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Protein

Muscleblind-like protein 3

Gene

MBNL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri14 – 42C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri48 – 74C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri174 – 202C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri210 – 236C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000076770-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Muscleblind-like protein 3
Alternative name(s):
Cys3His CCG1-required protein
Muscleblind-like X-linked protein
Protein HCHCR
Gene namesi
Name:MBNL3
Synonyms:CHCR, MBLX39, MBXL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:20564. MBNL3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000076770.
PharmGKBiPA134992936.

Polymorphism and mutation databases

BioMutaiMBNL3.
DMDMi26396510.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000891801 – 354Muscleblind-like protein 3Add BLAST354

Proteomic databases

EPDiQ9NUK0.
MaxQBiQ9NUK0.
PaxDbiQ9NUK0.
PeptideAtlasiQ9NUK0.
PRIDEiQ9NUK0.

PTM databases

iPTMnetiQ9NUK0.
PhosphoSitePlusiQ9NUK0.

Expressioni

Tissue specificityi

Highly expressed in the placenta.1 Publication

Gene expression databases

BgeeiENSG00000076770.
ExpressionAtlasiQ9NUK0. baseline and differential.
GenevisibleiQ9NUK0. HS.

Organism-specific databases

HPAiHPA001584.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DAB1O755533EBI-6661142,EBI-7875264

Protein-protein interaction databases

BioGridi120909. 7 interactors.
IntActiQ9NUK0. 3 interactors.
STRINGi9606.ENSP00000359890.

Structurei

3D structure databases

ProteinModelPortaliQ9NUK0.
SMRiQ9NUK0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi118 – 169Pro-richAdd BLAST52

Sequence similaritiesi

Belongs to the muscleblind family.Curated
Contains 4 C3H1-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri14 – 42C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri48 – 74C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri174 – 202C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri210 – 236C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2494. Eukaryota.
ENOG410ZNRC. LUCA.
GeneTreeiENSGT00390000001586.
HOGENOMiHOG000230928.
HOVERGENiHBG006999.
InParanoidiQ9NUK0.
KOiK14943.
OMAiANPTMAF.
OrthoDBiEOG091G0DL0.
PhylomeDBiQ9NUK0.
TreeFamiTF321931.

Family and domain databases

Gene3Di4.10.1000.10. 2 hits.
InterProiIPR000571. Znf_CCCH.
[Graphical view]
PfamiPF00642. zf-CCCH. 1 hit.
[Graphical view]
SMARTiSM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEiPS50103. ZF_C3H1. 4 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NUK0-1) [UniParc]FASTAAdd to basket
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.

« Hide

        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
Length:354
Mass (Da):38,532
Last modified:December 6, 2002 - v2
Checksum:i145E1AF8CB3BEE27
GO
Isoform 2 (identifier: Q9NUK0-2) [UniParc]FASTAAdd to basket
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

Show »
Length:334
Mass (Da):36,380
Checksum:i9FB835135F474DCE
GO
Isoform 3 (identifier: Q9NUK0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     51-57: VVACFDS → MERASKN

Show »
Length:304
Mass (Da):32,942
Checksum:iACB92E93B3E5C097
GO
Isoform 4 (identifier: Q9NUK0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     51-57: VVACFDS → MERASKN
     308-319: Missing.

Show »
Length:292
Mass (Da):31,774
Checksum:iFB239634C3247296
GO
Isoform 5 (identifier: Q9NUK0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: Missing.

Show »
Length:258
Mass (Da):27,687
Checksum:i1DBE7A26DE8F5A4B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti113S → P in AAQ75759 (Ref. 3) Curated1
Sequence conflicti187N → I in AAQ75759 (Ref. 3) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0443091 – 96Missing in isoform 5. 2 PublicationsAdd BLAST96
Alternative sequenceiVSP_0064311 – 50Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST50
Alternative sequenceiVSP_00643251 – 57VVACFDS → MERASKN in isoform 3 and isoform 4. 2 Publications7
Alternative sequenceiVSP_006433258 – 292Missing in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_015935308 – 319Missing in isoform 4. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_006434352 – 354LKF → IPQLSIDELNSSMFVSQM in isoform 2. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14633.1. [Q9NUK0-1]
CCDS14634.1. [Q9NUK0-2]
CCDS55492.1. [Q9NUK0-5]
CCDS55493.1. [Q9NUK0-4]
CCDS55494.1. [Q9NUK0-3]
PIRiT43463.
RefSeqiNP_001164172.1. NM_001170701.1. [Q9NUK0-3]
NP_001164173.1. NM_001170702.1. [Q9NUK0-4]
NP_001164174.1. NM_001170703.1. [Q9NUK0-5]
NP_001164175.1. NM_001170704.1. [Q9NUK0-5]
NP_060858.2. NM_018388.3. [Q9NUK0-1]
NP_597846.1. NM_133486.2. [Q9NUK0-2]
XP_005262491.1. XM_005262434.3. [Q9NUK0-1]
XP_016885124.1. XM_017029635.1. [Q9NUK0-1]
XP_016885125.1. XM_017029636.1. [Q9NUK0-1]
XP_016885128.1. XM_017029639.1. [Q9NUK0-5]
UniGeneiHs.105134.
Hs.596347.

Genome annotation databases

EnsembliENST00000370839; 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]
GeneIDi55796.
KEGGihsa:55796.
UCSCiuc004ewt.4. human. [Q9NUK0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14633.1. [Q9NUK0-1]
CCDS14634.1. [Q9NUK0-2]
CCDS55492.1. [Q9NUK0-5]
CCDS55493.1. [Q9NUK0-4]
CCDS55494.1. [Q9NUK0-3]
PIRiT43463.
RefSeqiNP_001164172.1. NM_001170701.1. [Q9NUK0-3]
NP_001164173.1. NM_001170702.1. [Q9NUK0-4]
NP_001164174.1. NM_001170703.1. [Q9NUK0-5]
NP_001164175.1. NM_001170704.1. [Q9NUK0-5]
NP_060858.2. NM_018388.3. [Q9NUK0-1]
NP_597846.1. NM_133486.2. [Q9NUK0-2]
XP_005262491.1. XM_005262434.3. [Q9NUK0-1]
XP_016885124.1. XM_017029635.1. [Q9NUK0-1]
XP_016885125.1. XM_017029636.1. [Q9NUK0-1]
XP_016885128.1. XM_017029639.1. [Q9NUK0-5]
UniGeneiHs.105134.
Hs.596347.

3D structure databases

ProteinModelPortaliQ9NUK0.
SMRiQ9NUK0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120909. 7 interactors.
IntActiQ9NUK0. 3 interactors.
STRINGi9606.ENSP00000359890.

PTM databases

iPTMnetiQ9NUK0.
PhosphoSitePlusiQ9NUK0.

Polymorphism and mutation databases

BioMutaiMBNL3.
DMDMi26396510.

Proteomic databases

EPDiQ9NUK0.
MaxQBiQ9NUK0.
PaxDbiQ9NUK0.
PeptideAtlasiQ9NUK0.
PRIDEiQ9NUK0.

Protocols and materials databases

DNASUi55796.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370839; 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]
GeneIDi55796.
KEGGihsa:55796.
UCSCiuc004ewt.4. human. [Q9NUK0-1]

Organism-specific databases

CTDi55796.
GeneCardsiMBNL3.
HGNCiHGNC:20564. MBNL3.
HPAiHPA001584.
MIMi300413. gene.
neXtProtiNX_Q9NUK0.
OpenTargetsiENSG00000076770.
PharmGKBiPA134992936.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2494. Eukaryota.
ENOG410ZNRC. LUCA.
GeneTreeiENSGT00390000001586.
HOGENOMiHOG000230928.
HOVERGENiHBG006999.
InParanoidiQ9NUK0.
KOiK14943.
OMAiANPTMAF.
OrthoDBiEOG091G0DL0.
PhylomeDBiQ9NUK0.
TreeFamiTF321931.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000076770-MONOMER.

Miscellaneous databases

GeneWikiiMBNL3.
GenomeRNAii55796.
PROiQ9NUK0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000076770.
ExpressionAtlasiQ9NUK0. baseline and differential.
GenevisibleiQ9NUK0. HS.

Family and domain databases

Gene3Di4.10.1000.10. 2 hits.
InterProiIPR000571. Znf_CCCH.
[Graphical view]
PfamiPF00642. zf-CCCH. 1 hit.
[Graphical view]
SMARTiSM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEiPS50103. ZF_C3H1. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMBNL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NUK0
Secondary accession number(s): Q5JXN8
, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9UF37
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: December 6, 2002
Last modified: November 30, 2016
This is version 139 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.