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Protein

E3 ubiquitin-protein ligase MIB1

Gene

MIB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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).

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.

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
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

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

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
UniPathwayiUPA00143

Names & Taxonomyi

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
Gene namesi
Name:MIB1
Synonyms:DIP1, KIAA1323, ZZANK2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000101752.11
HGNCiHGNC:21086 MIB1
MIMi608677 gene
neXtProtiNX_Q86YT6

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

Pathology & Biotechi

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
Natural variantiVAR_069620943V → F in LVNC7. 1 PublicationCorresponds to variant dbSNP:rs200035428EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi57534
MalaCardsiMIB1
MIMi615092 phenotype
OpenTargetsiENSG00000101752
Orphaneti54260 Left ventricular noncompaction
PharmGKBiPA134862722

Polymorphism and mutation databases

DMDMi68565512

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000559431 – 1006E3 ubiquitin-protein ligase MIB1Add BLAST1006

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei408PhosphoserineCombined sources1

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

EPDiQ86YT6
MaxQBiQ86YT6
PaxDbiQ86YT6
PeptideAtlasiQ86YT6
PRIDEiQ86YT6
ProteomicsDBi70468

PTM databases

iPTMnetiQ86YT6
PhosphoSitePlusiQ86YT6

Expressioni

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

BgeeiENSG00000101752
CleanExiHS_MIB1
GenevisibleiQ86YT6 HS

Organism-specific databases

HPAiCAB037044
HPA019100

Interactioni

Subunit structurei

Interacts with CEP131 and PCM1.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi121593, 87 interactors
IntActiQ86YT6, 42 interactors
MINTiQ86YT6
STRINGi9606.ENSP00000261537

Structurei

Secondary structure

11006
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi98 – 105Combined sources8
Helixi110 – 113Combined sources4
Beta strandi156 – 159Combined sources4
Turni166 – 169Combined sources4
Beta strandi176 – 182Combined sources7
Beta strandi188 – 193Combined sources6
Beta strandi195 – 197Combined sources3
Beta strandi202 – 208Combined sources7
Helixi209 – 211Combined sources3
Beta strandi215 – 219Combined sources5
Helixi221 – 223Combined sources3
Turni229 – 231Combined sources3
Beta strandi233 – 237Combined sources5
Beta strandi248 – 251Combined sources4
Helixi264 – 266Combined sources3
Beta strandi269 – 276Combined sources8
Beta strandi283 – 286Combined sources4
Turni288 – 293Combined sources6
Beta strandi294 – 297Combined sources4
Beta strandi303 – 306Combined sources4
Beta strandi307 – 312Combined sources6
Beta strandi314 – 324Combined sources11
Beta strandi326 – 330Combined sources5
Beta strandi338 – 341Combined sources4
Helixi345 – 351Combined sources7
Turni352 – 356Combined sources5
Helixi360 – 363Combined sources4
Helixi364 – 367Combined sources4
Beta strandi370 – 375Combined sources6
Turni377 – 379Combined sources3
Beta strandi381 – 384Combined sources4
Beta strandi389 – 392Combined sources4
Helixi394 – 396Combined sources3
Beta strandi397 – 399Combined sources3
Beta strandi402 – 405Combined sources4
Beta strandi406 – 409Combined sources4
Helixi413 – 421Combined sources9
Helixi433 – 438Combined sources6
Beta strandi444 – 450Combined sources7
Beta strandi456 – 458Combined sources3

3D structure databases

ProteinModelPortaliQ86YT6
SMRiQ86YT6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini6 – 74MIB/HERC2 1PROSITE-ProRule annotationAdd BLAST69
Domaini143 – 221MIB/HERC2 2PROSITE-ProRule annotationAdd BLAST79
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
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

eggNOGiKOG0504 Eukaryota
KOG4582 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00920000148972
HOVERGENiHBG068386
InParanoidiQ86YT6
KOiK10645
OMAiKCHKEKS
OrthoDBiEOG091G00Z0
PhylomeDBiQ86YT6
TreeFamiTF324147

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, 3 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

Sequencei

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
Checksum:i5D7D0D91AF98FF18
GO

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
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMIB1_HUMAN
AccessioniPrimary (citable) accession number: Q86YT6
Secondary accession number(s): B0YJ38
, Q2TB37, Q68D01, Q6YI51, Q8NBY0, Q8TCB5, Q8TCL7, Q9P2M3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: June 1, 2003
Last modified: July 18, 2018
This is version 157 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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