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UniProtKB - Q96AX9 (MIB2_HUMAN)

Entry version 175 (22 Apr 2020)
Sequence version 3 (14 Oct 2008)
Previous versions | rss
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Protein

E3 ubiquitin-protein ligase MIB2

Gene

MIB2

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.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">'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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 fingeri143 – 190ZZ-typePROSITE-ProRule annotationAdd BLAST48
Zinc fingeri890 – 925RING-type 1PROSITE-ProRule annotationAdd BLAST36
Zinc fingeri969 – 1002RING-type 2PROSITE-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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionActin-binding, Transferase
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
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

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

More...SignaLinki		Q96AX9

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96AX9

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%5Fand%5Ftaxonomy%5Fsection">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 MIB2 (EC:2.3.2.27)
Alternative name(s):
Mind bomb homolog 2
Novel zinc finger protein
Short name:
Novelzin
Putative NF-kappa-B-activating protein 002N
RING-type E3 ubiquitin transferase MIB2Curated
Skeletrophin
Zinc finger ZZ type with ankyrin repeat domain protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MIB2
Synonyms:SKD, ZZANK1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30577 MIB2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611141 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96AX9

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		142678

MalaCards human disease database

More...MalaCardsi		MIB2

Open Targets

More...OpenTargetsi		ENSG00000197530

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

More...Orphaneti		54260 Left ventricular noncompaction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134924284

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96AX9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MIB2

Domain mapping of disease mutations (DMDM)

More...DMDMi		209572707

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000559471 – 1013E3 ubiquitin-protein ligase MIB2Add BLAST1013

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 residuei309PhosphoserineCombined sources1
Isoform 8 (identifier: Q96AX9-8)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 10 (identifier: Q96AX9-10)
Modified residuei1N-acetylmethionineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96AX9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96AX9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96AX9

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

More...PaxDbi		Q96AX9

PeptideAtlas

More...PeptideAtlasi		Q96AX9

PRoteomics IDEntifications database

More...PRIDEi		Q96AX9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20393
20580
30446
3825
76009 [Q96AX9-1]
76010 [Q96AX9-2]
76011 [Q96AX9-3]
76012 [Q96AX9-4]
76013 [Q96AX9-5]
76014 [Q96AX9-6]
76015 [Q96AX9-7]
76016 [Q96AX9-8]
76017 [Q96AX9-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96AX9

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

More...PhosphoSitePlusi		Q96AX9

<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

Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated in many primary skin melanomas. Treatment with a demethylating agent, 5'-aza-2-deoxycytidine, restores expression, suggesting that down-regulation is the result of methylation of the gene.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197530 Expressed in pituitary gland and 165 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96AX9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96AX9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000197530 Tissue enriched (skeletal)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with actin monomer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		126769, 31 interactors

Protein interaction database and analysis system

More...IntActi		Q96AX9, 17 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000426103

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96AX9 protein

<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

3D structure databases

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

More...SMRi		Q96AX9

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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>Domaini59 – 138MIB/HERC2 1PROSITE-ProRule annotationAdd BLAST80
Domaini207 – 285MIB/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>Repeati522 – 551ANK 1Add BLAST30
Repeati555 – 584ANK 2Add BLAST30
Repeati588 – 617ANK 3Add BLAST30
Repeati621 – 653ANK 4Add BLAST33
Repeati657 – 686ANK 5Add BLAST30
Repeati691 – 721ANK 6Add BLAST31
Repeati725 – 754ANK 7Add BLAST30
Repeati758 – 786ANK 8Add BLAST29
Repeati827 – 856ANK 9Add BLAST30

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri143 – 190ZZ-typePROSITE-ProRule annotationAdd BLAST48
Zinc fingeri890 – 925RING-type 1PROSITE-ProRule annotationAdd BLAST36
Zinc fingeri969 – 1002RING-type 2PROSITE-ProRule annotationAdd BLAST34

Keywords - Domaini

ANK repeat, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0504 Eukaryota
KOG4582 Eukaryota
ENOG410XP18 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158097

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96AX9

KEGG Orthology (KO)

More...KOi		K10645

Identification of Orthologs from Complete Genome Data

More...OMAi		HDAIGKD

Database of Orthologous Groups

More...OrthoDBi		220300at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96AX9

TreeFam database of animal gene trees

More...TreeFami		TF324147

Family and domain databases

Conserved Domains Database

More...CDDi		cd02339 ZZ_Mind_bomb, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.20, 1 hit
2.30.30.920, 2 hits
3.30.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR042056 MIB1/2_ZZ
IPR010606 Mib_Herc2
IPR037252 Mib_Herc2_sf
IPR040847 SH3_15
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
PF13606 Ank_3, 1 hit
PF06701 MIB_HERC2, 2 hits
PF18346 SH3_15, 2 hits
PF00569 ZZ, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00248 ANK, 9 hits
SM00184 RING, 2 hits
SM00291 ZnF_ZZ, 1 hit

Superfamily database of structural and functional annotation

More...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, 5 hits
PS51416 MIB_HERC2, 2 hits
PS50089 ZF_RING_2, 2 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (14+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 14 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 14 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96AX9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGWKPSEARG QSQSFQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH 
        60         70         80         90        100
RSRAAPPNMD PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH 
       110        120        130        140        150
GSPSTPDRTV VVQWDQGTRT NYRAGYQGAH DLLLYDNAQI GVRHPNIICD 
       160        170        180        190        200
CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN KHELAHAFDR YETAHSRPVT 
       210        220        230        240        250
LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG RVVDIRGWDV 
       260        270        280        290        300
ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK 
       310        320        330        340        350
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEFIGQ 
       360        370        380        390        400
TGTVHRITDR GDVRVQFNHE TRWTFHPGAL TKHHSFWVGD VVRVIGDLDT 
       410        420        430        440        450
VKRLQAGHGE WTDDMAPALG RVGKVVKVFG DGNLRVAVAG QRWTFSPSCL 
       460        470        480        490        500
VAYRPEEDAN LDVAERAREN KSSLSVALDK LRAQKSDPEH PGRLVVEVAL 
       510        520        530        540        550
GNAARALDLL RRRPEQVDTK NQGRTALQVA AYLGQVELIR LLLQARAGVD 
       560        570        580        590        600
LPDDEGNTAL HYAALGNQPE ATRVLLSAGC RADAINSTQS TALHVAVQRG 
       610        620        630        640        650
FLEVVRALCE RGCDVNLPDA HSDTPLHSAI SAGTGASGIV EVLTEVPNID 
       660        670        680        690        700
VTATNSQGFT LLHHASLKGH ALAVRKILAR ARQLVDAKKE DGFTALHLAA 
       710        720        730        740        750
LNNHREVAQI LIREGRCDVN VRNRKLQSPL HLAVQQAHVG LVPLLVDAGC 
       760        770        780        790        800
SVNAEDEEGD TALHVALQRH QLLPLVADGA GGDPGPLQLL SRLQASGLPG 
       810        820        830        840        850
SAELTVGAAV ACFLALEGAD VSYTNHRGRS PLDLAAEGRV LKALQGCAQR 
       860        870        880        890        900
FRERQAGGGA APGPRQTLGT PNTVTNLHVG AAPGPEAAEC LVCSELALLV 
       910        920        930        940        950
LFSPCQHRTV CEECARRMKK CIRCQVVVSK KLRPDGSEVA SAAPAPGPPR 
       960        970        980        990       1000
QLVEELQSRY RQMEERITCP ICIDSHIRLV FQCGHGACAP CGSALSACPI 
      1010 
CRQPIRDRIQ IFV
Length:1,013
Mass (Da):109,939
Last modified:October 14, 2008 - v3
<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:i737BA12300091C70
GO
Isoform 2 (identifier: Q96AX9-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     37-50: Missing.

Show »
Length:999
Mass (Da):108,404
Checksum:i37BC32E3C342FC75
GO
Isoform 3 (identifier: Q96AX9-3) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     347-350: Missing.

Show »
Length:1,009
Mass (Da):109,493
Checksum:i6A16B37089CF3538
GO
Isoform 4 (identifier: Q96AX9-4) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     234-298: Missing.

Show »
Length:948
Mass (Da):102,967
Checksum:iDDC32F6A7743A6E3
GO
Isoform 5 (identifier: Q96AX9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     383-417: Missing.

Show »
Length:978
Mass (Da):106,011
Checksum:i211C2E732319290D
GO
Isoform 10 (identifier: Q96AX9-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.
     234-298: Missing.
     853-1013: ERQAGGGAAP...PIRDRIQIFV → VRAQDEEVHQVPGGRQQETAPRRL

Show »
Length:753
Mass (Da):82,129
Checksum:i9447C993AF8726DC
GO
Isoform 7 (identifier: Q96AX9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-159: Missing.

Show »
Length:854
Mass (Da):92,680
Checksum:iC8390208E6E8CFDF
GO
Isoform 8 (identifier: Q96AX9-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.
     858-860: GGA → RGR
     861-1013: Missing.

Show »
Length:802
Mass (Da):87,273
Checksum:i9142D07056C27DBE
GO
Isoform 9 (identifier: Q96AX9-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     673-1013: Missing.

Show »
Length:672
Mass (Da):73,542
Checksum:i1257E008401D9FF9
GO
Isoform 6 (identifier: Q96AX9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     347-382: Missing.

Show »
Length:977
Mass (Da):105,777
Checksum:i80A370887F8655CE
GO
Isoform 11 (identifier: Q96AX9-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAGALRRGRALGSRPSGPTVSSRRSPQCPVAQEGLGARSRPRVAPRSLARCGPSSRLM
     42-55: Missing.

Show »
Length:1,056
Mass (Da):114,326
Checksum:iCF351D9EC0CF7592
GO
Isoform 12 (identifier: Q96AX9-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAGALRRGRALGSRPSGPTVSSRRSPQCPVAQEGLGARSRPRVAPRSLARCGPSSRLM
     234-298: Missing.

Show »
Length:1,005
Mass (Da):108,889
Checksum:i1DFA3D2E0A3ADDAE
GO
Isoform 13 (identifier: Q96AX9-13) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAGALRRGRALGSRPSGPTVSSRRSPQCPVAQEGLGARSRPRVAPRSLARCGPSSRLM
     347-350: Missing.

Show »
Length:1,066
Mass (Da):115,415
Checksum:i5A269C248614C73A
GO
Isoform 14 (identifier: Q96AX9-14) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAGALRRGRALGSRPSGPTVSSRRSPQCPVAQEGLGARSRPRVAPRSLARCGPSSRLM

Show »
Length:1,070
Mass (Da):115,861
Checksum:i7A4B6B4050393324
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAZ0D6RAZ0_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
816Annotation score:

Annotation score:1 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>
E9PD12E9PD12_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
969Annotation score:

Annotation score:1 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>
H0YAM8H0YAM8_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
829Annotation score:

Annotation score:1 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>
F2Z2L2F2Z2L2_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
919Annotation score:

Annotation score:1 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>
D6RED3D6RED3_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
395Annotation score:

Annotation score:1 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>
J3QR95J3QR95_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
332Annotation score:

Annotation score:1 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>
D6RHY5D6RHY5_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
128Annotation score:

Annotation score:1 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>
D6RE96D6RE96_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
175Annotation score:

Annotation score:1 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>
D6RFJ2D6RFJ2_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
148Annotation score:

Annotation score:1 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>
D6RDI1D6RDI1_HUMAN
E3 ubiquitin-protein ligase MIB2
MIB2
114Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

<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 AAH16490 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB82979 differs from that shown. Reason: Frameshift.Curated
The sequence BAC03707 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC04646 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC04752 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC04952 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 conflicti80K → N in AAH16490 (PubMed:15489334).Curated1
Sequence conflicti176 – 177CY → SN in BAB82979 (Ref. 2) Curated2
Sequence conflicti221V → A in BAB82979 (Ref. 2) Curated1
Sequence conflicti226D → F in BAC77353 (PubMed:12761501).Curated1
Sequence conflicti235G → R in BAG63969 (PubMed:14702039).Curated1
Sequence conflicti273H → Y in AAH37542 (PubMed:15489334).Curated1
Sequence conflicti375F → L in BAC04646 (PubMed:14702039).Curated1
Sequence conflicti508D → G in AAH37542 (PubMed:15489334).Curated1
Sequence conflicti637S → G in AAH37542 (PubMed:15489334).Curated1
Sequence conflicti689K → E in BAC04752 (PubMed:14702039).Curated1
Sequence conflicti692G → D in BAG53705 (PubMed:14702039).Curated1
Sequence conflicti937S → F in BAC04646 (PubMed:14702039).Curated1
Sequence conflicti975S → R in BAC77353 (PubMed:12761501).Curated1

Natural variant

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_04666815F → L2 PublicationsCorresponds to variant dbSNP:rs7418389Ensembl.1
Natural variantiVAR_04666945M → T3 PublicationsCorresponds to variant dbSNP:rs12755088Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0355081 – 159Missing in isoform 7. 1 PublicationAdd BLAST159
Alternative sequenceiVSP_0355091 – 58Missing in isoform 8 and isoform 10. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_0464051M → MAGALRRGRALGSRPSGPTV SSRRSPQCPVAQEGLGARSR PRVAPRSLARCGPSSRLM in isoform 11, isoform 12, isoform 13 and isoform 14. 1 Publication1
Alternative sequenceiVSP_01439237 – 50Missing in isoform 2. 3 PublicationsAdd BLAST14
Alternative sequenceiVSP_04640642 – 55Missing in isoform 11. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_014393234 – 298Missing in isoform 4, isoform 10 and isoform 12. 2 PublicationsAdd BLAST65
Alternative sequenceiVSP_014394347 – 382Missing in isoform 6. CuratedAdd BLAST36
Alternative sequenceiVSP_014395347 – 350Missing in isoform 3 and isoform 13. 1 Publication4
Alternative sequenceiVSP_014396383 – 417Missing in isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_035510673 – 1013Missing in isoform 9. 1 PublicationAdd BLAST341
Alternative sequenceiVSP_045186853 – 1013ERQAG…IQIFV → VRAQDEEVHQVPGGRQQETA PRRL in isoform 10. 1 PublicationAdd BLAST161
Alternative sequenceiVSP_035511858 – 860GGA → RGR in isoform 8. 1 Publication3
Alternative sequenceiVSP_035512861 – 1013Missing in isoform 8. 1 PublicationAdd BLAST153

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB074480 mRNA Translation: BAB92950.1
AB064367 mRNA Translation: BAB82979.1 Frameshift.
AB076691 mRNA Translation: BAC00992.1
AB076692 mRNA Translation: BAC00993.1
AB076693 mRNA Translation: BAC00994.1
AB097000 mRNA Translation: BAC77353.1
AK091610 mRNA Translation: BAC03707.1 Different initiation.
AK095914 mRNA Translation: BAC04646.1 Different initiation.
AK096295 mRNA Translation: BAC04752.1 Different initiation.
AK097106 mRNA Translation: BAC04952.1 Different initiation.
AK098785 mRNA Translation: BAC05413.1
AK122751 mRNA Translation: BAG53705.1
AK122863 mRNA Translation: BAG53766.1
AK128167 mRNA Translation: BAG54643.1
AK302757 mRNA Translation: BAG63969.1
AL691432 Genomic DNA No translation available.
BC016490 mRNA Translation: AAH16490.1 Different initiation.
BC037542 mRNA Translation: AAH37542.1
AL834527 mRNA Translation: CAD39183.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41224.2 [Q96AX9-1]
CCDS53261.1 [Q96AX9-3]
CCDS53262.1 [Q96AX9-12]
CCDS53263.1 [Q96AX9-2]
CCDS53264.1 [Q96AX9-10]

NCBI Reference Sequences

More...RefSeqi		NP_001164157.1, NM_001170686.1 [Q96AX9-3]
NP_001164158.1, NM_001170687.1 [Q96AX9-2]
NP_001164159.1, NM_001170688.1 [Q96AX9-12]
NP_001164160.1, NM_001170689.1 [Q96AX9-10]
NP_543151.2, NM_080875.2 [Q96AX9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000355826; ENSP00000348081; ENSG00000197530 [Q96AX9-11]
ENST00000378712; ENSP00000367984; ENSG00000197530 [Q96AX9-10]
ENST00000505820; ENSP00000426103; ENSG00000197530 [Q96AX9-14]
ENST00000518681; ENSP00000428264; ENSG00000197530 [Q96AX9-12]
ENST00000520777; ENSP00000428660; ENSG00000197530 [Q96AX9-13]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		142678

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:142678

UCSC genome browser

More...UCSCi		uc001agg.4 human [Q96AX9-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB074480 mRNA Translation: BAB92950.1
AB064367 mRNA Translation: BAB82979.1 Frameshift.
AB076691 mRNA Translation: BAC00992.1
AB076692 mRNA Translation: BAC00993.1
AB076693 mRNA Translation: BAC00994.1
AB097000 mRNA Translation: BAC77353.1
AK091610 mRNA Translation: BAC03707.1 Different initiation.
AK095914 mRNA Translation: BAC04646.1 Different initiation.
AK096295 mRNA Translation: BAC04752.1 Different initiation.
AK097106 mRNA Translation: BAC04952.1 Different initiation.
AK098785 mRNA Translation: BAC05413.1
AK122751 mRNA Translation: BAG53705.1
AK122863 mRNA Translation: BAG53766.1
AK128167 mRNA Translation: BAG54643.1
AK302757 mRNA Translation: BAG63969.1
AL691432 Genomic DNA No translation available.
BC016490 mRNA Translation: AAH16490.1 Different initiation.
BC037542 mRNA Translation: AAH37542.1
AL834527 mRNA Translation: CAD39183.1
CCDSiCCDS41224.2 [Q96AX9-1]
CCDS53261.1 [Q96AX9-3]
CCDS53262.1 [Q96AX9-12]
CCDS53263.1 [Q96AX9-2]
CCDS53264.1 [Q96AX9-10]
RefSeqiNP_001164157.1, NM_001170686.1 [Q96AX9-3]
NP_001164158.1, NM_001170687.1 [Q96AX9-2]
NP_001164159.1, NM_001170688.1 [Q96AX9-12]
NP_001164160.1, NM_001170689.1 [Q96AX9-10]
NP_543151.2, NM_080875.2 [Q96AX9-1]

3D structure databases

SMRiQ96AX9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi126769, 31 interactors
IntActiQ96AX9, 17 interactors
STRINGi9606.ENSP00000426103

PTM databases

iPTMnetiQ96AX9
PhosphoSitePlusiQ96AX9

Polymorphism and mutation databases

BioMutaiMIB2
DMDMi209572707

Proteomic databases

jPOSTiQ96AX9
MassIVEiQ96AX9
MaxQBiQ96AX9
PaxDbiQ96AX9
PeptideAtlasiQ96AX9
PRIDEiQ96AX9
ProteomicsDBi20393
20580
30446
3825
76009 [Q96AX9-1]
76010 [Q96AX9-2]
76011 [Q96AX9-3]
76012 [Q96AX9-4]
76013 [Q96AX9-5]
76014 [Q96AX9-6]
76015 [Q96AX9-7]
76016 [Q96AX9-8]
76017 [Q96AX9-9]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26451 95 antibodies

The DNASU plasmid repository

More...DNASUi		142678

Genome annotation databases

EnsembliENST00000355826; ENSP00000348081; ENSG00000197530 [Q96AX9-11]
ENST00000378712; ENSP00000367984; ENSG00000197530 [Q96AX9-10]
ENST00000505820; ENSP00000426103; ENSG00000197530 [Q96AX9-14]
ENST00000518681; ENSP00000428264; ENSG00000197530 [Q96AX9-12]
ENST00000520777; ENSP00000428660; ENSG00000197530 [Q96AX9-13]
GeneIDi142678
KEGGihsa:142678
UCSCiuc001agg.4 human [Q96AX9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		142678
DisGeNETi142678

GeneCards: human genes, protein and diseases

More...GeneCardsi		MIB2
HGNCiHGNC:30577 MIB2
HPAiENSG00000197530 Tissue enriched (skeletal)
MalaCardsiMIB2
MIMi611141 gene
neXtProtiNX_Q96AX9
OpenTargetsiENSG00000197530
Orphaneti54260 Left ventricular noncompaction
PharmGKBiPA134924284

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4582 Eukaryota
ENOG410XP18 LUCA
GeneTreeiENSGT00940000158097
InParanoidiQ96AX9
KOiK10645
OMAiHDAIGKD
OrthoDBi220300at2759
PhylomeDBiQ96AX9
TreeFamiTF324147

Enzyme and pathway databases

UniPathwayiUPA00143
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
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ96AX9
SIGNORiQ96AX9

Miscellaneous databases

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

More...ChiTaRSi		MIB2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MIB2_(gene)

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

More...GenomeRNAii		142678
PharosiQ96AX9 Tbio

Protein Ontology

More...PROi		PR:Q96AX9
RNActiQ96AX9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197530 Expressed in pituitary gland and 165 other tissues
ExpressionAtlasiQ96AX9 baseline and differential
GenevisibleiQ96AX9 HS

Family and domain databases

CDDicd02339 ZZ_Mind_bomb, 1 hit
Gene3Di1.25.40.20, 1 hit
2.30.30.920, 2 hits
3.30.40.10, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR042056 MIB1/2_ZZ
IPR010606 Mib_Herc2
IPR037252 Mib_Herc2_sf
IPR040847 SH3_15
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR000433 Znf_ZZ
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF13606 Ank_3, 1 hit
PF06701 MIB_HERC2, 2 hits
PF18346 SH3_15, 2 hits
PF00569 ZZ, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 9 hits
SM00184 RING, 2 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, 5 hits
PS51416 MIB_HERC2, 2 hits
PS50089 ZF_RING_2, 2 hits
PS01357 ZF_ZZ_1, 1 hit
PS50135 ZF_ZZ_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiMIB2_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: Q96AX9
Secondary accession number(s): A2AGM5
, A2AGM6, B3KV93, B3KVF4, B3KXY1, B4DZ57, E9PGU1, E9PHQ1, F8WA73, J3KNZ7, Q7Z437, Q8IY62, Q8N786, Q8N897, Q8N8R2, Q8N911, Q8NB36, Q8NCY1, Q8NG59, Q8NG60, Q8NG61, Q8NI59, Q8WYN1
<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%5Fand%5Fisoforms">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: October 14, 2008
Last modified: April 22, 2020
This is version 175 of the entry and version 3 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.

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Keywords - Technical termi

Reference proteome

Documents

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