Q9NUK0 (MBNL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 107.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Muscleblind-like protein 3 Alternative name(s): Cys3His CCG1-required protein Muscleblind-like X-linked protein Protein HCHCR | ||||
| Gene names |
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| 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 | 354 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction. Ref.1 Ref.9 |
| Subcellular location | Nucleus. Cytoplasm. Note: Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts. Ref.8 |
| Tissue specificity | Highly expressed in the placenta. Ref.8 |
| Sequence similarities | Belongs to the muscleblind family. Contains 4 C3H1-type zinc fingers. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NUK0-1) Also known as: HCHCR-G; G; 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: Q9NUK0-2) Also known as: HCHCR-R; R; The sequence of this isoform differs from the canonical sequence as follows: 258-292: Missing. 352-354: LKF → IPQLSIDELNSSMFVSQM | ||||||
| Isoform 3 (identifier: Q9NUK0-3) The sequence of this isoform differs from the canonical sequence as follows: 1-50: Missing. 51-57: VVACFDS → MERASKN | ||||||
| Isoform 4 (identifier: Q9NUK0-4) The sequence of this isoform differs from the canonical sequence as follows: 1-50: Missing. 51-57: VVACFDS → MERASKN 308-319: Missing. | ||||||
| Isoform 5 (identifier: Q9NUK0-5) The sequence of this isoform differs from the canonical sequence as follows: 1-96: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 354 | 354 | Muscleblind-like protein 3 | PRO_0000089180 | |||||
Regions | |||||||||
| Zinc finger | 14 – 42 | 29 | C3H1-type 1 | ||||||
| Zinc finger | 48 – 74 | 27 | C3H1-type 2 | ||||||
| Zinc finger | 174 – 202 | 29 | C3H1-type 3 | ||||||
| Zinc finger | 210 – 236 | 27 | C3H1-type 4 | ||||||
| Compositional bias | 118 – 169 | 52 | Pro-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 96 | 96 | Missing in isoform 5. | VSP_044309 | |||||
| Alternative sequence | 1 – 50 | 50 | Missing in isoform 3 and isoform 4. | VSP_006431 | |||||
| Alternative sequence | 51 – 57 | 7 | VVACFDS → MERASKN in isoform 3 and isoform 4. | VSP_006432 | |||||
| Alternative sequence | 258 – 292 | 35 | Missing in isoform 2. | VSP_006433 | |||||
| Alternative sequence | 308 – 319 | 12 | Missing in isoform 4. | VSP_015935 | |||||
| Alternative sequence | 352 – 354 | 3 | LKF → IPQLSIDELNSSMFVSQM in isoform 2. | VSP_006434 | |||||
Experimental info | |||||||||
| Sequence conflict | 113 | 1 | S → P in AAQ75759. Ref.3 | ||||||
| Sequence conflict | 187 | 1 | N → I in AAQ75759. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR." Squillace R.M., Chenault D.M., Wang E.H. Dev. Biol. 250:218-230(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION. Tissue: Embryonic kidney. |
| [2] | "MBLX39 sequence." Urbinati C.R., Swanson M.S. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | Li H., Yu R., Zheng G., Ke R., Zhou G., Shen C., Li M., Xiao W., Lin L., Yang S. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). |
| [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 3 AND 5). Tissue: Placenta. |
| [5] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [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] (ISOFORMS 1 AND 5). Tissue: Lung. |
| [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 60-354. Tissue: Testis. |
| [8] | "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells." Fardaei M., Rogers M.T., Thorpe H.M., Larkin K., Hamshere M.G., Harper P.S., Brook J.D. Hum. Mol. Genet. 11:805-814(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, ALTERNATIVE SPLICING. |
| [9] | "Muscleblind proteins regulate alternative splicing." Ho T.H., Charlet-B N., Poulos M.G., Singh G., Swanson M.S., Cooper T.A. EMBO J. 23:3103-3112(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY072692 mRNA. Translation: AAL65661.1. AF467070 mRNA. Translation: AAL87670.1. AB077698 mRNA. Translation: BAB85648.1. AB077699 mRNA. Translation: BAB85649.1. AJ427918 mRNA. Translation: CAD20869.1. AJ427919 mRNA. Translation: CAD20870.1. AF491305 mRNA. Translation: AAM09533.1. AY372211 mRNA. Translation: AAQ75759.1. AK002178 mRNA. Translation: BAA92124.1. AK300248 mRNA. Translation: BAG62014.1. AL161442 Genomic DNA. No translation available. AL050310 Genomic DNA. Translation: CAI43102.1. AL050310 Genomic DNA. Translation: CAI43105.1. AL050310 Genomic DNA. Translation: CAI43106.1. AL050310 Genomic DNA. Translation: CAI43108.1. BC042090 mRNA. Translation: AAH42090.1. BC074775 mRNA. Translation: AAH74775.1. BC074776 mRNA. Translation: AAH74776.1. AL133625 mRNA. Translation: CAB63751.1. |
| IPI | IPI00020062. IPI00219790. IPI00219792. IPI00654643. |
| PIR | T43463. |
| RefSeq | NP_001164172.1. NM_001170701.1. NP_001164173.1. NM_001170702.1. NP_001164174.1. NM_001170703.1. NP_001164175.1. NM_001170704.1. NP_060858.2. NM_018388.3. NP_597846.1. NM_133486.2. |
| UniGene | Hs.105134. Hs.596347. |
3D structure databases | |
| ProteinModelPortal | Q9NUK0. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9NUK0. |
Polymorphism databases | |
| DMDM | 26396510. |
Proteomic databases | |
| PaxDb | Q9NUK0. |
| PRIDE | Q9NUK0. |
Protocols and materials databases | |
| DNASU | 55796. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000370839; ENSP00000359876; ENSG00000076770. ENST00000370844; ENSP00000359881; ENSG00000076770. ENST00000370849; ENSP00000359886; ENSG00000076770. ENST00000370853; ENSP00000359890; ENSG00000076770. ENST00000394311; ENSP00000377848; ENSG00000076770. ENST00000538204; ENSP00000439618; ENSG00000076770. |
| GeneID | 55796. |
| KEGG | hsa:55796. |
| UCSC | uc004ewt.3. human. uc004ewu.4. human. uc004ewv.4. human. uc004ewx.2. human. |
Organism-specific databases | |
| CTD | 55796. |
| GeneCards | GC0XM131506. |
| HGNC | HGNC:20564. MBNL3. |
| HPA | HPA001584. |
| MIM | 300413. gene. |
| neXtProt | NX_Q9NUK0. |
| PharmGKB | PA134992936. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG241142. |
| HOVERGEN | HBG006999. |
| InParanoid | Q9NUK0. |
| KO | K14943. |
| OMA | KLRAAHH. |
| PhylomeDB | Q9NUK0. |
Gene expression databases | |
| ArrayExpress | Q9NUK0. |
| Bgee | Q9NUK0. |
| Genevestigator | Q9NUK0. |
| GermOnline | ENSG00000076770. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000571. Znf_CCCH. [Graphical view] |
| SMART | SM00356. ZnF_C3H1. 4 hits. [Graphical view] |
| PROSITE | PS50103. ZF_C3H1. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 55796. |
| NextBio | 60923. |
| SOURCE | Search... |
Entry information
| Entry name | MBNL3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NUK0 Secondary accession number(s): Q5JXN8 Q9UF37 | ||||||||
| Entry history |
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| 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 X Human chromosome X: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
