Q96AX9 (MIB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 109.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: E3 ubiquitin-protein ligase MIB2 EC=6.3.2.- Alternative name(s): Mind bomb homolog 2 Novel zinc finger protein Short name=Novelzin Putative NF-kappa-B-activating protein 002N Skeletrophin Zinc finger ZZ type with ankyrin repeat domain protein 1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1013 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Pathway | |
| Subunit structure | Interacts with actin monomer. Ref.1 |
| Subcellular location | Cytoplasm. Endosome. Note: Colocalizes with endosomal compartments. Ref.1 |
| Tissue specificity | Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney. Ref.1 |
| Induction | 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. Ref.1 |
| Post-translational modification | Ubiquitinated. Possibly via autoubiquitination By similarity. |
| Sequence similarities | Contains 9 ANK repeats. Contains 2 MIB/HERC2 domains. Contains 2 RING-type zinc fingers. Contains 1 ZZ-type zinc finger. |
| Sequence caution | The sequence AAH16490.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB82979.1 differs from that shown. Reason: Frameshift at positions 193 and 205. The sequence BAC03707.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC04646.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC04752.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC04952.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Notch signaling pathway Ubl conjugation pathway |
| Cellular component | Cytoplasm Endosome |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | ANK repeat Repeat Zinc-finger |
| Ligand | Actin-binding Metal-binding Zinc |
| Molecular function | Ligase |
| PTM | Phosphoprotein Ubl conjugation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | Notch signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of I-kappaB kinase/NF-kappaB cascadeInferred from mutant phenotype Ref.3. Source: UniProtKB |
| Cellular_component | endosome Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | signal transducer activity Inferred from mutant phenotype Ref.3. Source: UniProtKB ubiquitin-protein ligase activityInferred from electronic annotation. Source: InterPro zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| TBK1 | Q9UHD2 | 2 | EBI-2130249,EBI-356402 |
Alternative products
| This entry describes 11 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96AX9-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96AX9-2) Also known as: Alpha; The sequence of this isoform differs from the canonical sequence as follows: 37-50: Missing. | ||||||
| Isoform 3 (identifier: Q96AX9-3) Also known as: Gamma; The sequence of this isoform differs from the canonical sequence as follows: 347-350: Missing. | ||||||
| Isoform 4 (identifier: Q96AX9-4) Also known as: Beta; The sequence of this isoform differs from the canonical sequence as follows: 234-298: Missing. | ||||||
| Isoform 5 (identifier: Q96AX9-5) The sequence of this isoform differs from the canonical sequence as follows: 383-417: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 10 (identifier: Q96AX9-10) The sequence of this isoform differs from the canonical sequence as follows: 1-58: Missing. 234-298: Missing. 853-1013: ERQAGGGAAP...PIRDRIQIFV → VRAQDEEVHQVPGGRQQETAPRRL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q96AX9-7) The sequence of this isoform differs from the canonical sequence as follows: 1-159: Missing. | ||||||
| Isoform 8 (identifier: Q96AX9-8) The sequence of this isoform differs from the canonical sequence as follows: 1-58: Missing. 858-860: GGA → RGR 861-1013: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 9 (identifier: Q96AX9-9) The sequence of this isoform differs from the canonical sequence as follows: 673-1013: Missing. | ||||||
| Isoform 6 (identifier: Q96AX9-6) The sequence of this isoform differs from the canonical sequence as follows: 347-382: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 11 (identifier: Q96AX9-11) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MAGALRRGRALGSRPSGPTVSSRRSPQCPVAQEGLGARSRPRVAPRSLARCGPSSRLM 42-55: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1013 | 1013 | E3 ubiquitin-protein ligase MIB2 | PRO_0000055947 | |||||
Regions | |||||||||
| Domain | 59 – 138 | 80 | MIB/HERC2 1 | ||||||
| Domain | 207 – 285 | 79 | MIB/HERC2 2 | ||||||
| Repeat | 522 – 551 | 30 | ANK 1 | ||||||
| Repeat | 555 – 584 | 30 | ANK 2 | ||||||
| Repeat | 588 – 617 | 30 | ANK 3 | ||||||
| Repeat | 621 – 653 | 33 | ANK 4 | ||||||
| Repeat | 657 – 686 | 30 | ANK 5 | ||||||
| Repeat | 691 – 721 | 31 | ANK 6 | ||||||
| Repeat | 725 – 754 | 30 | ANK 7 | ||||||
| Repeat | 758 – 786 | 29 | ANK 8 | ||||||
| Repeat | 827 – 856 | 30 | ANK 9 | ||||||
| Zinc finger | 143 – 190 | 48 | ZZ-type | ||||||
| Zinc finger | 890 – 925 | 36 | RING-type 1 | ||||||
| Zinc finger | 969 – 1002 | 34 | RING-type 2 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 309 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 159 | 159 | Missing in isoform 7. | VSP_035508 | |||||
| Alternative sequence | 1 – 58 | 58 | Missing in isoform 8 and isoform 10. | VSP_035509 | |||||
| Alternative sequence | 1 | 1 | M → MAGALRRGRALGSRPSGPTV SSRRSPQCPVAQEGLGARSR PRVAPRSLARCGPSSRLM in isoform 11. | VSP_046405 | |||||
| Alternative sequence | 37 – 50 | 14 | Missing in isoform 2. | VSP_014392 | |||||
| Alternative sequence | 42 – 55 | 14 | Missing in isoform 11. | VSP_046406 | |||||
| Alternative sequence | 234 – 298 | 65 | Missing in isoform 4 and isoform 10. | VSP_014393 | |||||
| Alternative sequence | 347 – 382 | 36 | Missing in isoform 6. | VSP_014394 | |||||
| Alternative sequence | 347 – 350 | 4 | Missing in isoform 3. | VSP_014395 | |||||
| Alternative sequence | 383 – 417 | 35 | Missing in isoform 5. | VSP_014396 | |||||
| Alternative sequence | 673 – 1013 | 341 | Missing in isoform 9. | VSP_035510 | |||||
| Alternative sequence | 853 – 1013 | 161 | ERQAG…IQIFV → VRAQDEEVHQVPGGRQQETA PRRL in isoform 10. | VSP_045186 | |||||
| Alternative sequence | 858 – 860 | 3 | GGA → RGR in isoform 8. | VSP_035511 | |||||
| Alternative sequence | 861 – 1013 | 153 | Missing in isoform 8. | VSP_035512 | |||||
| Natural variant | 15 | 1 | F → L. Ref.3 Ref.4 Corresponds to variant rs7418389 [ dbSNP | Ensembl ]. | VAR_046668 | |||||
| Natural variant | 45 | 1 | M → T. Ref.1 Ref.2 Ref.4 Corresponds to variant rs12755088 [ dbSNP | Ensembl ]. | VAR_046669 | |||||
Experimental info | |||||||||
| Sequence conflict | 80 | 1 | K → N in AAH16490. Ref.6 | ||||||
| Sequence conflict | 176 – 177 | 2 | CY → SN in BAB82979. Ref.2 | ||||||
| Sequence conflict | 221 | 1 | V → A in BAB82979. Ref.2 | ||||||
| Sequence conflict | 226 | 1 | D → F in BAC77353. Ref.3 | ||||||
| Sequence conflict | 235 | 1 | G → R in BAG63969. Ref.4 | ||||||
| Sequence conflict | 273 | 1 | H → Y in AAH37542. Ref.6 | ||||||
| Sequence conflict | 375 | 1 | F → L in BAC04646. Ref.4 | ||||||
| Sequence conflict | 508 | 1 | D → G in AAH37542. Ref.6 | ||||||
| Sequence conflict | 637 | 1 | S → G in AAH37542. Ref.6 | ||||||
| Sequence conflict | 689 | 1 | K → E in BAC04752. Ref.4 | ||||||
| Sequence conflict | 692 | 1 | G → D in BAG53705. Ref.4 | ||||||
| Sequence conflict | 937 | 1 | S → F in BAC04646. Ref.4 | ||||||
| Sequence conflict | 975 | 1 | S → R in BAC77353. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma." Takeuchi T., Heng H.H.Q., Ye C.J., Liang S.-B., Iwata J., Sonobe H., Ohtsuki Y. Am. J. Pathol. 163:1395-1404(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, INTERACTION WITH ACTIN, VARIANT THR-45. |
| [2] | "A novel zinc finger protein." Takeuchi T. Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), VARIANT THR-45. |
| [3] | "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways." Matsuda A., Suzuki Y., Honda G., Muramatsu S., Matsuzaki O., Nagano Y., Doi T., Shimotohno K., Harada T., Nishida E., Hayashi H., Sugano S. Oncogene 22:3307-3318(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-15. Tissue: Lung fibroblast. |
| [4] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 7; 8; 9; 10 AND 11), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 151-1013 (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 292-1013 (ISOFORMS 1/2/6/7), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 327-1013 (ISOFORM 4), VARIANTS LEU-15 AND THR-45. Tissue: Brain, Heart, Spleen, Teratocarcinoma, Testis and Tongue. |
| [5] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM 2). Tissue: Brain and Lymph. |
| [7] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 252-1013 (ISOFORMS 1/2). Tissue: Testis. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00059796. IPI00383255. IPI00386276. IPI00414714. IPI00477349. IPI00607637. IPI00658021. IPI00914018. IPI00914032. IPI00914066. |
| RefSeq | NP_001164157.1. NM_001170686.1. NP_001164158.1. NM_001170687.1. NP_001164159.1. NM_001170688.1. NP_001164160.1. NM_001170689.1. NP_543151.2. NM_080875.2. |
| UniGene | Hs.135805. Hs.593430. |
3D structure databases | |
| ProteinModelPortal | Q96AX9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96AX9. 7 interactions. |
PTM databases | |
| PhosphoSite | Q96AX9. |
Polymorphism databases | |
| DMDM | 209572707. |
Proteomic databases | |
| PaxDb | Q96AX9. |
| PRIDE | Q96AX9. |
Protocols and materials databases | |
| DNASU | 142678. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000355826; ENSP00000348081; ENSG00000197530. ENST00000357210; ENSP00000349741; ENSG00000197530. ENST00000360522; ENSP00000353713; ENSG00000197530. ENST00000378710; ENSP00000367982; ENSG00000197530. ENST00000378712; ENSP00000367984; ENSG00000197530. |
| GeneID | 142678. |
| KEGG | hsa:142678. |
| UCSC | uc001agj.3. human. uc009vkh.3. human. |
Organism-specific databases | |
| CTD | 142678. |
| GeneCards | GC01P001540. |
| HGNC | HGNC:30577. MIB2. |
| HPA | HPA027871. |
| MIM | 611141. gene. |
| neXtProt | NX_Q96AX9. |
| PharmGKB | PA134924284. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0666. |
| HOVERGEN | HBG068386. |
| InParanoid | Q96AX9. |
| KO | K10645. |
| OrthoDB | EOG4Z62MV. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
| UniPathway | UPA00143. |
Gene expression databases | |
| ArrayExpress | Q96AX9. |
| Bgee | Q96AX9. |
| Genevestigator | Q96AX9. |
| GermOnline | ENSG00000197530. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.20. 4 hits. 3.30.40.10. 1 hit. |
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR010606. Mib_Herc2. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. IPR000433. Znf_ZZ. [Graphical view] |
| Pfam | PF12796. Ank_2. 2 hits. PF06701. MIB_HERC2. 2 hits. PF00569. ZZ. 1 hit. [Graphical view] |
| PRINTS | PR01415. ANKYRIN. |
| SMART | SM00248. ANK. 9 hits. SM00184. RING. 2 hits. SM00291. ZnF_ZZ. 1 hit. [Graphical view] |
| SUPFAM | SSF48403. ANK. 1 hit. |
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 5 hits. PS51416. MIB_HERC2. 2 hits. PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 2 hits. PS01357. ZF_ZZ_1. 1 hit. PS50135. ZF_ZZ_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 142678. |
| NextBio | 84589. |
| SOURCE | Search... |
Entry information
| Entry name | MIB2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96AX9 Secondary accession number(s): A2AGM5 Q8WYN1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
