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MBNL1 muscleblind like splicing regulator 1 [ Homo sapiens (human) ]

Gene ID: 4154, updated on 6-Jan-2019

Summary

Official Symbol
MBNL1provided by HGNC
Official Full Name
muscleblind like splicing regulator 1provided by HGNC
Primary source
HGNC:HGNC:6923
See related
Ensembl:ENSG00000152601 MIM:606516
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EXP; MBNL
Summary
This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
Expression
Ubiquitous expression in lymph node (RPKM 38.9), appendix (RPKM 34.6) and 24 other tissues See more
Orthologs

Genomic context

See MBNL1 in Genome Data Viewer
Location:
3q25.1-q25.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (152243656..152465780)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151962120..152183569)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986047 Neighboring gene uncharacterized LOC101928166 Neighboring gene MBNL1 antisense RNA 1 Neighboring gene uncharacterized LOC105374162 Neighboring gene transmembrane protein 14E, pseudogene Neighboring gene uncharacterized LOC105374163 Neighboring gene uncharacterized LOC102724289

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0428, DKFZp686P06174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
regulatory region RNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
muscleblind-like protein 1
Names
muscleblind-like
triplet-expansion RNA-binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047058.1 RefSeqGene

    Range
    29148..226460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001314057.1NP_001300986.1  muscleblind-like protein 1 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (h) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AB007888, AC026347, BC050535, Y13829
    Consensus CDS
    CCDS82864.1
    UniProtKB/Swiss-Prot
    Q9NR56
    UniProtKB/TrEMBL
    Q86VM6
    Related
    ENSP00000419347.1, ENST00000493459.5
    Conserved Domains (1) summary
    smart00356
    Location:124148
    ZnF_C3H1; zinc finger
  2. NM_001363870.1NP_001350799.1  muscleblind-like protein 1 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC026347, AC106722
    Consensus CDS
    CCDS87156.1
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  3. NM_021038.4NP_066368.2  muscleblind-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_066368.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes isoform a. Other names for this isoform are EXP41 and MBNL1subscript41.
    Source sequence(s)
    AB007888, BC043493, Y13829
    Consensus CDS
    CCDS3163.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000319429.5, ENST00000324210.9
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  4. NM_207292.2NP_997175.1  muscleblind-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_997175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Other names for this isoform are EXP40 and MBNL1subscript40.
    Source sequence(s)
    AB007888, AC106722, Y13829
    Consensus CDS
    CCDS3164.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000347637.2, ENST00000355460.6
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  5. NM_207293.1NP_997176.1  muscleblind-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_997176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains one alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a. Other names for this isoform are EXP42 and MBNL1subscript42.
    Source sequence(s)
    AC026347, BC043493, Y13829
    Consensus CDS
    CCDS3165.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000418108.1, ENST00000463374.5
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  6. NM_207294.1NP_997177.1  muscleblind-like protein 1 isoform d

    See identical proteins and their annotated locations for NP_997177.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Other names for this isoform are EXP35 and MBNL1subscript35.
    Source sequence(s)
    AC026347, AF255334, BC043493, Y13829
    Consensus CDS
    CCDS54656.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000418427.1, ENST00000485910.5
    Conserved Domains (1) summary
    smart00356
    Location:113137
    ZnF_C3H1; zinc finger
  7. NM_207295.1NP_997178.1  muscleblind-like protein 1 isoform e

    See identical proteins and their annotated locations for NP_997178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform a. Other names for this isoform are EXP36 and MBNL1subscript36.
    Source sequence(s)
    AC026347, AF395876, BC043493, BC050535, Y13829
    Consensus CDS
    CCDS3166.1
    UniProtKB/Swiss-Prot
    Q9NR56
    UniProtKB/TrEMBL
    Q86VM6
    Related
    ENSP00000437491.1, ENST00000545754.5
    Conserved Domains (1) summary
    smart00356
    Location:113137
    ZnF_C3H1; zinc finger
  8. NM_207296.1NP_997179.1  muscleblind-like protein 1 isoform f

    See identical proteins and their annotated locations for NP_997179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two alternate exons and contains an alternate exon in the 3' coding region, compared to variant 1. These differences result in a disruption of the reading frame in a portion of the 3' coding region, compared to variant 1. The encoded isoform (f) is shorter than isoform a. Another name for this isoform is MBNL1subscript40S.
    Source sequence(s)
    AC026347, AF497718, BC043493, BC050535, Y13829
    Consensus CDS
    CCDS3167.1
    UniProtKB/Swiss-Prot
    Q9NR56
    UniProtKB/TrEMBL
    Q86VM6
    Related
    ENSP00000319374.5, ENST00000324196.9
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  9. NM_207297.1NP_997180.1  muscleblind-like protein 1 isoform g

    See identical proteins and their annotated locations for NP_997180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon in the 3' coding region, resulting in a frameshift compared to variant 1. The encoded isoform (g) has a shorter and distinct C-terminus compared to isoform a. Other names for this isoform are EXP41S and MBNL1subscript41S.
    Source sequence(s)
    AC026347, AF497719, BC043493, BC050535, Y13829
    Consensus CDS
    CCDS3168.1
    UniProtKB/Swiss-Prot
    Q9NR56
    UniProtKB/TrEMBL
    Q86VM6
    Related
    ENSP00000350064.3, ENST00000357472.7
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    152243656..152465780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247475.3XP_005247532.1  muscleblind-like protein 1 isoform X22

    See identical proteins and their annotated locations for XP_005247532.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  2. XM_006713639.1XP_006713702.1  muscleblind-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006713702.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  3. XM_017006428.1XP_016861917.1  muscleblind-like protein 1 isoform X8

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  4. XM_005247457.5XP_005247514.1  muscleblind-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247514.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  5. XM_005247465.5XP_005247522.1  muscleblind-like protein 1 isoform X6

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  6. XM_005247461.5XP_005247518.1  muscleblind-like protein 1 isoform X2

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  7. XM_005247467.5XP_005247524.1  muscleblind-like protein 1 isoform X9

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  8. XM_005247462.5XP_005247519.1  muscleblind-like protein 1 isoform X3

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  9. XM_011512843.3XP_011511145.1  muscleblind-like protein 1 isoform X11

    Conserved Domains (1) summary
    smart00356
    Location:144168
    ZnF_C3H1; zinc finger
  10. XM_011512845.3XP_011511147.1  muscleblind-like protein 1 isoform X15

    Conserved Domains (1) summary
    smart00356
    Location:144168
    ZnF_C3H1; zinc finger
  11. XM_011512846.3XP_011511148.1  muscleblind-like protein 1 isoform X18

    Conserved Domains (1) summary
    smart00356
    Location:144168
    ZnF_C3H1; zinc finger
  12. XM_005247466.5XP_005247523.1  muscleblind-like protein 1 isoform X7

    See identical proteins and their annotated locations for XP_005247523.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000282486.6, ENST00000282486.10
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  13. XM_005247471.5XP_005247528.1  muscleblind-like protein 1 isoform X17

    See identical proteins and their annotated locations for XP_005247528.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  14. XM_017006438.2XP_016861927.1  muscleblind-like protein 1 isoform X20

  15. XM_011512847.3XP_011511149.1  muscleblind-like protein 1 isoform X21

    See identical proteins and their annotated locations for XP_011511149.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:113137
    ZnF_C3H1; zinc finger
  16. XM_011512849.3XP_011511151.1  muscleblind-like protein 1 isoform X23

    See identical proteins and their annotated locations for XP_011511151.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:113137
    ZnF_C3H1; zinc finger
  17. XM_005247464.5XP_005247521.1  muscleblind-like protein 1 isoform X5

    See identical proteins and their annotated locations for XP_005247521.1

    UniProtKB/TrEMBL
    A0A0A0MQX8
    Related
    ENSP00000282488.8, ENST00000282488.11
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  18. XM_005247463.5XP_005247520.1  muscleblind-like protein 1 isoform X4

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  19. XM_005247468.5XP_005247525.1  muscleblind-like protein 1 isoform X12

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  20. XM_017006432.2XP_016861921.1  muscleblind-like protein 1 isoform X13

    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  21. XM_017006433.2XP_016861922.1  muscleblind-like protein 1 isoform X14

    UniProtKB/TrEMBL
    C9JP00
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  22. XM_017006441.1XP_016861930.1  muscleblind-like protein 1 isoform X25

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  23. XM_005247476.5XP_005247533.1  muscleblind-like protein 1 isoform X24

    See identical proteins and their annotated locations for XP_005247533.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  24. XM_011512848.2XP_011511150.1  muscleblind-like protein 1 isoform X22

    See identical proteins and their annotated locations for XP_011511150.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  25. XM_017006435.1XP_016861924.1  muscleblind-like protein 1 isoform X16

    Conserved Domains (1) summary
    smart00356
    Location:125149
    ZnF_C3H1; zinc finger
  26. XM_005247474.3XP_005247531.1  muscleblind-like protein 1 isoform X22

    See identical proteins and their annotated locations for XP_005247531.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  27. XM_017006431.2XP_016861920.1  muscleblind-like protein 1 isoform X10

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  28. XM_017006443.1XP_016861932.1  muscleblind-like protein 1 isoform X26

  29. XM_017006426.1XP_016861915.1  muscleblind-like protein 1 isoform X7

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  30. XM_017006424.2XP_016861913.1  muscleblind-like protein 1 isoform X5

    UniProtKB/TrEMBL
    A0A0A0MQX8
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  31. XM_017006442.1XP_016861931.1  muscleblind-like protein 1 isoform X25

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  32. XM_017006429.1XP_016861918.1  muscleblind-like protein 1 isoform X8

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  33. XM_005247477.5XP_005247534.1  muscleblind-like protein 1 isoform X22

    See identical proteins and their annotated locations for XP_005247534.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  34. XM_017006440.2XP_016861929.1  muscleblind-like protein 1 isoform X24

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  35. XM_005247460.4XP_005247517.1  muscleblind-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247517.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  36. XM_005247458.5XP_005247515.1  muscleblind-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005247515.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  37. XM_017006425.2XP_016861914.1  muscleblind-like protein 1 isoform X7

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  38. XM_017006436.2XP_016861925.1  muscleblind-like protein 1 isoform X17

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  39. XM_017006437.2XP_016861926.1  muscleblind-like protein 1 isoform X19

    Related
    ENSP00000418109.1, ENST00000464596.5
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  40. XM_017006423.2XP_016861912.1  muscleblind-like protein 1 isoform X5

    UniProtKB/TrEMBL
    A0A0A0MQX8
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  41. XM_017006427.2XP_016861916.1  muscleblind-like protein 1 isoform X8

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  42. XM_017006430.2XP_016861919.1  muscleblind-like protein 1 isoform X10

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  43. XM_017006434.2XP_016861923.1  muscleblind-like protein 1 isoform X14

    UniProtKB/TrEMBL
    C9JP00
    Related
    ENSP00000420327.1, ENST00000498502.5
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger

RNA

  1. XR_001740145.2 RNA Sequence

  2. XR_001740146.2 RNA Sequence

  3. XR_001740147.2 RNA Sequence

  4. XR_002959535.1 RNA Sequence

  5. XR_001740148.2 RNA Sequence

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