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

    Gene ID: 4154, updated on 5-Nov-2017
    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; 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
    Location:
    3q25.1-q25.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    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
     
    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 
    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 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    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
    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.

    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, OTTHUMP00000214227, ENST00000493459.5, OTTHUMT00000353601
      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
      ENSP00000319429.5, OTTHUMP00000214228, ENST00000324210.9, 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
      ENSP00000347637.2, OTTHUMP00000214226, ENST00000355460.6, 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
      ENSP00000418108.1, OTTHUMP00000214229, ENST00000463374.5, 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
      ENSP00000418427.1, OTTHUMP00000214231, ENST00000485910.5, 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/Swiss-Prot
      Q9NR56
      UniProtKB/TrEMBL
      Q86VM6
      Related
      ENSP00000437491.1, ENST00000545754.5
      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/Swiss-Prot
      Q9NR56
      UniProtKB/TrEMBL
      Q86VM6
      Related
      ENSP00000319374.5, ENST00000324196.9
      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/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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 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_017006439.1XP_016861928.1  muscleblind-like protein 1 isoform X24

      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    3. 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
    4. 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
    5. XM_005247464.4XP_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
    6. XM_005247466.4XP_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
    7. XM_017006432.1XP_016861921.1  muscleblind-like protein 1 isoform X13

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

      UniProtKB/TrEMBL
      C9JP00
      Related
      ENSP00000420327.1, OTTHUMP00000214230, ENST00000498502.5, OTTHUMT00000353605
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    9. XM_005247471.4XP_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
    10. XM_005247476.4XP_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
    11. XM_017006441.1XP_016861930.1  muscleblind-like protein 1 isoform X25

      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    12. XM_011512847.2XP_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
    13. XM_005247457.4XP_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
    14. XM_005247465.4XP_005247522.1  muscleblind-like protein 1 isoform X6

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    15. XM_005247461.4XP_005247518.1  muscleblind-like protein 1 isoform X2

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    16. XM_005247467.4XP_005247524.1  muscleblind-like protein 1 isoform X9

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    17. XM_005247462.4XP_005247519.1  muscleblind-like protein 1 isoform X3

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    18. XM_005247463.4XP_005247520.1  muscleblind-like protein 1 isoform X4

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    19. XM_011512843.2XP_011511145.1  muscleblind-like protein 1 isoform X11

      Conserved Domains (1) summary
      smart00356
      Location:144168
      ZnF_C3H1; zinc finger
    20. XM_011512845.2XP_011511147.1  muscleblind-like protein 1 isoform X15

      Conserved Domains (1) summary
      smart00356
      Location:144168
      ZnF_C3H1; zinc finger
    21. XM_011512846.2XP_011511148.1  muscleblind-like protein 1 isoform X18

      Conserved Domains (1) summary
      smart00356
      Location:144168
      ZnF_C3H1; zinc finger
    22. XM_017006438.1XP_016861927.1  muscleblind-like protein 1 isoform X20

    23. XM_011512849.2XP_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
    24. XM_005247468.4XP_005247525.1  muscleblind-like protein 1 isoform X12

      Conserved Domains (1) summary
      smart00356
      Location:212236
      ZnF_C3H1; zinc finger
    25. 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
    26. XM_017006435.1XP_016861924.1  muscleblind-like protein 1 isoform X16

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    27. 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
    28. XM_017006431.1XP_016861920.1  muscleblind-like protein 1 isoform X10

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

    30. 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
    31. XM_017006424.1XP_016861913.1  muscleblind-like protein 1 isoform X5

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

      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    33. 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
    34. XM_005247477.4XP_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
    35. XM_017006440.1XP_016861929.1  muscleblind-like protein 1 isoform X24

      Conserved Domains (1) summary
      smart00356
      Location:89113
      ZnF_C3H1; zinc finger
    36. 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
    37. XM_005247458.4XP_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
    38. XM_017006436.1XP_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_017006423.1XP_016861912.1  muscleblind-like protein 1 isoform X5

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

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

      Related
      ENSP00000418109.1, OTTHUMP00000214236, ENST00000464596.5, OTTHUMT00000353611
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    42. XM_017006425.1XP_016861914.1  muscleblind-like protein 1 isoform X7

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

      UniProtKB/TrEMBL
      C9JP00
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger
    44. XM_017006430.1XP_016861919.1  muscleblind-like protein 1 isoform X10

      UniProtKB/Swiss-Prot
      Q9NR56
      Conserved Domains (1) summary
      smart00356
      Location:181205
      ZnF_C3H1; zinc finger

    RNA

    1. XR_001740147.1 RNA Sequence

    2. XR_001740148.1 RNA Sequence

    3. XR_001740145.1 RNA Sequence

    4. XR_001740146.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      151949256..152146588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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