• Gene id: 222255

Gene Summary

• Gene Symbol: ATXN7L1   Gene   UCSC   Ensembl
• Aliases: ATXN7L4
• Gene name: ataxin 7 like 1
• Alternate names: ataxin-7-like protein 1, ataxin 7-like 4, ataxin-7-like protein 4,
• Gene location: 7q22.3 (105877771: 105604773)     Exons: 22     NC_000007.14
• OMIM: 601917

Protein Summary

• Protein general information: Q9ULK2  
  • Name: Ataxin 7 like protein 1 (Ataxin 7 like protein 4)
  • Length: 861  
  • Mass: 91514
• Sequence:

  MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSR
  EVMRLNKEDMHLFGHYPAHDDFYLVVCSACNQVVKPQVFQSHCERRHGSMCRPSPSPVSPASNPRTSLVQVKTKA
  CLSGHHSASSTSKPFKTPKDNLLTSSSKQHTVFPAKGSRDKPCVPVPVVSLEKIPNLVKADGANVKMNSTTTTAV
  SASSTSSSAVSTPPLIKPVLMSKSVPPSPEKILNGKGILPTTIDKKHQNGTKNSNKPYRRLSEREFDPNKHCGVL
  DPETKKPCTRSLTCKTHSLSHRRAVPGRKKQFDLLLAEHKAKSREKEVKDKEHLLTSTREILPSQSGPAQDSLLG
  SSGSSGPEPKVASPAKSRPPNSVLPRPSSANSISSSTSSNHSGHTPEPPLPPVGGDLASRLSSDEGEMDGADESE
  KLDCQFSTHHPRPLAFCSFGSRLMGRGYYVFDRRWDRFRFALNSMVEKHLNSQMWKKIPPAADSPLPSPAAHITT
  PVPASVLQPFSNPSAVYLPSAPISSRLTSSYIMTSAMLSNAAFVTSPDPSALMSHTTAFPHVAATLSIMDSTFKA
  PSAVSPIPAVIPSPSHKPSKTKTSKSSKVKDLSTRSDESPSNKKRKPQSSTSSSSSSSSSSLQTSLSSPLSGPHK
  KNCVLNASSALNSYQAAPPYNSLSVHNSNNGVSPLSAKLEPSGRTSLPGGPADIVRQVGAVGGSSDSCPLSVPSL
  ALHAGDLSLASHNAVSSLPLSFDKSEGKKRKNSSSSSKACKITKMPGMNSVHKKNPPSLLAPVPDPVNSTSSRQV
  GKNSSLALSQSSPSSISSPGHSRQNTNRTGRIRTLP

• Structural information:
  • Protein Domains: (284..35-)
    (/note="SCA7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00838"-)
  • Interpro: IPR013243  
  • Prosite: PS51505
  • STRING: ENSP00000410759
• Other Databases: GeneCards:  ATXN7L1  Malacards:  ATXN7L1

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray