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Q9NUK0

- MBNL3_HUMAN

UniProt

Q9NUK0 - MBNL3_HUMAN

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Protein

Muscleblind-like protein 3

Gene

MBNL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri14 – 4229C3H1-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri48 – 7427C3H1-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri174 – 20229C3H1-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri210 – 23627C3H1-type 4PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. mRNA processing Source: UniProtKB-KW
  2. multicellular organismal development Source: UniProtKB-KW
  3. negative regulation of myoblast differentiation Source: Ensembl
  4. regulation of RNA splicing Source: UniProtKB
  5. RNA splicing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

Metal-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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:20564. MBNL3.

Subcellular locationi

Nucleus 1 Publication. Cytoplasm 1 Publication
Note: Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134992936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 354354Muscleblind-like protein 3PRO_0000089180Add
BLAST

Proteomic databases

MaxQBiQ9NUK0.
PaxDbiQ9NUK0.
PRIDEiQ9NUK0.

PTM databases

PhosphoSiteiQ9NUK0.

Expressioni

Tissue specificityi

Highly expressed in the placenta.1 Publication

Gene expression databases

BgeeiQ9NUK0.
ExpressionAtlasiQ9NUK0. baseline and differential.
GenevestigatoriQ9NUK0.

Organism-specific databases

HPAiHPA001584.

Interactioni

Protein-protein interaction databases

BioGridi120909. 3 interactions.
IntActiQ9NUK0. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9NUK0.
SMRiQ9NUK0. Positions 12-87, 175-240.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi118 – 16952Pro-richAdd
BLAST

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri14 – 4229C3H1-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri48 – 7427C3H1-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri174 – 20229C3H1-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri210 – 23627C3H1-type 4PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG241142.
GeneTreeiENSGT00390000001586.
HOVERGENiHBG006999.
InParanoidiQ9NUK0.
KOiK14943.
OMAiPKPMRSD.
PhylomeDBiQ9NUK0.
TreeFamiTF321931.

Family and domain databases

Gene3Di4.10.1000.10. 1 hit.
InterProiIPR000571. Znf_CCCH.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti113 – 1131S → P in AAQ75759. 1 PublicationCurated
Sequence conflicti187 – 1871N → I in AAQ75759. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9696Missing in isoform 5. 2 PublicationsVSP_044309Add
BLAST
Alternative sequencei1 – 5050Missing in isoform 3 and isoform 4. 2 PublicationsVSP_006431Add
BLAST
Alternative sequencei51 – 577VVACFDS → MERASKN in isoform 3 and isoform 4. 2 PublicationsVSP_006432
Alternative sequencei258 – 29235Missing in isoform 2. 1 PublicationVSP_006433Add
BLAST
Alternative sequencei308 – 31912Missing in isoform 4. 1 PublicationVSP_015935Add
BLAST
Alternative sequencei352 – 3543LKF → IPQLSIDELNSSMFVSQM in isoform 2. 1 PublicationVSP_006434

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005262434.2. [Q9NUK0-1]
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.3. human. [Q9NUK0-3]
uc004ewu.4. human. [Q9NUK0-2]
uc004ewv.4. human. [Q9NUK0-1]
uc004ewx.2. human. [Q9NUK0-4]

Polymorphism databases

DMDMi26396510.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14633.1. [Q9NUK0-1 ]
CCDS14634.1. [Q9NUK0-2 ]
CCDS55492.1. [Q9NUK0-5 ]
CCDS55493.1. [Q9NUK0-4 ]
CCDS55494.1. [Q9NUK0-3 ]
PIRi T43463.
RefSeqi NP_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_005262434.2. [Q9NUK0-1 ]
UniGenei Hs.105134.
Hs.596347.

3D structure databases

ProteinModelPortali Q9NUK0.
SMRi Q9NUK0. Positions 12-87, 175-240.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120909. 3 interactions.
IntActi Q9NUK0. 1 interaction.

PTM databases

PhosphoSitei Q9NUK0.

Polymorphism databases

DMDMi 26396510.

Proteomic databases

MaxQBi Q9NUK0.
PaxDbi Q9NUK0.
PRIDEi Q9NUK0.

Protocols and materials databases

DNASUi 55796.
Structural Biology Knowledgebase Search...

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.3. human. [Q9NUK0-3 ]
uc004ewu.4. human. [Q9NUK0-2 ]
uc004ewv.4. human. [Q9NUK0-1 ]
uc004ewx.2. human. [Q9NUK0-4 ]

Organism-specific databases

CTDi 55796.
GeneCardsi GC0XM131506.
HGNCi HGNC:20564. MBNL3.
HPAi HPA001584.
MIMi 300413. gene.
neXtProti NX_Q9NUK0.
PharmGKBi PA134992936.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241142.
GeneTreei ENSGT00390000001586.
HOVERGENi HBG006999.
InParanoidi Q9NUK0.
KOi K14943.
OMAi PKPMRSD.
PhylomeDBi Q9NUK0.
TreeFami TF321931.

Miscellaneous databases

GeneWikii MBNL3.
GenomeRNAii 55796.
NextBioi 60923.
PROi Q9NUK0.
SOURCEi Search...

Gene expression databases

Bgeei Q9NUK0.
ExpressionAtlasi Q9NUK0. baseline and differential.
Genevestigatori Q9NUK0.

Family and domain databases

Gene3Di 4.10.1000.10. 1 hit.
InterProi IPR000571. Znf_CCCH.
[Graphical view ]
SMARTi SM00356. ZnF_C3H1. 4 hits.
[Graphical view ]
PROSITEi PS50103. ZF_C3H1. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: FUNCTION.

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: October 29, 2014
This is version 120 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

External Data

Dasty 3