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Protein

Muscleblind-like protein 3

Gene

MBNL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

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

EuPathDBiHostDB:ENSG00000076770.14
HGNCiHGNC:20564 MBNL3
MIMi300413 gene
neXtProtiNX_Q9NUK0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi55796
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

BioGridi1209097 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

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
OMAiMRSDKLE
OrthoDBiEOG091G0DL0
PhylomeDBiQ9NUK0
TreeFamiTF321931

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

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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiMBNL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NUK0
Secondary accession number(s): Q5JXN8
, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9UF37
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: December 6, 2002
Last modified: March 28, 2018
This is version 150 of the entry and version 2 of the sequence. See 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