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UniProtKB - Q9NR56 (MBNL1_HUMAN)

Protein

Muscleblind-like protein 1

Gene

MBNL1

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. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.5 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri179 – 207C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri215 – 241C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Muscleblind-like protein 1
Alternative name(s):
Triplet-expansion RNA-binding protein
Gene namesi
Name:MBNL1
Synonyms:EXP, KIAA0428, MBNL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000152601.17
HGNCiHGNC:6923 MBNL1
MIMi606516 gene
neXtProtiNX_Q9NR56

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

Involvement in diseasei

Dystrophia myotonica 1 (DM1)2 Publications
The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.
Disease descriptionA muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.
See also OMIM:160900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07650832T → M in DM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs185894411Ensembl.1
Natural variantiVAR_076509171 – 173Missing in DM1; unknown pathological significance. 1 Publication3
Natural variantiVAR_076510338P → S in DM1; unknown pathological significance. 1 Publication1
Corneal dystrophy, Fuchs endothelial, 3 (FECD3)1 Publication
The protein represented in this entry is involved in disease pathogenesis. In corneal endothelial cells from patients, MBNL1 is sequestered by TCF4 RNAs containing pathogenic CUG triplet repeat expansions. This results in missplicing of essential MBNL1-regulated mRNAs.1 Publication
Disease descriptionA late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
See also OMIM:613267

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNETi4154
MIMi160900 phenotype
613267 phenotype
OpenTargetsiENSG00000152601
PharmGKBiPA30666

Chemistry databases

ChEMBLiCHEMBL1293317

Polymorphism and mutation databases

BioMutaiMBNL1
DMDMi17369313

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000891781 – 388Muscleblind-like protein 1Add BLAST388

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NR56
MaxQBiQ9NR56
PaxDbiQ9NR56
PeptideAtlasiQ9NR56
PRIDEiQ9NR56
ProteomicsDBi82279
82280 [Q9NR56-2]
82281 [Q9NR56-3]
82282 [Q9NR56-4]
82283 [Q9NR56-5]
82284 [Q9NR56-6]

PTM databases

iPTMnetiQ9NR56
PhosphoSitePlusiQ9NR56

Expressioni

Tissue specificityi

Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.2 Publications

Gene expression databases

BgeeiENSG00000152601 Expressed in 247 organ(s), highest expression level in blood
CleanExiHS_MBNL1
ExpressionAtlasiQ9NR56 baseline and differential
GenevisibleiQ9NR56 HS

Organism-specific databases

HPAiCAB016398
HPA035098

Interactioni

Subunit structurei

Interacts with DDX1 and YBX1. Interacts with HNRNPH1; the interaction in RNA-independent.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DAB1O755533EBI-2805004,EBI-7875264

Protein-protein interaction databases

BioGridi110324, 34 interactors
IntActiQ9NR56, 19 interactors
MINTiQ9NR56
STRINGi9606.ENSP00000282486

Structurei

Secondary structure

1388
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9NR56
SMRiQ9NR56
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NR56

Family & Domainsi

Sequence similaritiesi

Belongs to the muscleblind family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri179 – 207C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri215 – 241C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ9NR56
KOiK14943
PhylomeDBiQ9NR56
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 (7+)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NR56-1) [UniParc]FASTAAdd to basket
Also known as: EXP42

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
MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV 
        60         70         80         90        100
IACFDSLKGR CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM 
       110        120        130        140        150
QLANAMMPGA PLQPVPMFSV APSLATNASA AAFNPYLGPV SPSLVPAEIL 
       160        170        180        190        200
PTAPMLVTGN PGVPVPAAAA AAAQKLMRTD RLEVCREYQR GNCNRGENDC 
       210        220        230        240        250
RFAHPADSTM IDTNDNTVTV CMDYIKGRCS REKCKYFHPP AHLQAKIKAA 
       260        270        280        290        300
QYQVNQAAAA QAAATAAAMT QSAVKSLKRP LEATFDLGIP QAVLPPLPKR 
       310        320        330        340        350
PALEKTNGAT AVFNTGIFQY QQALANMQLQ QHTAFLPPVP MVHGATPATV 
       360        370        380 
SAATTSATSV PFAATATANQ IPIISAEHLT SHKYVTQM
Length:388
Mass (Da):41,817
Last modified:November 16, 2001 - v2
Checksum:i118D256A81A86695
GO
Isoform 2 (identifier: Q9NR56-2) [UniParc]FASTAAdd to basket
Also known as: EXP40

The sequence of this isoform differs from the canonical sequence as follows:
     270-287: Missing.

Show »
Length:370
Mass (Da):39,831
Checksum:iABF12CBCCDE1FF5C
GO
Isoform 3 (identifier: Q9NR56-3) [UniParc]FASTAAdd to basket
Also known as: EXP35

The sequence of this isoform differs from the canonical sequence as follows:
     116-183: Missing.
     270-287: Missing.

Show »
Length:302
Mass (Da):33,050
Checksum:i5D1D1AE2D6219425
GO
Isoform 4 (identifier: Q9NR56-4) [UniParc]FASTAAdd to basket
Also known as: EXP36

The sequence of this isoform differs from the canonical sequence as follows:
     116-183: Missing.
     270-287: Missing.
     338-338: P → PGSILCMTPATSV

Show »
Length:314
Mass (Da):34,211
Checksum:i9535C699B3BBE210
GO
Isoform 5 (identifier: Q9NR56-5) [UniParc]FASTAAdd to basket
Also known as: EXP41

The sequence of this isoform differs from the canonical sequence as follows:
     270-287: Missing.
     338-338: P → PGSILCMTPATSV

Show »
Length:382
Mass (Da):40,992
Checksum:iBE7176F8F2928ACF
GO
Isoform 6 (identifier: Q9NR56-6) [UniParc]FASTAAdd to basket
Also known as: EXP41S

The sequence of this isoform differs from the canonical sequence as follows:
     270-287: Missing.
     338-338: P → PGSILCMTPATSV
     339-388: VPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM → DTHNICRTSD

Show »
Length:342
Mass (Da):37,074
Checksum:i179E9FA2F1A02FC4
GO
Isoform 7 (identifier: Q9NR56-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-370: TQSAVKSLKR...PFAATATANQ → FPWCTVLRQP...TSCPAAAGKM

Show »
Length:340
Mass (Da):36,992
Checksum:i9A605A3824FDA8FA
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q86VM6Q86VM6_HUMAN
MBNL1 protein
MBNL1 hCG_28028
343Annotation score:
C9JP00C9JP00_HUMAN
Muscleblind-like protein 1
MBNL1
348Annotation score:
A0A0A0MQX8A0A0A0MQX8_HUMAN
Muscleblind-like protein 1
MBNL1
400Annotation score:
H7C4Y1H7C4Y1_HUMAN
Muscleblind-like protein 1
MBNL1
210Annotation score:
C9JCX1C9JCX1_HUMAN
Muscleblind-like protein 1
MBNL1
155Annotation score:
H7C4T5H7C4T5_HUMAN
Muscleblind-like protein 1
MBNL1
329Annotation score:
C9J7P7C9J7P7_HUMAN
Muscleblind-like protein 1
MBNL1
90Annotation score:
C9J4T8C9J4T8_HUMAN
Muscleblind-like protein 1
MBNL1
58Annotation score:

Sequence cautioni

The sequence BAA24858 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 7 (identifier: Q9NR56-7)
Sequence conflicti317A → AA in AAP30726 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07650832T → M in DM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs185894411Ensembl.1
Natural variantiVAR_076509171 – 173Missing in DM1; unknown pathological significance. 1 Publication3
Natural variantiVAR_076510338P → S in DM1; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006429116 – 183Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_044903270 – 370TQSAV…ATANQ → FPWCTVLRQPLCPQQQHLPQ VFPSLQQPQPTSPILDASTL LGATSCPAAAGKM in isoform 7. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_006430270 – 287Missing in isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6. 6 PublicationsAdd BLAST18
Alternative sequenceiVSP_043799338P → PGSILCMTPATSV in isoform 4, isoform 5 and isoform 6. 5 Publications1
Alternative sequenceiVSP_043800339 – 388VPMVH…YVTQM → DTHNICRTSD in isoform 6. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13829 mRNA Translation: CAA74155.1
AB007888 mRNA Translation: BAA24858.2 Different initiation.
AF255334 mRNA Translation: AAF76138.1
AF395876 mRNA Translation: AAK82889.1
AF401998 mRNA Translation: AAK94915.1
AJ308400 mRNA Translation: CAC83727.1
AF497718 mRNA Translation: AAP30726.1
AF497719 mRNA Translation: AAP30727.1
AC026347 Genomic DNA No translation available.
AC106722 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78775.1
BC043493 mRNA Translation: AAH43493.1
CCDSiCCDS3163.1 [Q9NR56-5]
CCDS3164.1 [Q9NR56-2]
CCDS3165.1 [Q9NR56-1]
CCDS3166.1 [Q9NR56-4]
CCDS3167.1 [Q9NR56-7]
CCDS3168.1 [Q9NR56-6]
CCDS54656.1 [Q9NR56-3]
RefSeqiNP_001300986.1, NM_001314057.1
NP_066368.2, NM_021038.4 [Q9NR56-5]
NP_997175.1, NM_207292.2 [Q9NR56-2]
NP_997176.1, NM_207293.1 [Q9NR56-1]
NP_997177.1, NM_207294.1 [Q9NR56-3]
NP_997178.1, NM_207295.1 [Q9NR56-4]
NP_997179.1, NM_207296.1 [Q9NR56-7]
NP_997180.1, NM_207297.1 [Q9NR56-6]
XP_005247523.1, XM_005247466.4 [Q9NR56-1]
XP_005247528.1, XM_005247471.4 [Q9NR56-6]
XP_011511149.1, XM_011512847.2 [Q9NR56-4]
XP_011511151.1, XM_011512849.2 [Q9NR56-3]
XP_016861914.1, XM_017006425.1 [Q9NR56-1]
XP_016861915.1, XM_017006426.1 [Q9NR56-1]
XP_016861916.1, XM_017006427.1 [Q9NR56-5]
XP_016861917.1, XM_017006428.1 [Q9NR56-5]
XP_016861918.1, XM_017006429.1 [Q9NR56-5]
XP_016861919.1, XM_017006430.1 [Q9NR56-2]
XP_016861920.1, XM_017006431.1 [Q9NR56-2]
XP_016861925.1, XM_017006436.1 [Q9NR56-6]
UniGeneiHs.201858
Hs.725347

Genome annotation databases

EnsembliENST00000282486; ENSP00000282486; ENSG00000152601 [Q9NR56-1]
ENST00000324196; ENSP00000319374; ENSG00000152601 [Q9NR56-7]
ENST00000324210; ENSP00000319429; ENSG00000152601 [Q9NR56-5]
ENST00000355460; ENSP00000347637; ENSG00000152601 [Q9NR56-2]
ENST00000357472; ENSP00000350064; ENSG00000152601 [Q9NR56-6]
ENST00000463374; ENSP00000418108; ENSG00000152601 [Q9NR56-1]
ENST00000465907; ENSP00000417630; ENSG00000152601 [Q9NR56-4]
ENST00000485509; ENSP00000418876; ENSG00000152601 [Q9NR56-7]
ENST00000485910; ENSP00000418427; ENSG00000152601 [Q9NR56-3]
ENST00000492948; ENSP00000420103; ENSG00000152601 [Q9NR56-6]
ENST00000545754; ENSP00000437491; ENSG00000152601 [Q9NR56-4]
GeneIDi4154
KEGGihsa:4154
UCSCiuc003ezh.4 human [Q9NR56-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13829 mRNA Translation: CAA74155.1
AB007888 mRNA Translation: BAA24858.2 Different initiation.
AF255334 mRNA Translation: AAF76138.1
AF395876 mRNA Translation: AAK82889.1
AF401998 mRNA Translation: AAK94915.1
AJ308400 mRNA Translation: CAC83727.1
AF497718 mRNA Translation: AAP30726.1
AF497719 mRNA Translation: AAP30727.1
AC026347 Genomic DNA No translation available.
AC106722 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78775.1
BC043493 mRNA Translation: AAH43493.1
CCDSiCCDS3163.1 [Q9NR56-5]
CCDS3164.1 [Q9NR56-2]
CCDS3165.1 [Q9NR56-1]
CCDS3166.1 [Q9NR56-4]
CCDS3167.1 [Q9NR56-7]
CCDS3168.1 [Q9NR56-6]
CCDS54656.1 [Q9NR56-3]
RefSeqiNP_001300986.1, NM_001314057.1
NP_066368.2, NM_021038.4 [Q9NR56-5]
NP_997175.1, NM_207292.2 [Q9NR56-2]
NP_997176.1, NM_207293.1 [Q9NR56-1]
NP_997177.1, NM_207294.1 [Q9NR56-3]
NP_997178.1, NM_207295.1 [Q9NR56-4]
NP_997179.1, NM_207296.1 [Q9NR56-7]
NP_997180.1, NM_207297.1 [Q9NR56-6]
XP_005247523.1, XM_005247466.4 [Q9NR56-1]
XP_005247528.1, XM_005247471.4 [Q9NR56-6]
XP_011511149.1, XM_011512847.2 [Q9NR56-4]
XP_011511151.1, XM_011512849.2 [Q9NR56-3]
XP_016861914.1, XM_017006425.1 [Q9NR56-1]
XP_016861915.1, XM_017006426.1 [Q9NR56-1]
XP_016861916.1, XM_017006427.1 [Q9NR56-5]
XP_016861917.1, XM_017006428.1 [Q9NR56-5]
XP_016861918.1, XM_017006429.1 [Q9NR56-5]
XP_016861919.1, XM_017006430.1 [Q9NR56-2]
XP_016861920.1, XM_017006431.1 [Q9NR56-2]
XP_016861925.1, XM_017006436.1 [Q9NR56-6]
UniGeneiHs.201858
Hs.725347

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D2NX-ray2.70A9-90[»]
3D2QX-ray1.50A/B/C/D178-246[»]
3D2SX-ray1.70A/B/C/D178-246[»]
5U6HNMR-A1-92[»]
5U6LNMR-A173-255[»]
5U9BNMR-A1-92[»]
ProteinModelPortaliQ9NR56
SMRiQ9NR56
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110324, 34 interactors
IntActiQ9NR56, 19 interactors
MINTiQ9NR56
STRINGi9606.ENSP00000282486

Chemistry databases

ChEMBLiCHEMBL1293317

PTM databases

iPTMnetiQ9NR56
PhosphoSitePlusiQ9NR56

Polymorphism and mutation databases

BioMutaiMBNL1
DMDMi17369313

Proteomic databases

EPDiQ9NR56
MaxQBiQ9NR56
PaxDbiQ9NR56
PeptideAtlasiQ9NR56
PRIDEiQ9NR56
ProteomicsDBi82279
82280 [Q9NR56-2]
82281 [Q9NR56-3]
82282 [Q9NR56-4]
82283 [Q9NR56-5]
82284 [Q9NR56-6]

Protocols and materials databases

DNASUi4154
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282486; ENSP00000282486; ENSG00000152601 [Q9NR56-1]
ENST00000324196; ENSP00000319374; ENSG00000152601 [Q9NR56-7]
ENST00000324210; ENSP00000319429; ENSG00000152601 [Q9NR56-5]
ENST00000355460; ENSP00000347637; ENSG00000152601 [Q9NR56-2]
ENST00000357472; ENSP00000350064; ENSG00000152601 [Q9NR56-6]
ENST00000463374; ENSP00000418108; ENSG00000152601 [Q9NR56-1]
ENST00000465907; ENSP00000417630; ENSG00000152601 [Q9NR56-4]
ENST00000485509; ENSP00000418876; ENSG00000152601 [Q9NR56-7]
ENST00000485910; ENSP00000418427; ENSG00000152601 [Q9NR56-3]
ENST00000492948; ENSP00000420103; ENSG00000152601 [Q9NR56-6]
ENST00000545754; ENSP00000437491; ENSG00000152601 [Q9NR56-4]
GeneIDi4154
KEGGihsa:4154
UCSCiuc003ezh.4 human [Q9NR56-1]

Organism-specific databases

CTDi4154
DisGeNETi4154
EuPathDBiHostDB:ENSG00000152601.17
GeneCardsiMBNL1
HGNCiHGNC:6923 MBNL1
HPAiCAB016398
HPA035098
MIMi160900 phenotype
606516 gene
613267 phenotype
neXtProtiNX_Q9NR56
OpenTargetsiENSG00000152601
PharmGKBiPA30666
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ9NR56
KOiK14943
PhylomeDBiQ9NR56
TreeFamiTF321931

Miscellaneous databases

ChiTaRSiMBNL1 human
EvolutionaryTraceiQ9NR56
GeneWikiiMBNL1
GenomeRNAii4154
PROiPR:Q9NR56
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152601 Expressed in 247 organ(s), highest expression level in blood
CleanExiHS_MBNL1
ExpressionAtlasiQ9NR56 baseline and differential
GenevisibleiQ9NR56 HS

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
ProtoNetiSearch...

Entry informationi

Entry nameiMBNL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NR56
Secondary accession number(s): E9PBW7
, O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: September 12, 2018
This is version 156 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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