Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    Mbnl1 muscleblind-like 1 (Drosophila) [ Mus musculus (house mouse) ]

    Gene ID: 56758, updated on 10-Sep-2016
    Official Symbol
    Mbnl1provided by MGI
    Official Full Name
    muscleblind-like 1 (Drosophila)provided by MGI
    Primary source
    MGI:MGI:1928482
    See related
    Ensembl:ENSMUSG00000027763 Vega:OTTMUSG00000051966
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mbnl; mKIAA0428
    Orthologs
    Location:
    3; 3 E1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (60472788..60629750)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (60305174..60433670)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 33650 Neighboring gene TGFB-induced factor homeobox 1, pseudogene Neighboring gene predicted gene, 33707 Neighboring gene predicted gene, 37035 Neighboring gene predicted gene, 38326

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classes of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compos...
    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemAdapted from Reactome, see: [http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=REACT_1675.1 REACT 1675.1] This process describes the conversion of precursor messenger RNA into mature messenge...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    regulatory region RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    RNA splicing ISO
    Inferred from Sequence Orthology
    more info
     
    alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
     
    embryonic limb morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    in utero embryonic development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA splice site selection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nervous system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic stress granule ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    muscleblind-like protein 1
    Names
    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.

    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
      Q3U581
      Related
      ENSMUSP00000142095, OTTMUSP00000070043, ENSMUST00000192607, OTTMUST00000130770
      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
      Q3U570
      Related
      ENSMUSP00000142057, OTTMUSP00000070196, ENSMUST00000191747, OTTMUST00000131164
      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
      Q3U570, Q3U581, Q4VA08
      Related
      ENSMUSP00000141576, OTTMUSP00000070219, ENSMUST00000195817, OTTMUST00000131218
      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
      Q3U570, Q3U581
      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
      Q3U581
      Related
      ENSMUSP00000141915, OTTMUSP00000070045, ENSMUST00000192807, OTTMUST00000130774
      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, Q3U581
      Related
      ENSMUSP00000141474, OTTMUSP00000070041, ENSMUST00000194069, OTTMUST00000130768
      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, Q3U581
      Related
      ENSMUSP00000096686, OTTMUSP00000070040, ENSMUST00000099087, OTTMUST00000130764
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      60472788..60629750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501791.3XP_006501854.1  

      See identical proteins and their annotated locations for XP_006501854.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    2. XM_006501788.3XP_006501851.1  

      See identical proteins and their annotated locations for XP_006501851.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    3. XM_006501789.3XP_006501852.1  

      See identical proteins and their annotated locations for XP_006501852.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    4. XM_006501793.3XP_006501856.1  

      See identical proteins and their annotated locations for XP_006501856.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    5. XM_006501798.3XP_006501861.1  

      See identical proteins and their annotated locations for XP_006501861.1

      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    6. XM_006501799.3XP_006501862.1  

      See identical proteins and their annotated locations for XP_006501862.1

      Related
      ENSMUSP00000141536, OTTMUSP00000070235, ENSMUST00000193647, OTTMUST00000131264
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    7. XM_006501787.3XP_006501850.1  

      See identical proteins and their annotated locations for XP_006501850.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    8. XM_006501786.3XP_006501849.1  

      See identical proteins and their annotated locations for XP_006501849.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    9. XM_006501797.3XP_006501860.1  

      See identical proteins and their annotated locations for XP_006501860.1

      Related
      ENSMUSP00000142088, OTTMUSP00000070191, ENSMUST00000193518, OTTMUST00000131154
      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    10. XM_006501790.3XP_006501853.1  

      See identical proteins and their annotated locations for XP_006501853.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    11. XM_006501772.1XP_006501835.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    12. XM_006501778.1XP_006501841.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    13. XM_006501773.1XP_006501836.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    14. XM_006501781.1XP_006501844.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    15. XM_017319661.1XP_017175150.1  

    16. XM_006501775.1XP_006501838.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    17. XM_017319662.1XP_017175151.1  

    18. XM_006501782.1XP_006501845.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    19. XM_006501783.1XP_006501846.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    20. XM_006501795.1XP_006501858.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    21. XM_006501777.1XP_006501840.1  

      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    22. XM_006501780.1XP_006501843.1  

      UniProtKB/TrEMBL
      A0A0A6YVV8
      Related
      ENSMUSP00000141287, OTTMUSP00000070194, ENSMUST00000193517, OTTMUST00000131159
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    23. XM_017319663.1XP_017175152.1  

    24. XM_017319664.1XP_017175153.1  

    25. XM_017319666.1XP_017175155.1  

    26. XM_006501784.2XP_006501847.1  

      Related
      ENSMUSP00000141954, OTTMUSP00000070042, ENSMUST00000194201, OTTMUST00000130769
      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    27. XM_006501796.2XP_006501859.1  

      See identical proteins and their annotated locations for XP_006501859.1

      Conserved Domains (1) summary
      smart00356
      Location:180204
      ZnF_C3H1; zinc finger
    28. XM_006501794.3XP_006501857.1  

      See identical proteins and their annotated locations for XP_006501857.1

      Conserved Domains (1) summary
      smart00356
      Location:125149
      ZnF_C3H1; zinc finger
    29. XM_017319665.1XP_017175154.1  

      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    30. XM_017319668.1XP_017175157.1  

    31. XM_006501774.2XP_006501837.1  

      Conserved Domains (1) summary
      smart00356
      Location:217241
      ZnF_C3H1; zinc finger
    32. XM_017319667.1XP_017175156.1  

      Conserved Domains (1) summary
      smart00356
      Location:88112
      ZnF_C3H1; zinc finger
    Support Center