• Gene id: 53339

Gene Summary

• Gene Symbol: BTBD1   Gene   UCSC   Ensembl
• Aliases: C15orf1, NS5ATP8
• Gene name: BTB domain containing 1
• Alternate names: BTB/POZ domain-containing protein 1, BTB (POZ) domain containing 1, HCV NS5A-transactivated protein 8, hepatitis C virus NS5A-transactivated protein 8,
• Gene location: 15q25.2 (83067257: 83016422)     Exons: 8     NC_000015.10
• Gene summary(Entrez): The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in prot
• OMIM: 608530

Protein Summary

• Protein general information: Q9H0C5  
  • Name: BTB/POZ domain containing protein 1 (Hepatitis C virus NS5A transactivated protein 8) (HCV NS5A transactivated protein 8)
  • Length: 482  
  • Mass: 52771
  • Tissue specificity: Ubiquitous; highest levels in testes, heart and skeletal muscle. {ECO
• Sequence:

  MASLGPAAAGEQASGAEAEPGPAGPPPPPSPSSLGPLLPLQREPLYNWQATKASLKERFAFLFNSELLSDVRFVL
  GKGRGAAAAGGPQRIPAHRFVLAAGSAVFDAMFNGGMATTSAEIELPDVEPAAFLALLRFLYSDEVQIGPETVMT
  TLYTAKKYAVPALEAHCVEFLTKHLRADNAFMLLTQARLFDEPQLASLCLDTIDKSTMDAISAEGFTDIDIDTLC
  AVLERDTLSIRESRLFGAVVRWAEAECQRQQLPVTFGNKQKVLGKALSLIRFPLMTIEEFAAGPAQSGILSDREV
  VNLFLHFTVNPKPRVEYIDRPRCCLRGKECCINRFQQVESRWGYSGTSDRIRFTVNRRISIVGFGLYGSIHGPTD
  YQVNIQIIEYEKKQTLGQNDTGFSCDGTANTFRVMFKEPIEILPNVCYTACATLKGPDSHYGTKGLKKVVHETPA
  ASKTVFFFFSSPGNNNGTSIEDGQIPEIIFYT

• Structural information:
  • Protein Domains: (69..14-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (184..28-)
    (/note="BACK-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR011705  IPR000210  IPR012983  IPR038648  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000261721
• Other Databases: GeneCards:  BTBD1  Malacards:  BTBD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000932	P-body	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0022008	neurogenesis	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0005737	cytoplasm	IEA	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:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical 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:0000932	P-body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0000932	P-body	IDA	cellular component
GO:0043393	regulation of protein binding	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097602	cullin family protein binding	IPI	molecular function

Diseases

Associated diseases	References
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)