UniProtKB - Q9NUK0 (MBNL3_HUMAN)
Protein
Muscleblind-like protein 3
Gene
MBNL3
Organism
Homo sapiens (Human)
Status
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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 14 – 42 | C3H1-type 1PROSITE-ProRule annotationAdd BLAST | 29 | |
Zinc fingeri | 48 – 74 | C3H1-type 2PROSITE-ProRule annotationAdd BLAST | 27 | |
Zinc fingeri | 174 – 202 | C3H1-type 3PROSITE-ProRule annotationAdd BLAST | 29 | |
Zinc fingeri | 210 – 236 | C3H1-type 4PROSITE-ProRule annotationAdd BLAST | 27 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
GO - Biological processi
- mRNA processing Source: UniProtKB-KW
- multicellular organism development Source: UniProtKB-KW
- negative regulation of myoblast differentiation Source: Ensembl
- regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
- regulation of RNA splicing Source: UniProtKB
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | Developmental protein |
Biological process | mRNA processing, mRNA splicing |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9NUK0 |
Names & Taxonomyi
Protein namesi | Recommended name: Muscleblind-like protein 3Alternative name(s): Cys3His CCG1-required protein Muscleblind-like X-linked protein Protein HCHCR |
Gene namesi | Name:MBNL3 Synonyms:CHCR, MBLX39, MBXL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000076770.14 |
HGNCi | HGNC:20564, MBNL3 |
MIMi | 300413, gene |
neXtProti | NX_Q9NUK0 |
Subcellular locationi
Nucleus
- nucleoplasm Source: GO_Central
- nucleus Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 55796 |
OpenTargetsi | ENSG00000076770 |
PharmGKBi | PA134992936 |
Miscellaneous databases
Pharosi | Q9NUK0, Tbio |
Polymorphism and mutation databases
BioMutai | MBNL3 |
DMDMi | 26396510 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089180 | 1 – 354 | Muscleblind-like protein 3Add BLAST | 354 |
Proteomic databases
EPDi | Q9NUK0 |
jPOSTi | Q9NUK0 |
MassIVEi | Q9NUK0 |
MaxQBi | Q9NUK0 |
PaxDbi | Q9NUK0 |
PeptideAtlasi | Q9NUK0 |
PRIDEi | Q9NUK0 |
ProteomicsDBi | 70598 82679 [Q9NUK0-1] 82680 [Q9NUK0-2] 82681 [Q9NUK0-3] 82682 [Q9NUK0-4] |
PTM databases
iPTMneti | Q9NUK0 |
PhosphoSitePlusi | Q9NUK0 |
Expressioni
Tissue specificityi
Highly expressed in the placenta.1 Publication
Gene expression databases
Bgeei | ENSG00000076770, Expressed in placenta and 197 other tissues |
ExpressionAtlasi | Q9NUK0, baseline and differential |
Genevisiblei | Q9NUK0, HS |
Organism-specific databases
HPAi | ENSG00000076770, Tissue enhanced (placenta) |
Interactioni
Binary interactionsi
Hide detailsQ9NUK0
With | #Exp. | IntAct |
---|---|---|
DAB1 [O75553] | 3 | EBI-6661142,EBI-7875264 |
Isoform 3 [Q9NUK0-3]
With | #Exp. | IntAct |
---|---|---|
PRR20D [P86480] | 3 | EBI-12049233,EBI-12754095 |
Protein-protein interaction databases
BioGRIDi | 120909, 12 interactors |
IntActi | Q9NUK0, 5 interactors |
STRINGi | 9606.ENSP00000359890 |
Miscellaneous databases
RNActi | Q9NUK0, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 118 – 169 | Pro-richAdd BLAST | 52 |
Sequence similaritiesi
Belongs to the muscleblind family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 14 – 42 | C3H1-type 1PROSITE-ProRule annotationAdd BLAST | 29 | |
Zinc fingeri | 48 – 74 | C3H1-type 2PROSITE-ProRule annotationAdd BLAST | 27 | |
Zinc fingeri | 174 – 202 | C3H1-type 3PROSITE-ProRule annotationAdd BLAST | 29 | |
Zinc fingeri | 210 – 236 | C3H1-type 4PROSITE-ProRule annotationAdd BLAST | 27 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG2494, Eukaryota |
GeneTreei | ENSGT00950000182897 |
HOGENOMi | CLU_053536_0_0_1 |
InParanoidi | Q9NUK0 |
OMAi | DIECKYA |
OrthoDBi | 1543798at2759 |
PhylomeDBi | Q9NUK0 |
TreeFami | TF321931 |
Family and domain databases
InterProi | View protein in InterPro IPR000571, Znf_CCCH |
Pfami | View protein in Pfam PF00642, zf-CCCH, 1 hit |
SMARTi | View protein in SMART SM00356, ZnF_C3H1, 4 hits |
PROSITEi | View protein in PROSITE PS50103, ZF_C3H1, 4 hits |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NUK0-1) [UniParc]FASTAAdd to basket
Also known as: HCHCR-G, G
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTAVNVALIR DTKWLTLEVC REFQRGTCSR ADADCKFAHP PRVCHVENGR
60 70 80 90 100
VVACFDSLKG RCTRENCKYL HPPPHLKTQL EINGRNNLIQ QKTAAAMFAQ
110 120 130 140 150
QMQLMLQNAQ MSSLGSFPMT PSIPANPPMA FNPYIPHPGM GLVPAELVPN
160 170 180 190 200
TPVLIPGNPP LAMPGAVGPK LMRSDKLEVC REFQRGNCTR GENDCRYAHP
210 220 230 240 250
TDASMIEASD NTVTICMDYI KGRCSREKCK YFHPPAHLQA RLKAAHHQMN
260 270 280 290 300
HSAASAMALQ PGTLQLIPKR SALEKPNGAT PVFNPTVFHC QQALTNLQLP
310 320 330 340 350
QPAFIPAGPI LCMAPASNIV PMMHGATPTT VSAATTPATS VPFAAPTTGN
QLKF
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB1AKI6 | B1AKI6_HUMAN | Muscleblind-like protein 3 | MBNL3 | 342 | Annotation score: | ||
B1AKI5 | B1AKI5_HUMAN | Muscleblind-like protein 3 | MBNL3 | 223 | Annotation score: | ||
B1AKI4 | B1AKI4_HUMAN | Muscleblind-like protein 3 | MBNL3 | 242 | Annotation score: | ||
B1AKI2 | B1AKI2_HUMAN | Muscleblind-like protein 3 | MBNL3 | 150 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 113 | S → P in AAQ75759 (Ref. 3) Curated | 1 | |
Sequence conflicti | 187 | N → I in AAQ75759 (Ref. 3) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044309 | 1 – 96 | Missing in isoform 5. 2 PublicationsAdd BLAST | 96 | |
Alternative sequenceiVSP_006431 | 1 – 50 | Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 50 | |
Alternative sequenceiVSP_006432 | 51 – 57 | VVACFDS → MERASKN in isoform 3 and isoform 4. 2 Publications | 7 | |
Alternative sequenceiVSP_006433 | 258 – 292 | Missing in isoform 2. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_015935 | 308 – 319 | Missing in isoform 4. 1 PublicationAdd BLAST | 12 | |
Alternative sequenceiVSP_006434 | 352 – 354 | LKF → IPQLSIDELNSSMFVSQM in isoform 2. 1 Publication | 3 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000370839; ENSP00000359876; ENSG00000076770 [Q9NUK0-2] ENST00000370844; ENSP00000359881; ENSG00000076770 [Q9NUK0-5] ENST00000370849; ENSP00000359886; ENSG00000076770 [Q9NUK0-3] ENST00000370853; ENSP00000359890; ENSG00000076770 [Q9NUK0-1] ENST00000394311; ENSP00000377848; ENSG00000076770 [Q9NUK0-5] ENST00000538204; ENSP00000439618; ENSG00000076770 [Q9NUK0-4] |
GeneIDi | 55796 |
KEGGi | hsa:55796 |
UCSCi | uc004ewt.4, human [Q9NUK0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q9NUK0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120909, 12 interactors |
IntActi | Q9NUK0, 5 interactors |
STRINGi | 9606.ENSP00000359890 |
PTM databases
iPTMneti | Q9NUK0 |
PhosphoSitePlusi | Q9NUK0 |
Polymorphism and mutation databases
BioMutai | MBNL3 |
DMDMi | 26396510 |
Proteomic databases
EPDi | Q9NUK0 |
jPOSTi | Q9NUK0 |
MassIVEi | Q9NUK0 |
MaxQBi | Q9NUK0 |
PaxDbi | Q9NUK0 |
PeptideAtlasi | Q9NUK0 |
PRIDEi | Q9NUK0 |
ProteomicsDBi | 70598 82679 [Q9NUK0-1] 82680 [Q9NUK0-2] 82681 [Q9NUK0-3] 82682 [Q9NUK0-4] |
Protocols and materials databases
Antibodypediai | 446, 141 antibodies |
DNASUi | 55796 |
Genome annotation databases
Ensembli | ENST00000370839; ENSP00000359876; ENSG00000076770 [Q9NUK0-2] ENST00000370844; ENSP00000359881; ENSG00000076770 [Q9NUK0-5] ENST00000370849; ENSP00000359886; ENSG00000076770 [Q9NUK0-3] ENST00000370853; ENSP00000359890; ENSG00000076770 [Q9NUK0-1] ENST00000394311; ENSP00000377848; ENSG00000076770 [Q9NUK0-5] ENST00000538204; ENSP00000439618; ENSG00000076770 [Q9NUK0-4] |
GeneIDi | 55796 |
KEGGi | hsa:55796 |
UCSCi | uc004ewt.4, human [Q9NUK0-1] |
Organism-specific databases
CTDi | 55796 |
DisGeNETi | 55796 |
EuPathDBi | HostDB:ENSG00000076770.14 |
GeneCardsi | MBNL3 |
HGNCi | HGNC:20564, MBNL3 |
HPAi | ENSG00000076770, Tissue enhanced (placenta) |
MIMi | 300413, gene |
neXtProti | NX_Q9NUK0 |
OpenTargetsi | ENSG00000076770 |
PharmGKBi | PA134992936 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2494, Eukaryota |
GeneTreei | ENSGT00950000182897 |
HOGENOMi | CLU_053536_0_0_1 |
InParanoidi | Q9NUK0 |
OMAi | DIECKYA |
OrthoDBi | 1543798at2759 |
PhylomeDBi | Q9NUK0 |
TreeFami | TF321931 |
Enzyme and pathway databases
PathwayCommonsi | Q9NUK0 |
Miscellaneous databases
BioGRID-ORCSi | 55796, 5 hits in 474 CRISPR screens |
ChiTaRSi | MBNL3, human |
GeneWikii | MBNL3 |
GenomeRNAii | 55796 |
Pharosi | Q9NUK0, Tbio |
PROi | PR:Q9NUK0 |
RNActi | Q9NUK0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000076770, Expressed in placenta and 197 other tissues |
ExpressionAtlasi | Q9NUK0, baseline and differential |
Genevisiblei | Q9NUK0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000571, Znf_CCCH |
Pfami | View protein in Pfam PF00642, zf-CCCH, 1 hit |
SMARTi | View protein in SMART SM00356, ZnF_C3H1, 4 hits |
PROSITEi | View protein in PROSITE PS50103, ZF_C3H1, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MBNL3_HUMAN | |
Accessioni | Q9NUK0Primary (citable) accession number: Q9NUK0 Secondary accession number(s): Q5JXN8 Q9UF37 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 16, 2001 |
Last sequence update: | December 6, 2002 | |
Last modified: | December 2, 2020 | |
This is version 168 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM