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    Mbnl1 muscleblind-like splicing regulator 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 282635, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mbnl1provided by RGD
    Official Full Name
    muscleblind-like splicing regulator 1provided by RGD
    Primary source
    RGD:628668
    See related
    EnsemblRapid:ENSRNOG00000014076 AllianceGenome:RGD:628668
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Mbnl
    Summary
    Enables regulatory region RNA binding activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in cytoplasmic stress granule; cytosol; and nucleus. Predicted to be active in cytoplasm and nucleoplasm. Orthologous to human MBNL1 (muscleblind like splicing regulator 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Muscle (RPKM 816.1), Spleen (RPKM 751.1) and 9 other tissues See more
    Orthologs
    human mouse all
    NEW
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    Genomic context

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    See Mbnl1 in Genome Data Viewer
    Location:
    2q31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (146789570..146964136)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (144639819..144814395)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (150698248..150867791)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120100832 Neighboring gene U4 spliceosomal RNA Neighboring gene ferritin light chain 1 like 4 Neighboring gene protein FAM246C-like Neighboring gene zinc finger, MYND-type containing 8, pseudogene 1 Neighboring gene mitochondrial transcription termination factor 1, pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. MBNL1 and PTB cooperate to repress splicing of Tpm1 exon 3. Gooding C, et al. Nucleic Acids Res, 2013 May. PMID 23511971, Free PMC Article
    2. Dynamic integration of splicing within gene regulatory pathways. Braunschweig U, et al. Cell, 2013 Mar 14. PMID 23498935, Free PMC Article
    3. Gene expression profiling in Brodmann's area 46 from subjects with schizophrenia. Dean B, et al. Aust N Z J Psychiatry, 2007 Apr. PMID 17464717
    4. A muscleblind knockout model for myotonic dystrophy. Kanadia RN, et al. Science, 2003 Dec 12. PMID 14671308
    5. Identification of RBPMS as a mammalian smooth muscle master splicing regulator via proximity of its gene with super-enhancers. Nakagaki-Silva EE, et al. Elife, 2019 Jul 8. PMID 31283468, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 double-stranded RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables regulatory region RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in embryonic limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mRNA splice site recognition ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in myoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nervous system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle tissue development 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic stress granule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic stress granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    muscleblind-like protein 1
    Names
    muscleblind-like 1

    NCBI Reference Sequences (RefSeq)

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    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_001191566.2 → NP_001178495.1  muscleblind-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001178495.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000002
      UniProtKB/Swiss-Prot
      A0A8I6B1J2
      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    2. NM_001412543.1 → NP_001399472.1  muscleblind-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000002
      UniProtKB/TrEMBL
      A0A8I5Y4V0, A6JVL7, F1M9N4

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086020.1 Reference GRCr8

      Range
      146789570..146964136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039101827.2 → XP_038957755.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      F1M9N4
      Related
      ENSRNOP00000033304.7, ENSRNOT00000036808.7
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    2. XM_063281382.1 → XP_063137452.1  muscleblind-like protein 1 isoform X3

      UniProtKB/TrEMBL
      F1M9N4

    3. XM_063281386.1 → XP_063137456.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      F1M9N4

    4. XM_063281390.1 → XP_063137460.1  muscleblind-like protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A8I5Y4V0, A6JVL7, F1M9N4
      Related
      ENSRNOP00000070159.2, ENSRNOT00000088461.3

    5. XM_063281392.1 → XP_063137462.1  muscleblind-like protein 1 isoform X14

      UniProtKB/TrEMBL
      F1M9N4
      Related
      ENSRNOP00000108227.1, ENSRNOT00000137274.1

    6. XM_063281399.1 → XP_063137469.1  muscleblind-like protein 1 isoform X20

      UniProtKB/TrEMBL
      A6JVM1

    7. XM_039101852.2 → XP_038957780.1  muscleblind-like protein 1 isoform X19

      Conserved Domains (1) summary
      smart00356
      Location:125 → 149
      ZnF_C3H1; zinc finger

    8. XM_063281379.1 → XP_063137449.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      F1M9N4

    9. XM_063281381.1 → XP_063137451.1  muscleblind-like protein 1 isoform X3

      UniProtKB/TrEMBL
      F1M9N4

    10. XM_063281384.1 → XP_063137454.1  muscleblind-like protein 1 isoform X4

      UniProtKB/TrEMBL
      F1M9N4

    11. XM_063281385.1 → XP_063137455.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      F1M9N4

    12. XM_063281389.1 → XP_063137459.1  muscleblind-like protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A8I5Y4V0, A6JVL7, F1M9N4
      Related
      ENSRNOP00000095306.2, ENSRNOT00000102621.2

    13. XM_063281400.1 → XP_063137470.1  muscleblind-like protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A8I6AQ03, A6JVM0, A6JVM1

    14. XM_063281397.1 → XP_063137467.1  muscleblind-like protein 1 isoform X19

    15. XM_063281403.1 → XP_063137473.1  muscleblind-like protein 1 isoform X24

    16. XM_063281405.1 → XP_063137475.1  muscleblind-like protein 1 isoform X25

    17. XM_063281406.1 → XP_063137476.1  muscleblind-like protein 1 isoform X26

      Related
      ENSRNOP00000100802.1, ENSRNOT00000130882.1

    18. XM_063281407.1 → XP_063137477.1  muscleblind-like protein 1 isoform X27

    19. XM_063281408.1 → XP_063137478.1  muscleblind-like protein 1 isoform X28

    20. XM_039101825.2 → XP_038957753.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    21. XM_039101835.2 → XP_038957763.1  muscleblind-like protein 1 isoform X6

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    22. XM_039101838.2 → XP_038957766.1  muscleblind-like protein 1 isoform X8

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    23. XM_039101831.2 → XP_038957759.1  muscleblind-like protein 1 isoform X3

      UniProtKB/TrEMBL
      F1M9N4
      Related
      ENSRNOP00000076663.2, ENSRNOT00000111474.2
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    24. XM_039101841.2 → XP_038957769.1  muscleblind-like protein 1 isoform X11

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    25. XM_039101832.2 → XP_038957760.1  muscleblind-like protein 1 isoform X4

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    26. XM_039101845.2 → XP_038957773.1  muscleblind-like protein 1 isoform X15

      UniProtKB/TrEMBL
      F1M9N4
      Related
      ENSRNOP00000081828.2, ENSRNOT00000106022.2
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    27. XM_039101839.2 → XP_038957767.1  muscleblind-like protein 1 isoform X9

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    28. XM_039101843.2 → XP_038957771.1  muscleblind-like protein 1 isoform X13

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    29. XM_039101857.2 → XP_038957785.1  muscleblind-like protein 1 isoform X21

      UniProtKB/TrEMBL
      A6JVM1
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    30. XM_039101834.2 → XP_038957762.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      F1M9N4
      Related
      ENSRNOP00000094816.2, ENSRNOT00000097984.2
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    31. XM_039101846.2 → XP_038957774.1  muscleblind-like protein 1 isoform X16

      UniProtKB/TrEMBL
      A6JVL8, A6JVM1
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    32. XM_039101848.2 → XP_038957776.1  muscleblind-like protein 1 isoform X17

      UniProtKB/TrEMBL
      A6JVM1
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    33. XM_039101844.2 → XP_038957772.1  muscleblind-like protein 1 isoform X14

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    34. XM_039101859.2 → XP_038957787.1  muscleblind-like protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A8I6AQ03, A6JVM0, A6JVM1
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    35. XM_039101849.2 → XP_038957777.1  muscleblind-like protein 1 isoform X18

      UniProtKB/TrEMBL
      A6JVM1
      Conserved Domains (1) summary
      smart00356
      Location:180 → 204
      ZnF_C3H1; zinc finger

    36. XM_063281398.1 → XP_063137468.1  muscleblind-like protein 1 isoform X20

      UniProtKB/TrEMBL
      A6JVM1

    37. XM_008761039.4 → XP_008759261.1  muscleblind-like protein 1 isoform X12

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    38. XM_063281402.1 → XP_063137472.1  muscleblind-like protein 1 isoform X23

      UniProtKB/TrEMBL
      A6JVM1

    39. XM_039101828.2 → XP_038957756.1  muscleblind-like protein 1 isoform X1

      UniProtKB/TrEMBL
      F1M9N4
      Conserved Domains (1) summary
      smart00356
      Location:217 → 241
      ZnF_C3H1; zinc finger

    40. XM_063281380.1 → XP_063137450.1  muscleblind-like protein 1 isoform X2

      UniProtKB/TrEMBL
      F1M9N4

    41. XM_063281383.1 → XP_063137453.1  muscleblind-like protein 1 isoform X3

      UniProtKB/TrEMBL
      F1M9N4

    42. XM_063281394.1 → XP_063137464.1  muscleblind-like protein 1 isoform X15

      UniProtKB/TrEMBL
      F1M9N4

    43. XM_063281387.1 → XP_063137457.1  muscleblind-like protein 1 isoform X5

      UniProtKB/TrEMBL
      F1M9N4

    44. XM_063281395.1 → XP_063137465.1  muscleblind-like protein 1 isoform X17

      UniProtKB/TrEMBL
      A6JVM1

    45. XM_063281388.1 → XP_063137458.1  muscleblind-like protein 1 isoform X7

      UniProtKB/Swiss-Prot
      A0A8I6B1J2
      UniProtKB/TrEMBL
      F1M9N4

    46. XM_063281391.1 → XP_063137461.1  muscleblind-like protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A8I5Y4V0, A6JVL7, F1M9N4

    47. XM_063281393.1 → XP_063137463.1  muscleblind-like protein 1 isoform X14

      UniProtKB/TrEMBL
      F1M9N4
      Related
      ENSRNOP00000106207.1, ENSRNOT00000168888.1

    48. XM_063281401.1 → XP_063137471.1  muscleblind-like protein 1 isoform X22

      UniProtKB/TrEMBL
      A0A8I6AQ03, A6JVM0, A6JVM1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A8I6B1J2.1 GenPept UniProtKB/Swiss-Prot:A0A8I6B1J2

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