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

Gene ID: 4154, updated on 7-Feb-2016
Official Symbol
MBNL1provided by HGNC
Official Full Name
muscleblind like splicing regulator 1provided by HGNC
Primary source
HGNC:HGNC:6923
See related
Ensembl:ENSG00000152601; HPRD:07355; MIM:606516; Vega:OTTHUMG00000159163
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]
Orthologs
See MBNL1 in Epigenomics, MapViewer
Location:
3q25
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (152244321..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 LOC105374161 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0428, DKFZp686P06174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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 splice site selection 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 IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
muscleblind-like protein 1
Names
muscleblind-like splicing regulator 1
triplet-expansion RNA-binding protein

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.

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
    UniProtKB/TrEMBL
    Q86VM6
    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:124148
    ZnF_C3H1; zinc finger
  2. 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, OTTHUMP00000214228, ENST00000324210, OTTHUMT00000353602
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  3. 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, OTTHUMP00000214226, ENST00000355460, OTTHUMT00000353599
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  4. 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, OTTHUMP00000214229, ENST00000463374, OTTHUMT00000353604
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  5. 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, OTTHUMP00000214231, ENST00000485910, OTTHUMT00000353606
    Conserved Domains (1) summary
    smart00356
    Location:113137
    ZnF_C3H1; zinc finger
  6. 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/TrEMBL
    Q86VM6
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000437491, ENST00000545754
    Conserved Domains (1) summary
    smart00356
    Location:113137
    ZnF_C3H1; zinc finger
  7. 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/TrEMBL
    Q86VM6
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000319374, ENST00000324196
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  8. 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/TrEMBL
    Q86VM6
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000350064, ENST00000357472
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    152244321..152465780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247475.2XP_005247532.1  

    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  

    See identical proteins and their annotated locations for XP_006713702.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  3. XM_005247457.3XP_005247514.1  

    See identical proteins and their annotated locations for XP_005247514.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  4. XM_005247465.3XP_005247522.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  5. XM_005247461.3XP_005247518.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  6. XM_005247467.3XP_005247524.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  7. XM_005247462.3XP_005247519.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  8. XM_005247463.3XP_005247520.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  9. XM_005247468.3XP_005247525.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  10. XM_011512843.1XP_011511145.1  

    Conserved Domains (1) summary
    smart00356
    Location:144168
    ZnF_C3H1; zinc finger
  11. XM_011512845.1XP_011511147.1  

    Conserved Domains (1) summary
    smart00356
    Location:144168
    ZnF_C3H1; zinc finger
  12. XM_011512846.1XP_011511148.1  

    Conserved Domains (1) summary
    smart00356
    Location:144168
    ZnF_C3H1; zinc finger
  13. XM_005247464.3XP_005247521.1  

    See identical proteins and their annotated locations for XP_005247521.1

    UniProtKB/TrEMBL
    A0A0A0MQX8
    Related
    ENSP00000282488, ENST00000282488
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  14. XM_005247466.3XP_005247523.1  

    See identical proteins and their annotated locations for XP_005247523.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000282486, ENST00000282486
    Conserved Domains (1) summary
    smart00356
    Location:181205
    ZnF_C3H1; zinc finger
  15. XM_005247471.3XP_005247528.1  

    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
  16. XM_011512847.1XP_011511149.1  

    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
  17. XM_011512849.1XP_011511151.1  

    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
  18. XM_005247474.3XP_005247531.1  

    See identical proteins and their annotated locations for XP_005247531.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  19. XM_005247476.3XP_005247533.1  

    See identical proteins and their annotated locations for XP_005247533.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  20. XM_006713641.1XP_006713704.1  

    See identical proteins and their annotated locations for XP_006713704.1

    Conserved Domains (1) summary
    smart00356
    Location:125149
    ZnF_C3H1; zinc finger
  21. XM_005247460.3XP_005247517.1  

    See identical proteins and their annotated locations for XP_005247517.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  22. XM_005247477.3XP_005247534.1  

    See identical proteins and their annotated locations for XP_005247534.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  23. XM_005247458.3XP_005247515.1  

    See identical proteins and their annotated locations for XP_005247515.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    ZnF_C3H1; zinc finger
  24. XM_011512848.1XP_011511150.1  

    See identical proteins and their annotated locations for XP_011511150.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    ZnF_C3H1; zinc finger
  25. XM_011512844.1XP_011511146.1  

    Conserved Domains (1) summary
    smart00356
    Location:131155
    ZnF_C3H1; zinc finger
  26. XM_005247470.2XP_005247527.1  

    Related
    ENSP00000419347, OTTHUMP00000214227, ENST00000493459, OTTHUMT00000353601
    Conserved Domains (1) summary
    smart00356
    Location:124148
    ZnF_C3H1; zinc finger

RNA

  1. XR_924141.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    151948828..152146588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)