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Q9NUK0 (MBNL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Muscleblind-like protein 3
Alternative name(s):
Cys3His CCG1-required protein
Muscleblind-like X-linked protein
Protein HCHCR
Gene names
Name:MBNL3
Synonyms:CHCR, MBLX39, MBXL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length354 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 354354Muscleblind-like protein 3
PRO_0000089180

Regions

Zinc finger14 – 4229C3H1-type 1
Zinc finger48 – 7427C3H1-type 2
Zinc finger174 – 20229C3H1-type 3
Zinc finger210 – 23627C3H1-type 4
Compositional bias118 – 16952Pro-rich

Natural variations

Alternative sequence1 – 9696Missing in isoform 5.
VSP_044309
Alternative sequence1 – 5050Missing in isoform 3 and isoform 4.
VSP_006431
Alternative sequence51 – 577VVACFDS → MERASKN in isoform 3 and isoform 4.
VSP_006432
Alternative sequence258 – 29235Missing in isoform 2.
VSP_006433
Alternative sequence308 – 31912Missing in isoform 4.
VSP_015935
Alternative sequence352 – 3543LKF → IPQLSIDELNSSMFVSQM in isoform 2.
VSP_006434

Experimental info

Sequence conflict1131S → P in AAQ75759. Ref.3
Sequence conflict1871N → I in AAQ75759. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (HCHCR-G) (G) [UniParc].

Last modified December 6, 2002. Version 2.
Checksum: 145E1AF8CB3BEE27

FASTA35438,532
        10         20         30         40         50         60 
MTAVNVALIR DTKWLTLEVC REFQRGTCSR ADADCKFAHP PRVCHVENGR VVACFDSLKG 

        70         80         90        100        110        120 
RCTRENCKYL HPPPHLKTQL EINGRNNLIQ QKTAAAMFAQ QMQLMLQNAQ MSSLGSFPMT 

       130        140        150        160        170        180 
PSIPANPPMA FNPYIPHPGM GLVPAELVPN TPVLIPGNPP LAMPGAVGPK LMRSDKLEVC 

       190        200        210        220        230        240 
REFQRGNCTR GENDCRYAHP TDASMIEASD NTVTICMDYI KGRCSREKCK YFHPPAHLQA 

       250        260        270        280        290        300 
RLKAAHHQMN HSAASAMALQ PGTLQLIPKR SALEKPNGAT PVFNPTVFHC QQALTNLQLP 

       310        320        330        340        350 
QPAFIPAGPI LCMAPASNIV PMMHGATPTT VSAATTPATS VPFAAPTTGN QLKF 

« Hide

Isoform 2 (HCHCR-R) (R) [UniParc].

Checksum: 9FB835135F474DCE
Show »

FASTA33436,380
Isoform 3 [UniParc].

Checksum: ACB92E93B3E5C097
Show »

FASTA30432,942
Isoform 4 [UniParc].

Checksum: FB239634C3247296
Show »

FASTA29231,774
Isoform 5 [UniParc].

Checksum: 1DBE7A26DE8F5A4B
Show »

FASTA25827,687

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., 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.
PIRT43463.
RefSeqNP_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.
XP_005262491.1. XM_005262434.2.
UniGeneHs.105134.
Hs.596347.

3D structure databases

ProteinModelPortalQ9NUK0.
SMRQ9NUK0. Positions 12-87, 175-240.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120909. 2 interactions.
IntActQ9NUK0. 1 interaction.

PTM databases

PhosphoSiteQ9NUK0.

Polymorphism databases

DMDM26396510.

Proteomic databases

PaxDbQ9NUK0.
PRIDEQ9NUK0.

Protocols and materials databases

DNASU55796.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370839; 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]
GeneID55796.
KEGGhsa:55796.
UCSCuc004ewt.3. human. [Q9NUK0-3]
uc004ewu.4. human. [Q9NUK0-2]
uc004ewv.4. human. [Q9NUK0-1]
uc004ewx.2. human. [Q9NUK0-4]

Organism-specific databases

CTD55796.
GeneCardsGC0XM131506.
HGNCHGNC:20564. MBNL3.
HPAHPA001584.
MIM300413. gene.
neXtProtNX_Q9NUK0.
PharmGKBPA134992936.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241142.
HOVERGENHBG006999.
InParanoidQ9NUK0.
KOK14943.
OMAPSVFHYQ.
PhylomeDBQ9NUK0.
TreeFamTF321931.

Gene expression databases

ArrayExpressQ9NUK0.
BgeeQ9NUK0.
GenevestigatorQ9NUK0.

Family and domain databases

Gene3D4.10.1000.10. 1 hit.
InterProIPR000571. Znf_CCCH.
[Graphical view]
SMARTSM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEPS50103. ZF_C3H1. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMBNL3.
GenomeRNAi55796.
NextBio60923.
PROQ9NUK0.
SOURCESearch...

Entry information

Entry nameMBNL3_HUMAN
AccessionPrimary (citable) accession number: Q9NUK0
Secondary accession number(s): Q5JXN8 expand/collapse secondary AC list , Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9UF37
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: December 6, 2002
Last modified: April 16, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM