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MBNL1
HPA
RESOURCES
  • TISSUE
  • BRAIN
  • SINGLE CELL
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Gene name
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Class
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Annotation
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Category
Tau score
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Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
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Tau score
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Tau score
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Tau score
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Cluster
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Cancer
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Cancer
Category
Tau score
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Variants
Interacting gene (ensg_id)
Type
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Validation
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  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • MBNL1
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MBNL1
Synonyms EXP, EXP35, EXP40, EXP42, KIAA0428, MBNL
Gene descriptioni

Full gene name according to HGNC.

Muscleblind like splicing regulator 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Transcription (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (Microglial cells)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Basic cellular processes (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm In addition localized to the Cytosol
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 3
Cytoband
Chromosome location (bp) 152243828 - 152465780
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

19
Ensembl ENSG00000152601 (version 109)
Entrez gene 4154
HGNC HGNC:6923
UniProt Q9NR56 (UniProt - Evidence at protein level)
neXtProt NX_Q9NR56
GeneCards MBNL1
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
MBNL1-201
MBNL1-202
MBNL1-203
MBNL1-204
MBNL1-205
MBNL1-206
MBNL1-207
MBNL1-209
MBNL1-211
MBNL1-212
MBNL1-213
MBNL1-216
MBNL1-217
MBNL1-218
MBNL1-219
MBNL1-220
MBNL1-221
MBNL1-223
MBNL1-224
»

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Clinical
Alphamissense variants:
Off
Benign
Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MBNL1-201
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
388 aa
41.8 kDa
No 0
MBNL1-202
A0A0A0MQX8
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
400 aa
43 kDa
No 0
MBNL1-203
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
340 aa
37 kDa
No 0
MBNL1-204
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
382 aa
41 kDa
No 0
MBNL1-205
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
370 aa
39.8 kDa
No 0
MBNL1-206
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
342 aa
37.1 kDa
No 0
MBNL1-207
C9J4T8
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
58 aa
6.6 kDa
No 0
MBNL1-209
C9JCX1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
155 aa
16.6 kDa
No 0
MBNL1-211
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
388 aa
41.8 kDa
No 0
MBNL1-212
H7C4T5
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
329 aa
35.7 kDa
No 0
MBNL1-213
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
314 aa
34.2 kDa
No 0
MBNL1-216
H7C4Y1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
210 aa
22.3 kDa
No 0
MBNL1-217
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
340 aa
37 kDa
No 0
MBNL1-218
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
302 aa
33 kDa
No 0
MBNL1-219
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
342 aa
37.1 kDa
No 0
MBNL1-220
Q86VM6
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
343 aa
36.6 kDa
No 0
MBNL1-221
C9J7P7
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
90 aa
9.1 kDa
No 0
MBNL1-223
C9JP00
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
348 aa
37.9 kDa
No 0
MBNL1-224
Q9NR56
Show all
Predicted intracellular proteins
Disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
314 aa
34.2 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Non-specific - Basic cellular processes

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 1
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DAB11361500
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DAB11361500
HNRNPH14332122851
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DAB11361500
HNRNPL334112701
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 1
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
CAPZB9661276660
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 105
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
A2ML1000132
ACP700009
ALB018015
ALDH3A1122022
ALOX12B010030
ALOX1502003
ANKRD2200005
ANXA80150018
APOA161018013
APOA404102
ARHGAP1231419
ARL8B3573115
ATL34142614
C1QC03004
C31113322
CALML3245342
CALML5112030
CBR1133017
CBR312206
CD20705003
CERS3040032
CKAP492651225
CLIC3122208
CP000011
CPA4000017
CTSV010323
CYP4F2204007
DHRS1026004
DSG3001012
DUOX102003
EHD15519017
EPS8L205307
EVPL001118
FAM162A12327
FGB113018
GBP105008
GLTP01002
GLUL1271128
GM2A020019
GSDMA021123
H1-57640313
H2AC203048035
H2AX2229126039
H3-7002027
HAL001033
HEPHL1000017
HLA-DRA134055
HLA-DRB1011057
HMGCS101149
HMOX10252017
HP132016
HPGD00004
HPX010012
HRG13205
HSPA8644344629101
IDH2005018
IGHG1010035
IGHG2000028
IGLL5001134
IL36RN1121012
IVL020031
KLK100000115
LCP1112014
LGALS7061027
LGALS7B161027
NAGK193018
NAPA325434138
NCCRP1011028
NDRG141422215
NIBAN211908
NSDHL337204
ORM1121018
OXSR13413533
PCYT1A112303
PGRMC21055182413
PKP313608
PLIN205312
PPL3317023
PPP1R13L6617113
RAB181361215
RAB38090015
RAB3D03123
RAB5A122057020
RAB5B441008
RDH1201007
RPS4Y2102041
S100A21134021
SDR16C509009
SDR9C7000022
SERPINA3161026
SERPINB3114132
SERPINB4232036
SERPINB7000023
SERPINF105104
SH3GL15211256
SH3GLB2219414
TACSTD204002
TF0203024
TGM10241035
TGM3112026
TRIM1602106
TYMP020022
VIM36881021425
VTN28504
WIF1040087
Show allShow less
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

MBNL1 is not a metabolic protein

Contact

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The Human Protein Atlas

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


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