• Gene id: 57534

Gene Summary

• Gene Symbol: MIB1   Gene   UCSC   Ensembl
• Aliases: DIP-1, DIP1, LVNC7, MIB, ZZANK2, ZZZ6
• Gene name: mindbomb E3 ubiquitin protein ligase 1
• Alternate names: E3 ubiquitin-protein ligase MIB1, DAPK-interacting protein 1, RING-type E3 ubiquitin transferase MIB1, ubiquitin ligase mind bomb, zinc finger ZZ type with ankyrin repeat domain protein 2,
• Gene location: 18q11.2 (88963617: 88609896)     Exons: 19     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their en
• OMIM: 608677

Protein Summary

• Protein general information: Q86YT6  
  • Name: E3 ubiquitin protein ligase MIB1 (EC 2.3.2.27) (DAPK interacting protein 1) (DIP 1) (Mind bomb homolog 1) (RING type E3 ubiquitin transferase MIB1) (Zinc finger ZZ type with ankyrin repeat domain protein 2)
  • Length: 1006  
  • Mass: 110136
  • Tissue specificity: Widely expressed at low level. Expressed at higher level in spinal cord, ovary, whole brain, and all specific brain regions examined. {ECO
• Sequence:

  MSNSRNNRVMVEGVGARVVRGPDWKWGKQDGGEGHVGTVRSFESPEEVVVVWDNGTAANYRCSGAYDLRILDSAP
  TGIKHDGTMCDTCRQQPIIGIRWKCAECTNYDLCTVCYHGDKHHLRHRFYRITTPGSERVLLESRRKSKKITARG
  IFAGARVVRGVDWQWEDQDGGNGRRGKVTEIQDWSASSPHSAAYVLWDNGAKNLYRVGFEGMSDLKCVQDAKGGS
  FYRDHCPVLGEQNGNRNPGGLQIGDLVNIDLDLEIVQSLQHGHGGWTDGMFETLTTTGTVCGIDEDHDIVVQYPS
  GNRWTFNPAVLTKANIVRSGDAAQGAEGGTSQFQVGDLVQVCYDLERIKLLQRGHGEWAEAMLPTLGKVGRVQQI
  YSDSDLKVEVCGTSWTYNPAAVSKVASAGSAISNASGERLSQLLKKLFETQESGDLNEELVKAAANGDVAKVEDL
  LKRPDVDVNGQCAGHTAMQAASQNGHVDILKLLLKQNVDVEAEDKDGDRAVHHAAFGDEGAVIEVLHRGSADLNA
  RNKRRQTPLHIAVNKGHLQVVKTLLDFGCHPSLQDSEGDTPLHDAISKKRDDILAVLLEAGADVTITNNNGFNAL
  HHAALRGNPSAMRVLLSKLPRPWIVDEKKDDGYTALHLAALNNHVEVAELLVHQGNANLDIQNVNQQTALHLAVE
  RQHTQIVRLLVRAGAKLDIQDKDGDTPLHEALRHHTLSQLRQLQDMQDVGKVDAAWEPSKNTLIMGLGTQGAEKK
  SAASIACFLAANGADLSIRNKKGQSPLDLCPDPNLCKALAKCHKEKVSGQVGSRSPSMISNDSETLEECMVCSDM
  KRDTLFGPCGHIATCSLCSPRVKKCLICKEQVQSRTKIEECVVCSDKKAAVLFQPCGHMCACENCANLMKKCVQC
  RAVVERRVPFIMCCGGKSSEDATDDISSGNIPVLQKDKDNTNVNADVQKLQQQLQDIKEQTMCPVCLDRLKNMIF
  LCGHGTCQLCGDRMSECPICRKAIERRILLY

• Structural information:
  • Protein Domains: (6..7-)
    (/note="MIB/HERC2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00749-)
    (143..22-)
    (/note="MIB/HERC2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00749"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR042056  IPR010606   IPR037252  IPR040847  IPR001841  IPR013083  IPR000433  
  • Prosite: PS50297 PS50088 PS51416 PS50089 PS01357 PS50135
  • CDD: cd02339
  • PDB: 4TSE 4XI6 4XI7 4XIB
  • PDBsum: 4TSE 4XI6 4XI7 4XIB
  • STRING: ENSP00000261537
• Other Databases: GeneCards:  MIB1  Malacards:  MIB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001841	neural tube formation	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0045807	positive regulation of endocytosis	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Left ventricular noncompaction	KEGG:H01216
Left ventricular noncompaction	KEGG:H01216
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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