MIB1 (MIB E3 ubiquitin protein ligase 1)

2008-05-01 Affiliation

Identity

HGNC

MIB1

LOCATION

18q11.2

LOCUSID

57534

ALIAS

DIP-1,DIP1,LVNC7,MIB,ZZANK2,ZZZ6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57534
MIM: 608677
HGNC: 21086
Ensembl: ENSG00000101752

Variants:

dbSNP: 57534
ClinVar: 57534
TCGA: ENSG00000101752
COSMIC: MIB1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000101752	ENST00000261537	Q86YT6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signaling by NOTCH1 in Cancer	REACTOME	R-HSA-2644603
Signaling by NOTCH1 HD Domain Mutants in Cancer	REACTOME	R-HSA-2691230
Constitutive Signaling by NOTCH1 HD Domain Mutants	REACTOME	R-HSA-2691232
Signaling by NOTCH1 PEST Domain Mutants in Cancer	REACTOME	R-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain Mutants	REACTOME	R-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	REACTOME	R-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	REACTOME	R-HSA-2894862
Signal Transduction	REACTOME	R-HSA-162582
Signaling by NOTCH	REACTOME	R-HSA-157118
Signaling by NOTCH1	REACTOME	R-HSA-1980143
Activated NOTCH1 Transmits Signal to the Nucleus	REACTOME	R-HSA-2122948
Signaling by NOTCH2	REACTOME	R-HSA-1980145
NOTCH2 Activation and Transmission of Signal to the Nucleus	REACTOME	R-HSA-2979096

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23314057	2013	Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.	82
21875946	2011	Mindbomb 1, an E3 ubiquitin ligase, forms a complex with RYK to activate Wnt/β-catenin signaling.	46
27146717	2016	Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis.	29
23615451	2013	The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.	24
26825552	2016	MicroRNA-10a/10b represses a novel target gene mib1 to regulate angiogenesis.	20
25795303	2015	The E3 ubiquitin ligase Mib1 regulates Plk4 and centriole biogenesis.	18
17324930	2007	Regulation of death-associated protein kinase. Stabilization by HSP90 heterocomplexes.	17
17003037	2006	Neuralized-2 regulates a Notch ligand in cooperation with Mind bomb-1.	16
25747658	2015	A tail of two sites: a bipartite mechanism for recognition of notch ligands by mind bomb E3 ligases.	9
19710364	2009	Mind bomb 1 regulation of cFLIP interactions.	8

Citation

Dessen P

MIB1 (MIB E3 ubiquitin protein ligase 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50133/mib1