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Q86YT6

- MIB1_HUMAN

UniProt

Q86YT6 - MIB1_HUMAN

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Protein
E3 ubiquitin-protein ligase MIB1
Gene
MIB1, DIP1, KIAA1323, ZZANK2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.1 Publication

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri79 – 12648ZZ-type
Add
BLAST
Zinc fingeri819 – 85436RING-type 1
Add
BLAST
Zinc fingeri866 – 90136RING-type 2
Add
BLAST
Zinc fingeri963 – 99634RING-type 3
Add
BLAST

GO - Molecular functioni

  1. ligase activity Source: UniProtKB-KW
  2. protein binding Source: IntAct
  3. ubiquitin-protein transferase activity Source: InterPro
  4. zinc ion binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. Notch signaling pathway Source: Reactome
  2. blood vessel development Source: Ensembl
  3. heart looping Source: Ensembl
  4. in utero embryonic development Source: Ensembl
  5. negative regulation of neuron differentiation Source: Ensembl
  6. neural tube formation Source: Ensembl
  7. positive regulation of endocytosis Source: Ensembl
  8. somitogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Notch signaling pathway, Ubl conjugation pathway

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_160089. Constitutive Signaling by NOTCH1 HD Domain Mutants.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SignaLinkiQ86YT6.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase MIB1 (EC:6.3.2.-)
Alternative name(s):
DAPK-interacting protein 1
Short name:
DIP-1
Mind bomb homolog 1
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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:21086. MIB1.

Subcellular locationi

Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite. Cell membrane By similarity
Note: Localizes to the plasma membrane By similarity. According to 1 Publication, it is mitochondrial, however such localization remains unclear. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock.2 Publications

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. cytoplasmic vesicle Source: Ensembl
  3. cytosol Source: Reactome
  4. plasma membrane Source: UniProtKB-SubCell
  5. postsynaptic density Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Left ventricular non-compaction 7 (LVNC7) [MIM:615092]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti943 – 9431V → F in LVNC7. 1 Publication
VAR_069620

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615092. phenotype.
Orphaneti54260. Left ventricular noncompaction.
PharmGKBiPA134862722.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10061006E3 ubiquitin-protein ligase MIB1
PRO_0000055943Add
BLAST

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.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiQ86YT6.
PaxDbiQ86YT6.
PRIDEiQ86YT6.

PTM databases

PhosphoSiteiQ86YT6.

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

ArrayExpressiQ86YT6.
BgeeiQ86YT6.
CleanExiHS_MIB1.
GenevestigatoriQ86YT6.

Organism-specific databases

HPAiCAB037044.
HPA019100.

Interactioni

Subunit structurei

Interacts with CEP131 and PCM1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Azi2Q9QYP62EBI-2129148,EBI-6115874From a different organism.
TBK1Q9UHD22EBI-2129148,EBI-356402

Protein-protein interaction databases

BioGridi121593. 35 interactions.
IntActiQ86YT6. 13 interactions.
MINTiMINT-2841371.

Structurei

3D structure databases

ProteinModelPortaliQ86YT6.
SMRiQ86YT6. Positions 15-70, 154-216, 382-779, 851-908, 953-1003.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini6 – 7469MIB/HERC2 1
Add
BLAST
Domaini143 – 22179MIB/HERC2 2
Add
BLAST
Repeati430 – 46031ANK 1
Add
BLAST
Repeati463 – 49230ANK 2
Add
BLAST
Repeati496 – 52530ANK 3
Add
BLAST
Repeati529 – 55830ANK 4
Add
BLAST
Repeati562 – 59130ANK 5
Add
BLAST
Repeati595 – 62733ANK 6
Add
BLAST
Repeati631 – 66131ANK 7
Add
BLAST
Repeati665 – 69430ANK 8
Add
BLAST
Repeati698 – 72932ANK 9
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili935 – 96228 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 9 ANK repeats.
Contains 2 MIB/HERC2 domains.

Keywords - Domaini

ANK repeat, Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG0666.
HOVERGENiHBG068386.
InParanoidiQ86YT6.
KOiK10645.
OMAiHDAISKE.
OrthoDBiEOG7WHH8P.
PhylomeDBiQ86YT6.
TreeFamiTF324147.

Family and domain databases

Gene3Di1.25.40.20. 4 hits.
3.30.40.10. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR010606. Mib_Herc2.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR000433. Znf_ZZ.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 3 hits.
PF06701. MIB_HERC2. 2 hits.
PF00569. ZZ. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 9 hits.
SM00184. RING. 3 hits.
SM00291. ZnF_ZZ. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. 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.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86YT6-1 [UniParc]FASTAAdd to Basket

« Hide

MSNSRNNRVM VEGVGARVVR GPDWKWGKQD GGEGHVGTVR SFESPEEVVV     50
VWDNGTAANY RCSGAYDLRI LDSAPTGIKH DGTMCDTCRQ QPIIGIRWKC 100
AECTNYDLCT VCYHGDKHHL RHRFYRITTP GSERVLLESR RKSKKITARG 150
IFAGARVVRG VDWQWEDQDG GNGRRGKVTE IQDWSASSPH SAAYVLWDNG 200
AKNLYRVGFE GMSDLKCVQD AKGGSFYRDH CPVLGEQNGN RNPGGLQIGD 250
LVNIDLDLEI VQSLQHGHGG WTDGMFETLT TTGTVCGIDE DHDIVVQYPS 300
GNRWTFNPAV LTKANIVRSG DAAQGAEGGT SQFQVGDLVQ VCYDLERIKL 350
LQRGHGEWAE AMLPTLGKVG RVQQIYSDSD LKVEVCGTSW TYNPAAVSKV 400
ASAGSAISNA SGERLSQLLK KLFETQESGD LNEELVKAAA NGDVAKVEDL 450
LKRPDVDVNG QCAGHTAMQA ASQNGHVDIL KLLLKQNVDV EAEDKDGDRA 500
VHHAAFGDEG AVIEVLHRGS ADLNARNKRR QTPLHIAVNK GHLQVVKTLL 550
DFGCHPSLQD SEGDTPLHDA ISKKRDDILA VLLEAGADVT ITNNNGFNAL 600
HHAALRGNPS AMRVLLSKLP RPWIVDEKKD DGYTALHLAA LNNHVEVAEL 650
LVHQGNANLD IQNVNQQTAL HLAVERQHTQ IVRLLVRAGA KLDIQDKDGD 700
TPLHEALRHH TLSQLRQLQD MQDVGKVDAA WEPSKNTLIM GLGTQGAEKK 750
SAASIACFLA ANGADLSIRN KKGQSPLDLC PDPNLCKALA KCHKEKVSGQ 800
VGSRSPSMIS NDSETLEECM VCSDMKRDTL FGPCGHIATC SLCSPRVKKC 850
LICKEQVQSR TKIEECVVCS DKKAAVLFQP CGHMCACENC ANLMKKCVQC 900
RAVVERRVPF IMCCGGKSSE DATDDISSGN IPVLQKDKDN TNVNADVQKL 950
QQQLQDIKEQ TMCPVCLDRL KNMIFLCGHG TCQLCGDRMS ECPICRKAIE 1000
RRILLY 1006
Length:1,006
Mass (Da):110,136
Last modified:June 1, 2003 - v1
Checksum:i5D7D0D91AF98FF18
GO

Sequence cautioni

The sequence AAN18023.1 differs from that shown. Reason: Frameshift at position 3.
The sequence AAH22403.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAC11439.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741R → 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 Publication
VAR_069385
Natural varianti943 – 9431V → F in LVNC7. 1 Publication
VAR_069620

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti327 – 3271E → K in AAN18023. 1 Publication
Sequence conflicti398 – 3981S → F in AAN18023. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002ktp.3. human.

Polymorphism databases

DMDMi68565512.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS11871.1.
RefSeqi NP_065825.1. NM_020774.3.
UniGenei Hs.140903.

3D structure databases

ProteinModelPortali Q86YT6.
SMRi Q86YT6. Positions 15-70, 154-216, 382-779, 851-908, 953-1003.
ModBasei Search...

Protein-protein interaction databases

BioGridi 121593. 35 interactions.
IntActi Q86YT6. 13 interactions.
MINTi MINT-2841371.

PTM databases

PhosphoSitei Q86YT6.

Polymorphism databases

DMDMi 68565512.

Proteomic databases

MaxQBi Q86YT6.
PaxDbi Q86YT6.
PRIDEi Q86YT6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261537 ; ENSP00000261537 ; ENSG00000101752 .
GeneIDi 57534.
KEGGi hsa:57534.
UCSCi uc002ktp.3. human.

Organism-specific databases

CTDi 57534.
GeneCardsi GC18P019284.
HGNCi HGNC:21086. MIB1.
HPAi CAB037044.
HPA019100.
MIMi 608677. gene.
615092. phenotype.
neXtProti NX_Q86YT6.
Orphaneti 54260. Left ventricular noncompaction.
PharmGKBi PA134862722.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
HOVERGENi HBG068386.
InParanoidi Q86YT6.
KOi K10645.
OMAi HDAISKE.
OrthoDBi EOG7WHH8P.
PhylomeDBi Q86YT6.
TreeFami TF324147.

Enzyme and pathway databases

UniPathwayi UPA00143 .
Reactomei REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_160089. Constitutive Signaling by NOTCH1 HD Domain Mutants.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SignaLinki Q86YT6.

Miscellaneous databases

GeneWikii MIB1_(gene).
GenomeRNAii 57534.
NextBioi 63948.
PROi Q86YT6.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86YT6.
Bgeei Q86YT6.
CleanExi HS_MIB1.
Genevestigatori Q86YT6.

Family and domain databases

Gene3Di 1.25.40.20. 4 hits.
3.30.40.10. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR010606. Mib_Herc2.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR000433. Znf_ZZ.
[Graphical view ]
Pfami PF00023. Ank. 1 hit.
PF12796. Ank_2. 3 hits.
PF06701. MIB_HERC2. 2 hits.
PF00569. ZZ. 1 hit.
[Graphical view ]
PRINTSi PR01415. ANKYRIN.
SMARTi SM00248. ANK. 9 hits.
SM00184. RING. 3 hits.
SM00291. ZnF_ZZ. 1 hit.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi 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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta."
    Itoh M., Kim C.-H., Palardy G., Oda T., Jiang Y.-J., Maust D., Yeo S.-Y., Lorick K., Wright G.J., Ariza-McNaughton L., Weissman A.M., Lewis J., Chandrasekharappa S.C., Chitnis A.B.
    Dev. Cell 4:67-82(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Yoo K.-W., Chitnis A., Kim C.-H.
    Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 195-1006.
    Tissue: Amygdala and Endometrial tumor.
  6. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 611-1006, TISSUE SPECIFICITY.
    Tissue: Brain.
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 627-1006.
    Tissue: Placenta.
  8. "Death-associated protein kinase expression in human temporal lobe epilepsy."
    Henshall D.C., Schindler C.K., So N.K., Lan J.-Q., Meller R., Simon R.P.
    Ann. Neurol. 55:485-494(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE SUBCELLULAR LOCATION.
  9. "Mapping a dynamic innate immunity protein interaction network regulating type I interferon production."
    Li S., Wang L., Berman M., Kong Y.Y., Dorf M.E.
    Immunity 35:426-440(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION OF TBK1.
  10. "A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis."
    Villumsen B.H., Danielsen J.R., Povlsen L., Sylvestersen K.B., Merdes A., Beli P., Yang Y.G., Choudhary C., Nielsen M.L., Mailand N., Bekker-Jensen S.
    EMBO J. 32:3029-3040(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN UBIQUITINATION OF CEP131 AND PCM1, FUNCTION IN CILIOGENESIS, UBIQUITINATION, INTERACTION WITH CEP131 AND PCM1, SUBCELLULAR LOCATION.
  11. Cited for: VARIANT HIS-174.
  12. Cited for: VARIANT LVNC7 PHE-943.

Entry informationi

Entry nameiMIB1_HUMAN
AccessioniPrimary (citable) accession number: Q86YT6
Secondary accession number(s): B0YJ38
, Q2TB37, Q68D01, Q6YI51, Q8NBY0, Q8TCB5, Q8TCL7, Q9P2M3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: June 1, 2003
Last modified: September 3, 2014
This is version 114 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi