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

Gene ID: 56758, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 37.9), thymus adult (RPKM 23.1) and 27 other tissues See more
Orthologs
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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