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Protein

E3 ubiquitin-protein ligase MIB1

Gene

MIB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation.By similarity1 Publication

Miscellaneous

In epilepsy brain tissue, levels of expression are increased in the cytoplasm and microsomal fractions (endoplasmic reticulum).

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri79 – 126ZZ-typePROSITE-ProRule annotationAdd BLAST48
Zinc fingeri819 – 854RING-type 1PROSITE-ProRule annotationAdd BLAST36
Zinc fingeri866 – 901RING-type 2PROSITE-ProRule annotationAdd BLAST36
Zinc fingeri963 – 996RING-type 3PROSITE-ProRule annotationAdd BLAST34

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ubiquitin-protein transferase activity Source: GO_Central
  • zinc ion binding Source: InterPro

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processNotch signaling pathway, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2691232 Constitutive Signaling by NOTCH1 HD Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q86YT6

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q86YT6

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
E3 ubiquitin-protein ligase MIB1 (EC:2.3.2.27)
Alternative name(s):
DAPK-interacting protein 1
Short name:
DIP-1
Mind bomb homolog 1
RING-type E3 ubiquitin transferase MIB1Curated
Zinc finger ZZ type with ankyrin repeat domain protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MIB1
Synonyms:DIP1, KIAA1323, ZZANK2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000101752.11

Human Gene Nomenclature Database

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HGNCi
HGNC:21086 MIB1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608677 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86YT6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Left ventricular non-compaction 7 (LVNC7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition.
See also OMIM:615092
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069620943V → F in LVNC7. 1 PublicationCorresponds to variant dbSNP:rs200035428EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
57534

MalaCards human disease database

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MalaCardsi
MIB1
MIMi615092 phenotype

Open Targets

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OpenTargetsi
ENSG00000101752

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
54260 Left ventricular noncompaction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134862722

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68565512

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000559431 – 1006E3 ubiquitin-protein ligase MIB1Add BLAST1006

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei408PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated; possibly via autoubiquitination (By similarity). Ubiquitinated; this modification is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock.By similarity2 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q86YT6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q86YT6

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q86YT6

PeptideAtlas

More...
PeptideAtlasi
Q86YT6

PRoteomics IDEntifications database

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PRIDEi
Q86YT6

ProteomicsDB human proteome resource

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ProteomicsDBi
70468

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q86YT6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q86YT6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed at low level. Expressed at higher level in spinal cord, ovary, whole brain, and all specific brain regions examined.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000101752 Expressed in 213 organ(s), highest expression level in kidney

CleanEx database of gene expression profiles

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CleanExi
HS_MIB1

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q86YT6 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB037044
HPA019100

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CEP131 and PCM1.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121593, 88 interactors

Protein interaction database and analysis system

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IntActi
Q86YT6, 43 interactors

Molecular INTeraction database

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MINTi
Q86YT6

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261537

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11006
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q86YT6

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q86YT6

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini6 – 74MIB/HERC2 1PROSITE-ProRule annotationAdd BLAST69
Domaini143 – 221MIB/HERC2 2PROSITE-ProRule annotationAdd BLAST79
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati430 – 460ANK 1Add BLAST31
Repeati463 – 492ANK 2Add BLAST30
Repeati496 – 525ANK 3Add BLAST30
Repeati529 – 558ANK 4Add BLAST30
Repeati562 – 591ANK 5Add BLAST30
Repeati595 – 627ANK 6Add BLAST33
Repeati631 – 661ANK 7Add BLAST31
Repeati665 – 694ANK 8Add BLAST30
Repeati698 – 729ANK 9Add BLAST32

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili935 – 962Sequence analysisAdd BLAST28

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri79 – 126ZZ-typePROSITE-ProRule annotationAdd BLAST48
Zinc fingeri819 – 854RING-type 1PROSITE-ProRule annotationAdd BLAST36
Zinc fingeri866 – 901RING-type 2PROSITE-ProRule annotationAdd BLAST36
Zinc fingeri963 – 996RING-type 3PROSITE-ProRule annotationAdd BLAST34

Keywords - Domaini

ANK repeat, Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0504 Eukaryota
KOG4582 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156781

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG068386

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86YT6

KEGG Orthology (KO)

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KOi
K10645

Identification of Orthologs from Complete Genome Data

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OMAi
CCGGIGR

Database of Orthologous Groups

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OrthoDBi
EOG091G00Z0

Database for complete collections of gene phylogenies

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PhylomeDBi
Q86YT6

TreeFam database of animal gene trees

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TreeFami
TF324147

Family and domain databases

Conserved Domains Database

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CDDi
cd00204 ANK, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 1 hit
2.30.30.920, 2 hits
3.30.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR010606 Mib_Herc2
IPR037252 Mib_Herc2_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR000433 Znf_ZZ

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 2 hits
PF06701 MIB_HERC2, 2 hits
PF00569 ZZ, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00248 ANK, 9 hits
SM00184 RING, 3 hits
SM00291 ZnF_ZZ, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF159034 SSF159034, 2 hits
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 6 hits
PS51416 MIB_HERC2, 2 hits
PS50089 ZF_RING_2, 3 hits
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q86YT6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSNSRNNRVM VEGVGARVVR GPDWKWGKQD GGEGHVGTVR SFESPEEVVV
60 70 80 90 100
VWDNGTAANY RCSGAYDLRI LDSAPTGIKH DGTMCDTCRQ QPIIGIRWKC
110 120 130 140 150
AECTNYDLCT VCYHGDKHHL RHRFYRITTP GSERVLLESR RKSKKITARG
160 170 180 190 200
IFAGARVVRG VDWQWEDQDG GNGRRGKVTE IQDWSASSPH SAAYVLWDNG
210 220 230 240 250
AKNLYRVGFE GMSDLKCVQD AKGGSFYRDH CPVLGEQNGN RNPGGLQIGD
260 270 280 290 300
LVNIDLDLEI VQSLQHGHGG WTDGMFETLT TTGTVCGIDE DHDIVVQYPS
310 320 330 340 350
GNRWTFNPAV LTKANIVRSG DAAQGAEGGT SQFQVGDLVQ VCYDLERIKL
360 370 380 390 400
LQRGHGEWAE AMLPTLGKVG RVQQIYSDSD LKVEVCGTSW TYNPAAVSKV
410 420 430 440 450
ASAGSAISNA SGERLSQLLK KLFETQESGD LNEELVKAAA NGDVAKVEDL
460 470 480 490 500
LKRPDVDVNG QCAGHTAMQA ASQNGHVDIL KLLLKQNVDV EAEDKDGDRA
510 520 530 540 550
VHHAAFGDEG AVIEVLHRGS ADLNARNKRR QTPLHIAVNK GHLQVVKTLL
560 570 580 590 600
DFGCHPSLQD SEGDTPLHDA ISKKRDDILA VLLEAGADVT ITNNNGFNAL
610 620 630 640 650
HHAALRGNPS AMRVLLSKLP RPWIVDEKKD DGYTALHLAA LNNHVEVAEL
660 670 680 690 700
LVHQGNANLD IQNVNQQTAL HLAVERQHTQ IVRLLVRAGA KLDIQDKDGD
710 720 730 740 750
TPLHEALRHH TLSQLRQLQD MQDVGKVDAA WEPSKNTLIM GLGTQGAEKK
760 770 780 790 800
SAASIACFLA ANGADLSIRN KKGQSPLDLC PDPNLCKALA KCHKEKVSGQ
810 820 830 840 850
VGSRSPSMIS NDSETLEECM VCSDMKRDTL FGPCGHIATC SLCSPRVKKC
860 870 880 890 900
LICKEQVQSR TKIEECVVCS DKKAAVLFQP CGHMCACENC ANLMKKCVQC
910 920 930 940 950
RAVVERRVPF IMCCGGKSSE DATDDISSGN IPVLQKDKDN TNVNADVQKL
960 970 980 990 1000
QQQLQDIKEQ TMCPVCLDRL KNMIFLCGHG TCQLCGDRMS ECPICRKAIE

RRILLY
Length:1,006
Mass (Da):110,136
Last modified:June 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5D7D0D91AF98FF18
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH22403 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAN18023 differs from that shown. Reason: Frameshift at position 3.Curated
The sequence BAC11439 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti327E → K in AAN18023 (Ref. 2) Curated1
Sequence conflicti398S → F in AAN18023 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069385174R → H Found in a patient with severe mental retardation, psychomotor delay, no speech, sleep disturbances, feeding problems, abnormal breething, deep-set eyes and short philtrum. 1 PublicationCorresponds to variant dbSNP:rs755375969Ensembl.1
Natural variantiVAR_069620943V → F in LVNC7. 1 PublicationCorresponds to variant dbSNP:rs200035428EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY149908 mRNA Translation: AAN75493.1
AY147849 mRNA Translation: AAN18023.1 Frameshift.
EF444995 Genomic DNA Translation: ACA06016.1
BC022403 mRNA Translation: AAH22403.1 Different initiation.
BC110581 mRNA Translation: AAI10582.1
BC110582 mRNA Translation: AAI10583.1
CR749635 mRNA Translation: CAH18429.1
AL713705 mRNA Translation: CAD28502.1
AB037744 mRNA Translation: BAA92561.1
AK075157 mRNA Translation: BAC11439.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS11871.1

NCBI Reference Sequences

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RefSeqi
NP_065825.1, NM_020774.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.140903

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261537; ENSP00000261537; ENSG00000101752

Database of genes from NCBI RefSeq genomes

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GeneIDi
57534

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57534

UCSC genome browser

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UCSCi
uc002ktq.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY149908 mRNA Translation: AAN75493.1
AY147849 mRNA Translation: AAN18023.1 Frameshift.
EF444995 Genomic DNA Translation: ACA06016.1
BC022403 mRNA Translation: AAH22403.1 Different initiation.
BC110581 mRNA Translation: AAI10582.1
BC110582 mRNA Translation: AAI10583.1
CR749635 mRNA Translation: CAH18429.1
AL713705 mRNA Translation: CAD28502.1
AB037744 mRNA Translation: BAA92561.1
AK075157 mRNA Translation: BAC11439.1 Different initiation.
CCDSiCCDS11871.1
RefSeqiNP_065825.1, NM_020774.3
UniGeneiHs.140903

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4TSEX-ray2.06A/B239-409[»]
4XI6X-ray2.04A8-402[»]
4XI7X-ray2.05A8-402[»]
4XIBX-ray2.15A8-402[»]
ProteinModelPortaliQ86YT6
SMRiQ86YT6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121593, 88 interactors
IntActiQ86YT6, 43 interactors
MINTiQ86YT6
STRINGi9606.ENSP00000261537

PTM databases

iPTMnetiQ86YT6
PhosphoSitePlusiQ86YT6

Polymorphism and mutation databases

DMDMi68565512

Proteomic databases

EPDiQ86YT6
MaxQBiQ86YT6
PaxDbiQ86YT6
PeptideAtlasiQ86YT6
PRIDEiQ86YT6
ProteomicsDBi70468

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261537; ENSP00000261537; ENSG00000101752
GeneIDi57534
KEGGihsa:57534
UCSCiuc002ktq.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57534
DisGeNETi57534
EuPathDBiHostDB:ENSG00000101752.11

GeneCards: human genes, protein and diseases

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GeneCardsi
MIB1
HGNCiHGNC:21086 MIB1
HPAiCAB037044
HPA019100
MalaCardsiMIB1
MIMi608677 gene
615092 phenotype
neXtProtiNX_Q86YT6
OpenTargetsiENSG00000101752
Orphaneti54260 Left ventricular noncompaction
PharmGKBiPA134862722

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4582 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000156781
HOVERGENiHBG068386
InParanoidiQ86YT6
KOiK10645
OMAiCCGGIGR
OrthoDBiEOG091G00Z0
PhylomeDBiQ86YT6
TreeFamiTF324147

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2691232 Constitutive Signaling by NOTCH1 HD Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
SignaLinkiQ86YT6
SIGNORiQ86YT6

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MIB1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MIB1_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57534

Protein Ontology

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PROi
PR:Q86YT6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101752 Expressed in 213 organ(s), highest expression level in kidney
CleanExiHS_MIB1
GenevisibleiQ86YT6 HS

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 1 hit
2.30.30.920, 2 hits
3.30.40.10, 3 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR010606 Mib_Herc2
IPR037252 Mib_Herc2_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR000433 Znf_ZZ
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF06701 MIB_HERC2, 2 hits
PF00569 ZZ, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 9 hits
SM00184 RING, 3 hits
SM00291 ZnF_ZZ, 1 hit
SUPFAMiSSF159034 SSF159034, 2 hits
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 6 hits
PS51416 MIB_HERC2, 2 hits
PS50089 ZF_RING_2, 3 hits
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMIB1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86YT6
Secondary accession number(s): B0YJ38
, Q2TB37, Q68D01, Q6YI51, Q8NBY0, Q8TCB5, Q8TCL7, Q9P2M3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: June 1, 2003
Last modified: December 5, 2018
This is version 160 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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