• Gene id: 91074

Gene Summary

• Gene Symbol: ANKRD30A   Gene   UCSC   Ensembl
• Aliases: NY-BR-1
• Gene name: ankyrin repeat domain 30A
• Alternate names: ankyrin repeat domain-containing protein 30A, serologically defined breast cancer antigen NY-BR-1,
• Gene location: 10p11.21 (37125753: 37309297)     Exons: 59     NC_000010.11
• Gene summary(Entrez): This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]
• OMIM: 602765

Protein Summary

• Protein general information: Q9BXX3  
  • Name: Ankyrin repeat domain containing protein 30A (Serologically defined breast cancer antigen NY BR 1)
  • Length: 1397  
  • Mass: 158835
  • Tissue specificity: Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also expressed in many breast cancer cells. {ECO
• Sequence:

  MEEISAAAVKVVPGPERPSPFSQLVYTSNDSYIVHSGDLRKIHKAASRGQVRKLEKMTKRKKTINLNIQDAQKRT
  ALHWACVNGHEEVVTFLVDRKCQLDVLDGEHRTPLMKALQCHQEACANILIDSGADINLVDVYGNTALHYAVYSE
  ILSVVAKLLSHGAVIEVHNKASLTPLLLSITKRSEQIVEFLLIKNANANAVNKYKCTALMLAVCHGSSEIVGMLL
  QQNVDVFAADICGVTAEHYAVTCGFHHIHEQIMEYIRKLSKNHQNTNPEGTSAGTPDEAAPLAERTPDTAESLVE
  KTPDEAAPLVERTPDTAESLVEKTPDEAASLVEGTSDKIQCLEKATSGKFEQSAEETPREITSPAKETSEKFTWP
  AKGRPRKIAWEKKEDTPREIMSPAKETSEKFTWAAKGRPRKIAWEKKETPVKTGCVARVTSNKTKVLEKGRSKMI
  ACPTKESSTKASANDQRFPSESKQEEDEEYSCDSRSLFESSAKIQVCIPESIYQKVMEINREVEEPPKKPSAFKP
  AIEMQNSVPNKAFELKNEQTLRADPMFPPESKQKDYEENSWDSESLCETVSQKDVCLPKATHQKEIDKINGKLEE
  SPNKDGLLKATCGMKVSIPTKALELKDMQTFKAEPPGKPSAFEPATEMQKSVPNKALELKNEQTLRADEILPSES
  KQKDYEENSWDTESLCETVSQKDVCLPKAAHQKEIDKINGKLEGSPVKDGLLKANCGMKVSIPTKALELMDMQTF
  KAEPPEKPSAFEPAIEMQKSVPNKALELKNEQTLRADEILPSESKQKDYEESSWDSESLCETVSQKDVCLPKATH
  QKEIDKINGKLEESPDNDGFLKAPCRMKVSIPTKALELMDMQTFKAEPPEKPSAFEPAIEMQKSVPNKALELKNE
  QTLRADQMFPSESKQKKVEENSWDSESLRETVSQKDVCVPKATHQKEMDKISGKLEDSTSLSKILDTVHSCERAR
  ELQKDHCEQRTGKMEQMKKKFCVLKKKLSEAKEIKSQLENQKVKWEQELCSVRLTLNQEEEKRRNADILNEKIRE
  ELGRIEEQHRKELEVKQQLEQALRIQDIELKSVESNLNQVSHTHENENYLLHENCMLKKEIAMLKLEIATLKHQY
  QEKENKYFEDIKILKEKNAELQMTLKLKEESLTKRASQYSGQLKVLIAENTMLTSKLKEKQDKEILEAEIESHHP
  RLASAVQDHDQIVTSRKSQEPAFHIAGDACLQRKMNVDVSSTIYNNEVLHQPLSEAQRKSKSLKINLNYAGDALR
  ENTLVSEHAQRDQRETQCQMKEAEHMYQNEQDNVNKHTEQQESLDQKLFQLQSKNMWLQQQLVHAHKKADNKSKI
  TIDIHFLERKMQHHLLKEKNEEIFNYNNHLKNRIYQYEKEKAETENS

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR039497  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000354432
• Other Databases: GeneCards:  ANKRD30A  Malacards:  ANKRD30A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray