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

Gene ID: 282635, updated on 27-Nov-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, Nov 2024]
Expression
Biased expression in Muscle (RPKM 816.1), Spleen (RPKM 751.1) and 9 other tissues See more
Orthologs
human mouse all
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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

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

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

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

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

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

    Related
    ENSRNOP00000108227.1, ENSRNOT00000137274.1

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

  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

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

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

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

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

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

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

    UniProtKB/TrEMBL
    A0A8I6AQ03, A6JVM0

  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

  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

  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

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

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

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

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

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

    UniProtKB/Swiss-Prot
    A0A8I6B1J2

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

    UniProtKB/TrEMBL
    A0A8I5Y4V0, A6JVL7

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

    Related
    ENSRNOP00000106207.1, ENSRNOT00000168888.1

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

    UniProtKB/TrEMBL
    A0A8I6AQ03, A6JVM0
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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