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    Mbnl1 muscleblind like splicing regulator 1 [ Mus musculus (house mouse) ]

    Gene ID: 56758, updated on 2-Nov-2024

    Summary

    Official Symbol
    Mbnl1provided by MGI
    Official Full Name
    muscleblind like splicing regulator 1provided by MGI
    Primary source
    MGI:MGI:1928482
    See related
    Ensembl:ENSMUSG00000027763 AllianceGenome:MGI:1928482
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mbnl; mKIAA0428
    Summary
    Predicted to enable double-stranded RNA binding activity and regulatory region RNA binding activity. Involved in several processes, including embryonic limb morphogenesis; in utero embryonic development; and myoblast differentiation. Acts upstream of or within alternative mRNA splicing, via spliceosome; mRNA splice site recognition; and skeletal muscle tissue development. Located in cytoplasm and nucleus. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and retina. Used to study myotonic disease and myotonic dystrophy type 1. Orthologous to human MBNL1 (muscleblind like splicing regulator 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 37.9), thymus adult (RPKM 23.1) and 27 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Mbnl1 in Genome Data Viewer
    Location:
    3 D; 3 29.17 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (60380209..60537171)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (60472559..60629750)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33650 Neighboring gene TGFB-induced factor homeobox 1, pseudogene Neighboring gene predicted gene, 54175 Neighboring gene STARR-positive B cell enhancer mm9_chr3:60242667-60242968 Neighboring gene STARR-positive B cell enhancer ABC_E11185 Neighboring gene STARR-positive B cell enhancer mm9_chr3:60272664-60272964 Neighboring gene STARR-positive B cell enhancer mm9_chr3:60276070-60276371 Neighboring gene STARR-positive B cell enhancer ABC_E11186 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:60320177-60320451 Neighboring gene STARR-positive B cell enhancer ABC_E1619 Neighboring gene STARR-positive B cell enhancer ABC_E4544 Neighboring gene STARR-positive B cell enhancer ABC_E6056 Neighboring gene STARR-seq mESC enhancer starr_07781 Neighboring gene STARR-positive B cell enhancer ABC_E11187 Neighboring gene STARR-seq mESC enhancer starr_07783 Neighboring gene predicted gene, 33707 Neighboring gene predicted gene, 38326

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables double-stranded RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables regulatory region RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasmic stress granule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic stress granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001253708.2NP_001240637.1  muscleblind-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001240637.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon near the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC113007, AC121309, AK153827, BP761861, CJ101600, CN536020, CN667515
      Consensus CDS
      CCDS79917.1
      UniProtKB/Swiss-Prot
      Q9JKP5
      UniProtKB/TrEMBL
      Q8CAQ1
      Related
      ENSMUSP00000142095.2, ENSMUST00000192607.6
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    2. NM_001253709.2NP_001240638.1  muscleblind-like protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001240638.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks the exon containing the start codon and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AC121309, AK153848, BP761861, CJ101600
      Consensus CDS
      CCDS79919.1
      UniProtKB/TrEMBL
      A0A0A6YXQ4, Q3U570
      Related
      ENSMUSP00000142057.2, ENSMUST00000191747.6
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    3. NM_001253710.2NP_001240639.1  muscleblind-like protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001240639.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks the exon containing the start codon and lacks an alternate exon in the 3' end compared to variant 1 that causes a frameshift. The resulting isoform (4) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC121309, AK153827, AK153848, BP761861, CJ101600
      UniProtKB/TrEMBL
      A0A0A6YWG1, Q4VA08
      Related
      ENSMUSP00000141576.2, ENSMUST00000195817.3
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    4. NM_001253711.2NP_001240640.1  muscleblind-like protein 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks the exon containing the start codon, contains an alternate in-frame exon, and lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (5) is shorter at the N-terminus, contains an alternate internal segment, and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC121309, AK153827, AK153848, BP761861, CJ101600, CN663545
      UniProtKB/TrEMBL
      A0A0A6YWG1
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    5. NM_001253713.2NP_001240642.1  muscleblind-like protein 1 isoform 6

      See identical proteins and their annotated locations for NP_001240642.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has two alternate exons in place of the first two exons, including the one containing the start codon, compared to variant 1. The resulting isoform (6) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC121309, AK153827, BB841817, BP761861
      Consensus CDS
      CCDS79918.1
      UniProtKB/TrEMBL
      A0A0A6YXQ4, Q3U581
      Related
      ENSMUSP00000141915.2, ENSMUST00000192807.6
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    6. NM_001310514.1NP_001297443.1  muscleblind-like protein 1 isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has multiple coding region differences, one of which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (7) is shorter and has a distinct C-terminus compared to variant 1.
      Source sequence(s)
      AC113007, AC121309, AK153827, BP761861, CJ101600, CN536020, CN667515
      Consensus CDS
      CCDS79916.1
      UniProtKB/TrEMBL
      A0A0A6YWB0, Q8CAQ1
      Related
      ENSMUSP00000141474.2, ENSMUST00000194069.6
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    7. NM_020007.4NP_064391.2  muscleblind-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_064391.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC113007, AC121309, AK153827, BP761861, CJ101600, CN667515
      Consensus CDS
      CCDS17376.1
      UniProtKB/TrEMBL
      G3X9Q0, Q8CHF5
      Related
      ENSMUSP00000096686.3, ENSMUST00000099087.8
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      60380209..60537171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252702.2XP_030108562.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    2. XM_006501793.5XP_006501856.1  muscleblind-like protein 1 isoform X17

      See identical proteins and their annotated locations for XP_006501856.1

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    3. XM_036163192.1XP_036019085.1  muscleblind-like protein 1 isoform X26

      UniProtKB/TrEMBL
      A0A0A6YWG1
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    4. XM_006501799.5XP_006501862.1  muscleblind-like protein 1 isoform X22

      See identical proteins and their annotated locations for XP_006501862.1

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Related
      ENSMUSP00000141536.2, ENSMUST00000193647.6
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    5. XM_036163186.1XP_036019079.1  muscleblind-like protein 1 isoform X21

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    6. XM_030252720.1XP_030108580.1  muscleblind-like protein 1 isoform X17

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    7. XM_036163188.1XP_036019081.1  muscleblind-like protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Related
      ENSMUSP00000142088.2, ENSMUST00000193518.6
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    8. XM_030252716.2XP_030108576.1  muscleblind-like protein 1 isoform X13

      UniProtKB/TrEMBL
      Q8CHF5
      Related
      ENSMUSP00000141954.2, ENSMUST00000194201.6
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    9. XM_030252707.2XP_030108567.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    10. XM_030252706.2XP_030108566.1  muscleblind-like protein 1 isoform X4

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    11. XM_030252721.2XP_030108581.1  muscleblind-like protein 1 isoform X21

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    12. XM_030252719.2XP_030108579.1  muscleblind-like protein 1 isoform X16

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    13. XM_017319664.3XP_017175153.1  muscleblind-like protein 1 isoform X19

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    14. XM_017319666.3XP_017175155.1  muscleblind-like protein 1 isoform X23

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    15. XM_036163187.1XP_036019080.1  muscleblind-like protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    16. XM_030252718.2XP_030108578.1  muscleblind-like protein 1 isoform X15

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    17. XM_030252701.2XP_030108561.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    18. XM_030252723.1XP_030108583.1  muscleblind-like protein 1 isoform X24

      UniProtKB/TrEMBL
      A0A0A6YXQ4, Q3U581
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    19. XM_036163190.1XP_036019083.1  muscleblind-like protein 1 isoform X24

      UniProtKB/TrEMBL
      A0A0A6YXQ4, Q3U581
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    20. XM_030252712.2XP_030108572.1  muscleblind-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A0A6YVV8, Q8CHF5
      Related
      ENSMUSP00000141287.2, ENSMUST00000193517.6
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    21. XM_036163191.1XP_036019084.1  muscleblind-like protein 1 isoform X25

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    22. XM_030252711.1XP_030108571.1  muscleblind-like protein 1 isoform X6

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    23. XM_030252703.1XP_030108563.1  muscleblind-like protein 1 isoform X2

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    24. XM_030252713.1XP_030108573.1  muscleblind-like protein 1 isoform X8

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    25. XM_030252704.1XP_030108564.1  muscleblind-like protein 1 isoform X3

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    26. XM_030252715.1XP_030108575.1  muscleblind-like protein 1 isoform X11

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    27. XM_030252717.1XP_030108577.1  muscleblind-like protein 1 isoform X14

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    28. XM_006501782.2XP_006501845.1  muscleblind-like protein 1 isoform X9

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    29. XM_006501783.2XP_006501846.1  muscleblind-like protein 1 isoform X12

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    30. XM_006501795.2XP_006501858.1  muscleblind-like protein 1 isoform X20

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    31. XM_006501787.4XP_006501850.1  muscleblind-like protein 1 isoform X17

      See identical proteins and their annotated locations for XP_006501850.1

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    32. XM_006501786.4XP_006501849.1  muscleblind-like protein 1 isoform X17

      See identical proteins and their annotated locations for XP_006501849.1

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    33. XM_006501797.5XP_006501860.1  muscleblind-like protein 1 isoform X22

      See identical proteins and their annotated locations for XP_006501860.1

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    34. XM_036163189.1XP_036019082.1  muscleblind-like protein 1 isoform X23

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    35. XM_036163180.1XP_036019073.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    36. XM_036163181.1XP_036019074.1  muscleblind-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A0A6YVV8, Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    37. XM_036163185.1XP_036019078.1  muscleblind-like protein 1 isoform X21

      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    38. XM_030252709.2XP_030108569.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    39. XM_036163184.1XP_036019077.1  muscleblind-like protein 1 isoform X18

      UniProtKB/Swiss-Prot
      Q9JKP5
      UniProtKB/TrEMBL
      Q8CAQ1
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    40. XM_036163183.1XP_036019076.1  muscleblind-like protein 1 isoform X13

      UniProtKB/TrEMBL
      Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    41. XM_036163182.1XP_036019075.1  muscleblind-like protein 1 isoform X10

      UniProtKB/TrEMBL
      G3X9Q0, Q8CHF5
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    42. XM_006501794.4XP_006501857.1  muscleblind-like protein 1 isoform X17

      See identical proteins and their annotated locations for XP_006501857.1

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    43. XM_017319665.2XP_017175154.1  muscleblind-like protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A0A6YXQ4
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger