• Gene id: 56899

Gene Summary

• Gene Symbol: ANKS1B   Gene   UCSC   Ensembl
• Aliases: AIDA, AIDA-1, ANKS2, EB-1, EB1, cajalin-2
• Gene name: ankyrin repeat and sterile alpha motif domain containing 1B
• Alternate names: ankyrin repeat and sterile alpha motif domain-containing protein 1B, E2a-Pbx1-associated protein, amyloid-beta precursor protein intracellular domain associated protein 1, cajalin 2,
• Gene location: 12q23.1 (99984772: 98729903)     Exons: 40     NC_000012.12
• Gene summary(Entrez): This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's dise
• OMIM: 610663

Protein Summary

• Protein general information: Q7Z6G8  
  • Name: Ankyrin repeat and sterile alpha motif domain containing protein 1B (Amyloid beta protein intracellular domain associated protein 1) (AIDA 1) (E2A PBX1 associated protein) (EB 1)
  • Length: 1248  
  • Mass: 138066
  • Tissue specificity: Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 i
• Sequence:

  MGKDQELLEAARTGNVALVEKLLSGRKGGILGGGSGPLPLSNLLSIWRGPNVNCTDSSGYTALHHAALNGHKDIV
  LKLLQYEASTNVADNKGYFPIHLAAWKGDVEIVKILIHHGPSHSRVNEQNNENETALHCAAQYGHSEVVAVLLEE
  LTDPTIRNSKLETPLDLAALYGRLRVVKMIISAHPNLMSCNTRKHTPLHLAARNGHKAVVQVLLEAGMDVSCQTE
  KGSALHEAALFGKVDVVRVLLETGIDANIKDSLGRTVLDILKEHPSQKSLQIATLLQEYLEGVGRSTVLEEPVQE
  DATQETHISSPVESPSQKTKSETVTGELSKLLDEIKLCQEKDYSFEDLCHTISDHYLDNLSKISEEELGKNGSQS
  VRTSSTINLSPGEVEEEDDDENTCGPSGLWEALTPCNGCRNLGFPMLAQESYPKKRNYTMEIVPSASLDTFPSEN
  ENFLCDLMDTAVTKKPCSLEIARAPSPRTDNASEVAVTTPGTSNHRNSSTGPTPDCSPPSPDTALKNIVKVIRPQ
  PKQRTSIVSSLDFHRMNHNQEYFEINTSTGCTSFTASPPASPPTSSVGTTEVKNEGTNHTDDLSRQDDNDPPKEY
  DPGQFAGLLHGSSPACESPENPFHLYGKREQCEKGQDEVSLANSPLPFKQSPIENNSEPLVKKIKPKVVSRTIFH
  KKSNQLENHTIVGTRSTRSGSRNGDQWVMNAGGFVERACTLGRIRSLPKALIDMHLSKSVSKSDSDLIAYPSNEK
  TSRVNWSESSTAEHSSKGNSERTPSFTSEWEEIDKIMSSIDVGINNELKEMNGETTRPRCPVQTVGQWLESIGLP
  QYENHLMANGFDNVQFMGSNVMEDQDLLEIGILNSGHRQRILQAIQLLPKMRPIGHDGYHPTSVAEWLDSIELGD
  YTKAFLINGYTSMDLLKKIWEVELINVLKINLIGHRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSP
  SLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQMAQTGDWGEPSITLRPPNEATASTPVQYWQH
  HPEKLIFQSCDYKAFYLGSMLIKELRGTESTQDACAKMRANCQKSTEQMKKVPTIILSVSYKGVKFIDATNKNII
  AEHEIRNISCAAQDPEDLSTFAYITKDLKSNHHYCHVFTAFDVNLAYEIILTLGQAFEVAYQLALQARKGGHSST
  LPESFENKPSKPIPKPRVSIRKSVDLLHASHTGQEPSERHTEEALRKF

• Structural information:
  • Protein Domains: (810..87-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (884..94-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (1056..121-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR033636  IPR002110  IPR020683  IPR036770  IPR011993   IPR006020  IPR001660  IPR013761  IPR041880  IPR041882  
  • Prosite: PS50297 PS50088 PS01179 PS50105
  • CDD: cd09499 cd09500
  • PDB: 2EAM 2KE7 2KIV 2M38
  • PDBsum: 2EAM 2KE7 2KIV 2M38
  • DIP: 41406
  • STRING: ENSP00000449629
• Other Databases: GeneCards:  ANKS1B  Malacards:  ANKS1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0046875	ephrin receptor binding	IBA	molecular function
GO:0048013	ephrin receptor signaling pathway	IBA	biological process
GO:0046875	ephrin receptor binding	IPI	molecular function
GO:1900383	regulation of synaptic plasticity by receptor localization to synapse	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray