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UniProtKB - Q9NR56 (MBNL1_HUMAN)

Entry version 175 (02 Jun 2021)
Sequence version 2 (16 Nov 2001)
Previous versions | rss
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Protein

Muscleblind-like protein 1

Gene

MBNL1

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

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. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.

5 Publications

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 fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri179 – 207C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri215 – 241C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

<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 functionRNA-binding
Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NR56

<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:
Muscleblind-like protein 1
Alternative name(s):
Triplet-expansion RNA-binding protein
<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:MBNL1
Synonyms:EXP, KIAA0428, MBNL
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6923, MBNL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606516, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NR56

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000152601.17

<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

Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dystrophia myotonica 1 (DM1)2 Publications
The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.
Disease descriptionA muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.
Related information in OMIM
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_07650832T → M in DM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs185894411Ensembl.1
Natural variantiVAR_076509171 – 173Missing in DM1; unknown pathological significance. 1 Publication3
Natural variantiVAR_076510338P → S in DM1; unknown pathological significance. 1 Publication1
Corneal dystrophy, Fuchs endothelial, 3 (FECD3)1 Publication
The protein represented in this entry is involved in disease pathogenesis. In corneal endothelial cells from patients, MBNL1 is sequestered by TCF4 RNAs containing pathogenic CUG triplet repeat expansions. This results in missplicing of essential MBNL1-regulated mRNAs.1 Publication
Disease descriptionA late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Related information in OMIM

Keywords - Diseasei

Corneal dystrophy, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4154
MIMi160900, phenotype
613267, phenotype

Open Targets

More...OpenTargetsi		ENSG00000152601

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30666

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NR56, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1293317

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MBNL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		17369313

<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_00000891781 – 388Muscleblind-like protein 1Add BLAST388

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 residuei6PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NR56

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NR56

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NR56

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NR56

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

More...PaxDbi		Q9NR56

PeptideAtlas

More...PeptideAtlasi		Q9NR56

PRoteomics IDEntifications database

More...PRIDEi		Q9NR56

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19310
82279 [Q9NR56-1]
82280 [Q9NR56-2]
82281 [Q9NR56-3]
82282 [Q9NR56-4]
82283 [Q9NR56-5]
82284 [Q9NR56-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NR56

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

More...PhosphoSitePlusi		Q9NR56

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9NR56

<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

Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000152601, Expressed in calcaneal tendon and 260 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NR56, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NR56, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000152601, Low tissue specificity

<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 DDX1 and YBX1.

Interacts with HNRNPH1; the interaction in RNA-independent.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110324, 52 interactors

Protein interaction database and analysis system

More...IntActi		Q9NR56, 28 interactors

Molecular INTeraction database

More...MINTi		Q9NR56

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000282486

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NR56, 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

Secondary structure

1388
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9NR56

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9NR56

<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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the muscleblind family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri179 – 207C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri215 – 241C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2494, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182897

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_053536_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NR56

Database of Orthologous Groups

More...OrthoDBi		1543798at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NR56

TreeFam database of animal gene trees

More...TreeFami		TF321931

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000571, Znf_CCCH

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00642, zf-CCCH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00356, ZnF_C3H1, 4 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50103, ZF_C3H1, 4 hits

<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 (7+)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 7 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR56-1) [UniParc]FASTAAdd to basket
Also known as: EXP42

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
MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV 
        60         70         80         90        100
IACFDSLKGR CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM 
       110        120        130        140        150
QLANAMMPGA PLQPVPMFSV APSLATNASA AAFNPYLGPV SPSLVPAEIL 
       160        170        180        190        200
PTAPMLVTGN PGVPVPAAAA AAAQKLMRTD RLEVCREYQR GNCNRGENDC 
       210        220        230        240        250
RFAHPADSTM IDTNDNTVTV CMDYIKGRCS REKCKYFHPP AHLQAKIKAA 
       260        270        280        290        300
QYQVNQAAAA QAAATAAAMT QSAVKSLKRP LEATFDLGIP QAVLPPLPKR 
       310        320        330        340        350
PALEKTNGAT AVFNTGIFQY QQALANMQLQ QHTAFLPPVP MVHGATPATV 
       360        370        380 
SAATTSATSV PFAATATANQ IPIISAEHLT SHKYVTQM
Length:388
Mass (Da):41,817
Last modified:November 16, 2001 - v2
<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:i118D256A81A86695
GO
Isoform 2 (identifier: Q9NR56-2) [UniParc]FASTAAdd to basket
Also known as: EXP40

The sequence of this isoform differs from the canonical sequence as follows:
     270-287: Missing.

Show »
Length:370
Mass (Da):39,831
Checksum:iABF12CBCCDE1FF5C
GO
Isoform 3 (identifier: Q9NR56-3) [UniParc]FASTAAdd to basket
Also known as: EXP35

The sequence of this isoform differs from the canonical sequence as follows:
     116-183: Missing.
     270-287: Missing.

Show »
Length:302
Mass (Da):33,050
Checksum:i5D1D1AE2D6219425
GO
Isoform 4 (identifier: Q9NR56-4) [UniParc]FASTAAdd to basket
Also known as: EXP36

The sequence of this isoform differs from the canonical sequence as follows:
     116-183: Missing.
     270-287: Missing.
     338-338: P → PGSILCMTPATSV

Show »
Length:314
Mass (Da):34,211
Checksum:i9535C699B3BBE210
GO
Isoform 5 (identifier: Q9NR56-5) [UniParc]FASTAAdd to basket
Also known as: EXP41

The sequence of this isoform differs from the canonical sequence as follows:
     270-287: Missing.
     338-338: P → PGSILCMTPATSV

Show »
Length:382
Mass (Da):40,992
Checksum:iBE7176F8F2928ACF
GO
Isoform 6 (identifier: Q9NR56-6) [UniParc]FASTAAdd to basket
Also known as: EXP41S

The sequence of this isoform differs from the canonical sequence as follows:
     270-287: Missing.
     338-338: P → PGSILCMTPATSV
     339-388: VPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM → DTHNICRTSD

Show »
Length:342
Mass (Da):37,074
Checksum:i179E9FA2F1A02FC4
GO
Isoform 7 (identifier: Q9NR56-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-370: TQSAVKSLKR...PFAATATANQ → FPWCTVLRQP...TSCPAAAGKM

Show »
Length:340
Mass (Da):36,992
Checksum:i9A605A3824FDA8FA
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q86VM6Q86VM6_HUMAN
MBNL1 protein
MBNL1 hCG_28028
343Annotation score:

Annotation score:2 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>
A0A0A0MQX8A0A0A0MQX8_HUMAN
Muscleblind-like protein 1
MBNL1
400Annotation score:

Annotation score:2 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>
C9JP00C9JP00_HUMAN
Muscleblind-like protein 1
MBNL1
348Annotation score:

Annotation score:2 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>
H7C4Y1H7C4Y1_HUMAN
Muscleblind-like protein 1
MBNL1
210Annotation score:

Annotation score:2 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>
C9JCX1C9JCX1_HUMAN
Muscleblind-like protein 1
MBNL1
155Annotation 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>
H7C4T5H7C4T5_HUMAN
Muscleblind-like protein 1
MBNL1
329Annotation 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>
C9J7P7C9J7P7_HUMAN
Muscleblind-like protein 1
MBNL1
90Annotation 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>
C9J4T8C9J4T8_HUMAN
Muscleblind-like protein 1
MBNL1
58Annotation 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>

<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 BAA24858 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 7 (identifier: Q9NR56-7)
<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 conflicti317A → AA in AAP30726 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07650832T → M in DM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs185894411Ensembl.1
Natural variantiVAR_076509171 – 173Missing in DM1; unknown pathological significance. 1 Publication3
Natural variantiVAR_076510338P → S in DM1; unknown pathological significance. 1 Publication1

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_006429116 – 183Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_044903270 – 370TQSAV…ATANQ → FPWCTVLRQPLCPQQQHLPQ VFPSLQQPQPTSPILDASTL LGATSCPAAAGKM in isoform 7. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_006430270 – 287Missing in isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6. 6 PublicationsAdd BLAST18
Alternative sequenceiVSP_043799338P → PGSILCMTPATSV in isoform 4, isoform 5 and isoform 6. 5 Publications1
Alternative sequenceiVSP_043800339 – 388VPMVH…YVTQM → DTHNICRTSD in isoform 6. 1 PublicationAdd BLAST50

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
Y13829 mRNA Translation: CAA74155.1
AB007888 mRNA Translation: BAA24858.2 Different initiation.
AF255334 mRNA Translation: AAF76138.1
AF395876 mRNA Translation: AAK82889.1
AF401998 mRNA Translation: AAK94915.1
AJ308400 mRNA Translation: CAC83727.1
AF497718 mRNA Translation: AAP30726.1
AF497719 mRNA Translation: AAP30727.1
AC026347 Genomic DNA No translation available.
AC106722 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78775.1
BC043493 mRNA Translation: AAH43493.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3163.1 [Q9NR56-5]
CCDS3164.1 [Q9NR56-2]
CCDS3165.1 [Q9NR56-1]
CCDS3166.1 [Q9NR56-4]
CCDS3167.1 [Q9NR56-7]
CCDS3168.1 [Q9NR56-6]
CCDS54656.1 [Q9NR56-3]

NCBI Reference Sequences

More...RefSeqi		NP_001300986.1, NM_001314057.1
NP_066368.2, NM_021038.4 [Q9NR56-5]
NP_997175.1, NM_207292.2 [Q9NR56-2]
NP_997176.1, NM_207293.1 [Q9NR56-1]
NP_997177.1, NM_207294.1 [Q9NR56-3]
NP_997178.1, NM_207295.1 [Q9NR56-4]
NP_997179.1, NM_207296.1 [Q9NR56-7]
NP_997180.1, NM_207297.1 [Q9NR56-6]
XP_005247523.1, XM_005247466.4
XP_005247528.1, XM_005247471.4
XP_011511149.1, XM_011512847.2
XP_011511151.1, XM_011512849.2
XP_016861914.1, XM_017006425.1
XP_016861915.1, XM_017006426.1
XP_016861916.1, XM_017006427.1
XP_016861917.1, XM_017006428.1
XP_016861918.1, XM_017006429.1
XP_016861919.1, XM_017006430.1
XP_016861920.1, XM_017006431.1
XP_016861925.1, XM_017006436.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000282486; ENSP00000282486; ENSG00000152601 [Q9NR56-1]
ENST00000324196; ENSP00000319374; ENSG00000152601 [Q9NR56-7]
ENST00000324210; ENSP00000319429; ENSG00000152601 [Q9NR56-5]
ENST00000355460; ENSP00000347637; ENSG00000152601 [Q9NR56-2]
ENST00000357472; ENSP00000350064; ENSG00000152601 [Q9NR56-6]
ENST00000463374; ENSP00000418108; ENSG00000152601 [Q9NR56-1]
ENST00000465907; ENSP00000417630; ENSG00000152601 [Q9NR56-4]
ENST00000485509; ENSP00000418876; ENSG00000152601 [Q9NR56-7]
ENST00000485910; ENSP00000418427; ENSG00000152601 [Q9NR56-3]
ENST00000492948; ENSP00000420103; ENSG00000152601 [Q9NR56-6]
ENST00000545754; ENSP00000437491; ENSG00000152601 [Q9NR56-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4154

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4154

UCSC genome browser

More...UCSCi		uc003ezh.4, human [Q9NR56-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13829 mRNA Translation: CAA74155.1
AB007888 mRNA Translation: BAA24858.2 Different initiation.
AF255334 mRNA Translation: AAF76138.1
AF395876 mRNA Translation: AAK82889.1
AF401998 mRNA Translation: AAK94915.1
AJ308400 mRNA Translation: CAC83727.1
AF497718 mRNA Translation: AAP30726.1
AF497719 mRNA Translation: AAP30727.1
AC026347 Genomic DNA No translation available.
AC106722 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78775.1
BC043493 mRNA Translation: AAH43493.1
CCDSiCCDS3163.1 [Q9NR56-5]
CCDS3164.1 [Q9NR56-2]
CCDS3165.1 [Q9NR56-1]
CCDS3166.1 [Q9NR56-4]
CCDS3167.1 [Q9NR56-7]
CCDS3168.1 [Q9NR56-6]
CCDS54656.1 [Q9NR56-3]
RefSeqiNP_001300986.1, NM_001314057.1
NP_066368.2, NM_021038.4 [Q9NR56-5]
NP_997175.1, NM_207292.2 [Q9NR56-2]
NP_997176.1, NM_207293.1 [Q9NR56-1]
NP_997177.1, NM_207294.1 [Q9NR56-3]
NP_997178.1, NM_207295.1 [Q9NR56-4]
NP_997179.1, NM_207296.1 [Q9NR56-7]
NP_997180.1, NM_207297.1 [Q9NR56-6]
XP_005247523.1, XM_005247466.4
XP_005247528.1, XM_005247471.4
XP_011511149.1, XM_011512847.2
XP_011511151.1, XM_011512849.2
XP_016861914.1, XM_017006425.1
XP_016861915.1, XM_017006426.1
XP_016861916.1, XM_017006427.1
XP_016861917.1, XM_017006428.1
XP_016861918.1, XM_017006429.1
XP_016861919.1, XM_017006430.1
XP_016861920.1, XM_017006431.1
XP_016861925.1, XM_017006436.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D2NX-ray2.70A9-90[»]
3D2QX-ray1.50A/B/C/D178-246[»]
3D2SX-ray1.70A/B/C/D178-246[»]
5U6HNMR-A1-92[»]
5U6LNMR-A173-255[»]
5U9BNMR-A1-92[»]
SMRiQ9NR56
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110324, 52 interactors
IntActiQ9NR56, 28 interactors
MINTiQ9NR56
STRINGi9606.ENSP00000282486

Chemistry databases

ChEMBLiCHEMBL1293317

PTM databases

iPTMnetiQ9NR56
PhosphoSitePlusiQ9NR56
SwissPalmiQ9NR56

Genetic variation databases

BioMutaiMBNL1
DMDMi17369313

Proteomic databases

EPDiQ9NR56
jPOSTiQ9NR56
MassIVEiQ9NR56
MaxQBiQ9NR56
PaxDbiQ9NR56
PeptideAtlasiQ9NR56
PRIDEiQ9NR56
ProteomicsDBi19310
82279 [Q9NR56-1]
82280 [Q9NR56-2]
82281 [Q9NR56-3]
82282 [Q9NR56-4]
82283 [Q9NR56-5]
82284 [Q9NR56-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4292, 345 antibodies

The DNASU plasmid repository

More...DNASUi		4154

Genome annotation databases

EnsembliENST00000282486; ENSP00000282486; ENSG00000152601 [Q9NR56-1]
ENST00000324196; ENSP00000319374; ENSG00000152601 [Q9NR56-7]
ENST00000324210; ENSP00000319429; ENSG00000152601 [Q9NR56-5]
ENST00000355460; ENSP00000347637; ENSG00000152601 [Q9NR56-2]
ENST00000357472; ENSP00000350064; ENSG00000152601 [Q9NR56-6]
ENST00000463374; ENSP00000418108; ENSG00000152601 [Q9NR56-1]
ENST00000465907; ENSP00000417630; ENSG00000152601 [Q9NR56-4]
ENST00000485509; ENSP00000418876; ENSG00000152601 [Q9NR56-7]
ENST00000485910; ENSP00000418427; ENSG00000152601 [Q9NR56-3]
ENST00000492948; ENSP00000420103; ENSG00000152601 [Q9NR56-6]
ENST00000545754; ENSP00000437491; ENSG00000152601 [Q9NR56-4]
GeneIDi4154
KEGGihsa:4154
UCSCiuc003ezh.4, human [Q9NR56-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4154
DisGeNETi4154

GeneCards: human genes, protein and diseases

More...GeneCardsi		MBNL1
HGNCiHGNC:6923, MBNL1
HPAiENSG00000152601, Low tissue specificity
MIMi160900, phenotype
606516, gene
613267, phenotype
neXtProtiNX_Q9NR56
OpenTargetsiENSG00000152601
PharmGKBiPA30666
VEuPathDBiHostDB:ENSG00000152601.17

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2494, Eukaryota
GeneTreeiENSGT00950000182897
HOGENOMiCLU_053536_0_0_1
InParanoidiQ9NR56
OrthoDBi1543798at2759
PhylomeDBiQ9NR56
TreeFamiTF321931

Enzyme and pathway databases

PathwayCommonsiQ9NR56

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4154, 80 hits in 1010 CRISPR screens

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

More...ChiTaRSi		MBNL1, human
EvolutionaryTraceiQ9NR56

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MBNL1

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

More...GenomeRNAii		4154
PharosiQ9NR56, Tbio

Protein Ontology

More...PROi		PR:Q9NR56
RNActiQ9NR56, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000152601, Expressed in calcaneal tendon and 260 other tissues
ExpressionAtlasiQ9NR56, baseline and differential
GenevisibleiQ9NR56, HS

Family and domain databases

InterProiView protein in InterPro
IPR000571, Znf_CCCH
PfamiView protein in Pfam
PF00642, zf-CCCH, 1 hit
SMARTiView protein in SMART
SM00356, ZnF_C3H1, 4 hits
PROSITEiView protein in PROSITE
PS50103, ZF_C3H1, 4 hits

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 nameiMBNL1_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: Q9NR56
Secondary accession number(s): E9PBW7
, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3
<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: November 16, 2001
Last sequence update: November 16, 2001
Last modified: June 2, 2021
This is version 175 of the entry and version 2 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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