• Gene id: 256006

Gene Summary

• Gene Symbol: ANKRD31   Gene   UCSC   Ensembl
• Gene name: ankyrin repeat domain 31
• Alternate names: ankyrin repeat domain-containing protein 31, putative ankyrin repeat domain-containing protein 31,
• Gene location: 5q13.3 (75236921: 75068296)     Exons: 28     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by Ref
• OMIM: 604289

Protein Summary

• Protein general information: Q8N7Z5  
  • Name: Ankyrin repeat domain containing protein 31
  • Length: 1873  
  • Mass: 210816
• Sequence:

  MEEGVQAPDWDSDETVIEGSVTESDLEEKELPWRRLLFDQDASLKSEFSLHPDTRGMCKGMPSPEIQLGFKLRED
  LQEQMNKNKMMPVLSEDTILQSQDETERNQALLQTRKNCSMFIGSFRQSGLSLNHQNIEGPEAESPEVLPHIEKE
  LSEGRDSPEVSLLSGTAITVSDTVAVKETSLVEPEKILAAPNTFFEPRKEVTMTMTSEETKDEESSLETFVSALE
  SLLTSPESTQEERLFELVSDFDRKELMNPLSDSLSSISIPLNSWSACHRDLLEDAKDDALPAELLEALNTLSEAK
  VETICHRKEGGSSLIARNECLEVEFNTSQTNEDCTQIAETLQDPNPSGLQTLAHQNITSCEPLSNKRNSNSVTNS
  SDQETACVLRRSSRLEKLKVSRDAKYSDHMYKMPEKILPKILGCEDLTNNNSSAQNFRMQDPALMIDGKEKNMHS
  ARFKNGKQIRKNEQFSGKKEKMKVNKISLHSINRRNIFGENLVYKAALHDDADLVHHCIKKGGNVNQPSYAGWTA
  LHEASVGGFYRTASELLKGGADVNIKGLYQITPLHDAVMNGHYKVAELLLLNGADPLFRNDDGKCALDEAKDLCM
  KRLLERYIPKHQKCLTSAQRSSIDPLDIEDVYQHKKPKFSSKSHIWHVYNENSNRQKLEHVKVNKGSKASLFINK
  EDVYEYYQKDPKNTKFGKSKHKQSTLDQIYSTGLRKGNLHNVKDPNTNVPKGIGRRKTQHKRTQVDDVDCNPRKI
  LAVSPSRRINRLVTYQQHIPETHNDLPEELCEPSSLTLSSLRNGLDSSTEACSVSKEKHIQNLDLSDSQEVQCLE
  LESVDQTEAVSFPGLLLHKEIKLPVVTTDKQPHTLQEQHHVLYKSHENSNLVPKDERFNKWENSFLSFVKENSDN
  DDDDDCSTSEKAITSKKVLCSTGGKKHYNFKENLTNKKEMGFQQFLLSEDHLSQENELKAVSLTTLPEQEAVNFS
  YSDNAVISEHVANYEQCIFGPSFDHSNGNPEQNSLACMRTLLTHEASKLTNHVELFKKPQDYIPRAPTFLMNQTD
  THIVEKMAKNCDTERNYIDRDQKIIYSNEPLSIVAHSQVIETTKVEKRRQNHLESETIHNIDSHSTDNMSKELAN
  ISKLSQREKKEISHKPGMKAGRINKRNARGESQLHLAVRRGNLPLVKALIESGADVNLNDNAGWTPLHEASNEGS
  IDIIVELLKAGAKVNCENIDGILPLHDAVANNHLKAAEILLQNGANPNQKDQKQKSALDEADDEKMKELLRSYGA
  IETVNRDESDAIVNEKIPAVRSKRHKQCFCDDGKTIDSSSLSHQERSRESLSVHQTLSAILQDIEEKQEYLLEFE
  IRNPEDAEQYIEKMLKIKKIMDNVLAKQKAERDDLAKKYRVSIESFKHGALREQLANLAARQKSLLVVAKKQKKI
  SLKIQNCRNVTSLPCLSLRKLPPRSEISSEKDSQELTSLENLEHPQSGSLSPVSGSMQETQLSLETWNYSQNTNI
  CLNSEAVRRGEFSGNDMNSKQNGSDCTLDGFPKSRHSDGTEKNKLPSQPVAFIGQTEYSQKENDLTEATDKDHEF
  YVSSPVIGKLNISETASVLAENAAHPSNIICDQDLSNYDPKRGNRKTSSQQSPTGASESLAHQGIAVLGSDTVHQ
  MKPYLKKSVSVVPCADDSQISSSSGSGQQDTIKKALNYSTAPKKKCIQIKDLILLGRINPGNNILEFKTQETTHK
  ASILLNGKLKVESGQIYKNPVTWLKDLLGGNSYVTWNYAWSKVTYLGKELLRYVSEDAPILPEPNSVPQQYQPCL
  PEVACLDDPVQEPNKSMFEKTKFGQGTSRESMQSSPRYLQINEILLISDQEFLPCHIMDQHWKFCVECEELTP

• Structural information:
  • Protein Domains: (1683..177-)
    (/note="RAMA-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR042334  IPR002110  IPR020683  IPR036770  IPR040843  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000274361
• Other Databases: GeneCards:  ANKRD31  Malacards:  ANKRD31

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903343	positive regulation of meiotic DNA double-strand break formation	ISS	biological process
GO:0007129	synapsis	ISS	biological process
GO:0000785	chromatin	ISS	cellular component
GO:0010780	meiotic DNA double-strand break formation involved in reciprocal meiotic recombination	ISS	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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