYVAVVNGHLESTQILLEAGADPNGSRHHRSTPVYH
  ASRVGRADILKALIRYGADVDVNHHLTPDVQPRFSRRLTSLVVCPLYISAAYHNLQCFRLLLLAGANPDFNCNGP
  VNTQGFYRGSPGCVMDAVLRHGCEAAFVSLLVEFGANLNLVKWESLGPESRGRRKVDPEALQVFKEARSVPRTLL
  CLCRVAVRRALGKHRLHLIPSLPLPDPIKKFLLHE

• Structural information:
  • Protein Domains: (286..33-)
    (/note="SOCS-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00194"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037331  IPR001496   IPR036036  
  • Prosite: PS50297 PS50088 PS50225
  • CDD: cd03720
  • STRING: ENSP00000264607
• Other Databases: GeneCards:  ASB1  Malacards:  ASB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	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:0030539	male genitalia development	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	contributes to
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0042036	negative regulation of cytokine biosynthetic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray