• Gene id: 342371

Gene Summary

• Gene Symbol: ATXN1L   Gene   UCSC   Ensembl
• Aliases: BOAT, BOAT1
• Gene name: ataxin 1 like
• Alternate names: ataxin-1-like, brother of ATXN1, brother of ataxin-1,
• Gene location: 16q22.2 (71845975: 71857327)     Exons: 1     NC_000016.10
• OMIM: 614301

Protein Summary

• Protein general information: P0C7T5  
  • Name: Ataxin 1 like (Brother of ataxin 1) (Brother of ATXN1)
  • Length: 689  
  • Mass: 73306
  • Tissue specificity: Expressed in cerebellum and cerebral cortex. {ECO
• Sequence:

  MKPVHERSQECLPPKKRDLPVTSEDMGRTTSCSTNHTPSSDASEWSRGVVVAGQSQAGARVSLGGDGAEAITGLT
  VDQYGMLYKVAVPPATFSPTGLPSVVNMSPLPPTFNVASSLIQHPGIHYPPLHYAQLPSTSLQFIGSPYSLPYAV
  PPNFLPSPLLSPSANLATSHLPHFVPYASLLAEGATPPPQAPSPAHSFNKAPSATSPSGQLPHHSSTQPLDLAPG
  RMPIYYQMSRLPAGYTLHETPPAGASPVLTPQESQSALEAAAANGGQRPRERNLVRRESEALDSPNSKGEGQGLV
  PVVECVVDGQLFSGSQTPRVEVAAPAHRGTPDTDLEVQRVVGALASQDYRVVAAQRKEEPSPLNLSHHTPDHQGE
  GRGSARNPAELAEKSQARGFYPQSHQEPVKHRPLPKAMVVANGNLVPTGTDSGLLPVGSEILVASSLDVQARATF
  PDKEPTPPPITSSHLPSHFMKGAIIQLATGELKRVEDLQTQDFVRSAEVSGGLKIDSSTVVDIQESQWPGFVMLH
  FVVGEQQSKVSIEVPPEHPFFVYGQGWSSCSPGRTTQLFSLPCHRLQVGDVCISISLQSLNSNSVSQASCAPPSQ
  LGPPRERPERTVLGSRELCDSEGKSQPAGEGSRVVEPSQPESGAQACWPAPSFQRYSMQGEEARAALLRPSFIPQ
  EVKLSIEGRSNAGK

• Structural information:
  • Protein Domains: (457..58-)
    (/note="AXH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00496"-)
  • Interpro: IPR003652  IPR036096  
  • Prosite: PS51148
  • STRING: ENSP00000415822
• Other Databases: GeneCards:  ATXN1L  Malacards:  ATXN1L

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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:0007613	memory	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:1902035	positive regulation of hematopoietic stem cell proliferation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0048856	anatomical structure development	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0035176	social behavior	ISS	biological process
GO:0007613	memory	ISS	biological process
GO:0007612	learning	ISS	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia
hsa04330	Notch signaling pathway

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)