• Gene id: 341405

Gene Summary

• Gene Symbol: ANKRD33   Gene   UCSC   Ensembl
• Aliases: C12orf7, PANKY
• Gene name: ankyrin repeat domain 33
• Alternate names: photoreceptor ankyrin repeat protein, ankyrin repeat domain-containing protein 33,
• Gene location: 12q13.13 (51888102: 51891726)     Exons: 6     NC_000012.12
• OMIM: 102574

Protein Summary

• Protein general information: Q7Z3H0  
  • Name: Photoreceptor ankyrin repeat protein (Ankyrin repeat domain containing protein 33)
  • Length: 452  
  • Mass: 49403
• Sequence:

  MKVQPSVTCVASWGGIVHLEAFGDPVIVLRGAWAVPRVDCLIDTLRTPNASCMRKGTHLLVPCLEEEELALHRRR
  LDMSEALPCPGKETPTPGCRLGALYWACVHNDPTQLQAILDGGVSPEEATQVDSNGRTGLMVACYHGFQSVVALL
  SHCPFLDVNQQDKGGDTALMLAAQAGHVPLVSLLLNYYVGLDLERRDQRGLTALMKAAMRNRCADLTAVDPVRGK
  TALEWAVLTDSFDTVWRIRQLLRRPQVEQLSQHYKPEWPALSGLVAQAQAQAQVAPSLLERLQATLSLPFAPSPQ
  EGGVLDHLVTATTSLASPFVTTACHTLCPDHPPSLGTRSKSVPELLGTAPPPPLVPQSPPGSPQRSPWVFVPYQS
  PQGILSKCLQWLQPRDSTSPRPQVPKILLSKASSSSHQCQPKPSPSGHQSLALPLWRYQELRIEKRKQEEEARMA
  QK

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000301190
• Other Databases: GeneCards:  ANKRD33  Malacards:  ANKRD33

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000678	negative regulation of transcription regulatory region DNA binding	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881