Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57534
Gene name Gene Name - the full gene name approved by the HGNC.
MIB E3 ubiquitin protein ligase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MIB1
Synonyms (NCBI Gene) Gene synonyms aliases
DIP-1, DIP1, LVNC7, MIB, ZZANK2, ZZZ6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LVNC7
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200035428 G>T Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs201850378 C>T Likely-pathogenic, uncertain-significance Stop gained, coding sequence variant, genic downstream transcript variant
rs777854951 G>A,T Likely-pathogenic Missense variant, genic upstream transcript variant, stop gained, coding sequence variant
rs778947880 C>G,T Likely-pathogenic Missense variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003176 hsa-miR-210-3p immunoprecipitaion, Microarray, qRT-PCR 19826008
MIRT024481 hsa-miR-215-5p Microarray 19074876
MIRT026726 hsa-miR-192-5p Microarray 19074876
MIRT027205 hsa-miR-103a-3p Sequencing 20371350
MIRT030987 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001756 Process Somitogenesis IEA
GO:0001841 Process Neural tube formation IEA
GO:0001947 Process Heart looping IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608677 21086 ENSG00000101752
Protein
UniProt ID Q86YT6
Protein 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)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocyto
PDB 4TSE , 4XI6 , 4XI7 , 4XIB , 8V0D , 8V0E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06701 MIB_HERC2 15 72 Mib_herc2 Domain
PF00569 ZZ 79 124 Zinc finger, ZZ type Domain
PF06701 MIB_HERC2 154 219 Mib_herc2 Domain
PF18346 SH3_15 246 311 Mind bomb SH3 repeat domain Domain
PF18346 SH3_15 333 397 Mind bomb SH3 repeat domain Domain
PF12796 Ank_2 435 527 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 506 593 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 563 616 Repeat
PF12796 Ank_2 591 663 Ankyrin repeats (3 copies) Repeat
PF13920 zf-C3HC4_3 815 860 Domain
PF13920 zf-C3HC4_3 862 907 Domain
PF13920 zf-C3HC4_3 959 1002 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low level. Expressed at higher level in spinal cord, ovary, whole brain, and all specific brain regions examined. {ECO:0000269|PubMed:10718198}.
Sequence
MSNSRNNRVMVEGVGARVVRGPDWKWGKQDGGEGHVGTVRSFESPEEVVVVWDNGTAANY
RCSGAYDLRILD
SAPTGIKHDGTMCDTCRQQPIIGIRWKCAECTNYDLCTVCYHGDKHHL
RHRF
YRITTPGSERVLLESRRKSKKITARGIFAGARVVRGVDWQWEDQDGGNGRRGKVTE
IQDWSASSPHSAAYVLWDNGAKNLYRVGFEGMSDLKCVQ
DAKGGSFYRDHCPVLGEQNGN
RNPGGLQIGDLVNIDLDLEIVQSLQHGHGGWTDGMFETLTTTGTVCGIDEDHDIVVQYPS
GNRWTFNPAVL
TKANIVRSGDAAQGAEGGTSQFQVGDLVQVCYDLERIKLLQRGHGEWAE
AMLPTLGKVGRVQQIYSDSDLKVEVCGTSWTYNPAAV
SKVASAGSAISNASGERLSQLLK
KLFETQESGDLNEELVKAAANGDVAKVEDLLKRPDVDVNGQCAGHTAMQAASQNGHVDIL
KLLLKQNVDVEAEDKDGDRAVHHAA
FGDEGAVIEVLHRGSADLNARNKRRQTPLHIAVNK
GHLQVVKTLLDFGCHPSLQDSEGDTPLHDAISKKRDDILAVLLEAGADVTITNNNGFNAL
HHAALRGNPSAMRVLL
SKLPRPWIVDEKKDDGYTALHLAALNNHVEVAELLVHQGNANLD
IQN
VNQQTALHLAVERQHTQIVRLLVRAGAKLDIQDKDGDTPLHEALRHHTLSQLRQLQD
MQDVGKVDAAWEPSKNTLIMGLGTQGAEKKSAASIACFLAANGADLSIRNKKGQSPLDLC
PDPNLCKALAKCHKEKVSGQVGSRSPSMISNDSETLEECMVCSDMKRDTLFGPCGHIATC
SLCSPRVKKCLICKEQVQSR
TKIEECVVCSDKKAAVLFQPCGHMCACENCANLMKKCVQC
RAVVERR
VPFIMCCGGKSSEDATDDISSGNIPVLQKDKDNTNVNADVQKLQQQLQDIKEQ
TMCPVCLDRLKNMIFLCGHGTCQLCGDRMSECPICRKAIERR
ILLY
Sequence length 1006
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lipid and atherosclerosis   Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Left ventricular noncompaction Left ventricular noncompaction rs121913654, rs730880850, rs386134243, rs397515482, rs138110910, rs730880336, rs730880856, rs794729390, rs886037900, rs1114167338, rs1555338658 23314057
Cardiomyopathy Left ventricular noncompaction cardiomyopathy rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Seizure Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)
20943912
Ventricular noncompaction LEFT VENTRICULAR NONCOMPACTION 7 rs36211723, rs397515905, rs375882485, rs397515907, rs397515916, rs397515925, rs397515982, rs397515990, rs373746463, rs397516022, rs397516073, rs397516074, rs397514742, rs886041395, rs727504289
View all (10 more)
23314057
Unknown
Disease term Disease name Evidence References Source
Myopathy dilated cardiomyopathy GenCC
Ventricular Noncompaction left ventricular noncompaction 7 GenCC
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 8567994, 9823779
Adenocarcinoma of Lung Associate 24736586, 30013444
Adenoma Associate 22976139, 24222652, 25674262
Adenoma Pleomorphic Stimulate 35637257
Adrenal Gland Neoplasms Associate 12085205
Arrhythmias Cardiac Associate 36008935
Arrhythmogenic Right Ventricular Dysplasia Associate 36008935
Asthma Associate 35417913
Bile Duct Neoplasms Associate 8928197
Branchioma Associate 29410959