Gene Gene information from NCBI Gene database.
Entrez ID 57534
Gene name MIB E3 ubiquitin protein ligase 1
Gene symbol MIB1
Synonyms (NCBI Gene)
DIP-1DIP1LVNC7MIBZZANK2ZZZ6
Chromosome 18
Chromosome location 18q11.2
Summary 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.
4
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.
887
miRTarBase ID miRNA Experiments Reference
MIRT003176 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608677 21086 ENSG00000101752
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Left ventricular noncompaction 7 Likely pathogenic rs1430105900, rs757527279, rs2510764215, rs2510690670, rs1195745791 RCV001329171
RCV001809234
RCV003887828
RCV003990069
RCV003993522
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIB1-related disorder Likely pathogenic rs748226232 RCV004754869
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 30240870
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 25238988
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 18360114
★☆☆☆☆
Found in Text Mining only
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 30074466
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11306742, 11781519, 15569371, 15809747, 23594232, 25454198, 29956011, 31319967, 9583887, 9811352
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30013444
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 9583887
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 12885834
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11416238, 11761722, 12111504, 17381350, 21753697, 25979255, 27490759, 27734275, 9532003, 9918211
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 10414492, 22395475, 27490759
★☆☆☆☆
Found in Text Mining only