• Gene id: 91748

Gene Summary

• Gene Symbol: MIDEAS   Gene   UCSC   Ensembl
• Aliases: C14orf117, C14orf43, ELMSAN1, LSR68, c14_5541
• Gene name: mitotic deacetylase associated SANT domain protein
• Alternate names: mitotic deacetylase-associated SANT domain protein, ELM2 and SANT domain-containing protein 1, ELM2 and Myb/SANT domain containing 1, ELM2 and Myb/SANT-like domain containing 1,
• Gene location: 14q24.3 (41367332: 41399327)     Exons: 5     NC_000022.11

Protein Summary

• Protein general information: Q6PJG2  
  • Name: Mitotic deacetylase associated SANT domain protein (ELM2 and SANT domain containing protein 1)
  • Length: 1045  
  • Mass: 114989
• Sequence:

  MNLQAQPKAQNKRKRCLFGGQEPAPKEQPPPLQPPQQSIRVKEEQYLGHEGPGGAVSTSQPVELPPPSSLALLNS
  VVYGPERTSAAMLSQQVASVKWPNSVMAPGRGPERGGGGGVSDSSWQQQPGQPPPHSTWNCHSLSLYSATKGSPH
  PGVGVPTYYNHPEALKREKAGGPQLDRYVRPMMPQKVQLEVGRPQAPLNSFHAAKKPPNQSLPLQPFQLAFGHQV
  NRQVFRQGPPPPNPVAAFPPQKQQQQQQPQQQQQQQQAALPQMPLFENFYSMPQQPSQQPQDFGLQPAGPLGQSH
  LAHHSMAPYPFPPNPDMNPELRKALLQDSAPQPALPQVQIPFPRRSRRLSKEGILPPSALDGAGTQPGQEATGNL
  FLHHWPLQQPPPGSLGQPHPEALGFPLELRESQLLPDGERLAPNGREREAPAMGSEEGMRAVSTGDCGQVLRGGV
  IQSTRRRRRASQEANLLTLAQKAVELASLQNAKDGSGSEEKRKSVLASTTKCGVEFSEPSLATKRAREDSGMVPL
  IIPVSVPVRTVDPTEAAQAGGLDEDGKGPEQNPAEHKPSVIVTRRRSTRIPGTDAQAQAEDMNVKLEGEPSVRKP
  KQRPRPEPLIIPTKAGTFIAPPVYSNITPYQSHLRSPVRLADHPSERSFELPPYTPPPILSPVREGSGLYFNAII
  STSTIPAPPPITPKSAHRTLLRTNSAEVTPPVLSVMGEATPVSIEPRINVGSRFQAEIPLMRDRALAAADPHKAD
  LVWQPWEDLESSREKQRQVEDLLTAACSSIFPGAGTNQELALHCLHESRGDILETLNKLLLKKPLRPHNHPLATY
  HYTGSDQWKMAERKLFNKGIAIYKKDFFLVQKLIQTKTVAQCVEFYYTYKKQVKIGRNGTLTFGDVDTSDEKSAQ
  EEVEVDIKTSQKFPRVPLPRRESPSEERLEPKREVKEPRKEGEEEVPEIQEKEEQEEGRERSRRAAAVKATQTLQ
  ANESASDILILRSHESNAPGSAGGQASEKPREGTGKSRRALPFSEKKKKTETFSKTQNQENTFPCKKCGR

• Structural information:
  • Protein Domains: (721..81-)
    (/note="ELM2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00512-)
    (828..87-)
    (/note="SANT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624"-)
  • Interpro: IPR000949  IPR009057  IPR001005  IPR017884  
  • Prosite: PS51156 PS51293
  • STRING: ENSP00000286523
• Other Databases: GeneCards:  MIDEAS  Malacards:  MIDEAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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