• Gene id: 80325

Gene Summary

• Gene Symbol: ABTB1   Gene   UCSC   Ensembl
• Aliases: BPOZ, BTB3, BTBD21, EF1ABP, PP2259
• Gene name: ankyrin repeat and BTB domain containing 1
• Alternate names: ankyrin repeat and BTB/POZ domain-containing protein 1, ankyrin repeat and BTB (POZ) domain containing 1, elongation factor 1A-binding protein,
• Gene location: 3q21.3 (127672927: 127680925)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate
• OMIM: 607114

Protein Summary

• Protein general information: Q969K4  
  • Name: Ankyrin repeat and BTB/POZ domain containing protein 1 (Elongation factor 1A binding protein)
  • Length: 478  
  • Mass: 53979
  • Tissue specificity: Ubiquitously expressed in all fetal tissues examined including heart, brain, liver, and kidney. Also expressed at lower levels in both adult heart and hypertrophic heart. {ECO
• Sequence:

  MDTSDLFASCRKGDVGRVRYLLEQRDVEVNVRDKWDSTPLYYACLCGHEELVLYLLANGARCEANTFDGERCLYG
  ALSDPIRRALRDYKQVTASCRRRDYYDDFLQRLLEQGIHSDVVFVVHGKPFRVHRCVLGARSAYFANMLDTKWKG
  KSVVVLRHPLINPVAFGALLQYLYTGRLDIGVEHVSDCERLAKQCQLWDLLSDLEAKCEKVSEFVASKPGTCVKV
  LTIEPPPADPRLREDMALLADCALPPELRGDLWELPFPCPDGFNSCPDICFRVAGCSFLCHKAFFCGRSDYFRAL
  LDDHFRESEEPATSGGPPAVTLHGISPDVFTHVLYYMYSDHTELSPEAAYDVLSVADMYLLPGLKRLCGRSLAQM
  LDEDTVVGVWRVAKLFRLARLEDQCTEYMAKVIEKLVEREDFVEAVKEEAAAVAARQETDSIPLVDDIRFHVAST
  VQTYSAIEEAQQRLRALEDLLVSIGLDC

• Structural information:
  • Protein Domains: (115..18-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (272..34-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR000210  IPR011333  
  • Prosite: PS50297 PS50088 PS50097
  • STRING: ENSP00000232744
• Other Databases: GeneCards:  ABTB1  Malacards:  ABTB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006414	translational elongation	IEA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005737	cytoplasm	IEA	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:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray