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    MBNL3 muscleblind like splicing regulator 3 [ Homo sapiens (human) ]

    Gene ID: 55796, updated on 21-Apr-2019

    Summary

    Official Symbol
    MBNL3provided by HGNC
    Official Full Name
    muscleblind like splicing regulator 3provided by HGNC
    Primary source
    HGNC:HGNC:20564
    See related
    Ensembl:ENSG00000076770 MIM:300413
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHCR; MBLX; MBXL; MBLX39
    Summary
    This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
    Expression
    Broad expression in placenta (RPKM 21.9), testis (RPKM 7.6) and 16 other tissues See more
    Orthologs

    Genomic context

    See MBNL3 in Genome Data Viewer
    Location:
    Xq26.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (132369314..132490030, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131503342..131624063, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene acylglycerol kinase pseudogene Neighboring gene RAP2C antisense RNA 1 Neighboring gene RAP2C, member of RAS oncogene family Neighboring gene RNA, U6 small nuclear 98, pseudogene Neighboring gene HS6ST2 antisense RNA 1 Neighboring gene heparan sulfate 6-O-sulfotransferase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11316, FLJ97142

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    muscleblind-like protein 3
    Names
    Cys3His CCG1-required protein
    muscleblind-like 3
    muscleblind-like X-linked protein

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_016324.2 RefSeqGene

      Range
      55279..125655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170701.1NP_001164172.1  muscleblind-like protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001164172.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI633721, AK002178, AL050310, AW665447, AY072692, BU569439, DA832176
      Consensus CDS
      CCDS55494.1
      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000359886.3, ENST00000370849.7
      Conserved Domains (1) summary
      smart00356
      Location:124150
      ZnF_C3H1; zinc finger
    2. NM_001170702.1NP_001164173.1  muscleblind-like protein 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI633721, AK002178, AL050310, AW665447, AY072692, BU569439, DA832176
      Consensus CDS
      CCDS55493.1
      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000439618.1, ENST00000538204.5
      Conserved Domains (1) summary
      smart00356
      Location:124150
      ZnF_C3H1; zinc finger
    3. NM_001170703.1NP_001164174.1  muscleblind-like protein 3 isoform 5

      See identical proteins and their annotated locations for NP_001164174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1. Variants 5 and 6 encode the same isoform (5).
      Source sequence(s)
      AI633721, AK300248, AL050310, AW665447, AY072692, DA832176, DB023330
      Consensus CDS
      CCDS55492.1
      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000377848.2, ENST00000394311.6
      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    4. NM_001170704.1NP_001164175.1  muscleblind-like protein 3 isoform 5

      See identical proteins and their annotated locations for NP_001164175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1. Variants 5 and 6 encode the same isoform (5).
      Source sequence(s)
      AI633721, AL050310, AW665447, AY072692, BC042090, DA832176, DC380677
      Consensus CDS
      CCDS55492.1
      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000359881.1, ENST00000370844.5
      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    5. NM_018388.3NP_060858.2  muscleblind-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_060858.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as variant G) encodes the longest isoform (1, also known as isoform G).
      Source sequence(s)
      AI633721, AL050310, AW665447, AY072692, DA832176
      Consensus CDS
      CCDS14633.1
      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000359890.3, ENST00000370853.7
      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    6. NM_133486.2NP_597846.1  muscleblind-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_597846.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as variant R) uses an alternate in-frame splice site and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. This results in a shorter protein (isoform 2, also known as isoform R), compared to isoform 1.
      Source sequence(s)
      AI633721, AJ427919, AL050310, AW665447, AY072692, DA832176
      Consensus CDS
      CCDS14634.1
      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000359876.3, ENST00000370839.7
      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      132369314..132490030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262441.3XP_005262498.1  muscleblind-like protein 3 isoform X9

      See identical proteins and their annotated locations for XP_005262498.1

      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    2. XM_017029638.1XP_016885127.1  muscleblind-like protein 3 isoform X9

      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    3. XM_017029636.1XP_016885125.1  muscleblind-like protein 3 isoform X3

      UniProtKB/Swiss-Prot
      Q9NUK0
      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    4. XM_005262442.3XP_005262499.1  muscleblind-like protein 3 isoform X9

      See identical proteins and their annotated locations for XP_005262499.1

      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    5. XM_024452402.1XP_024308170.1  muscleblind-like protein 3 isoform X4

      Related
      ENSP00000359894.3, ENST00000370857.7
      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    6. XM_024452401.1XP_024308169.1  muscleblind-like protein 3 isoform X2

      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    7. XM_005262431.3XP_005262488.1  muscleblind-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_005262488.1

      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    8. XM_005262440.3XP_005262497.1  muscleblind-like protein 3 isoform X9

      See identical proteins and their annotated locations for XP_005262497.1

      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    9. XM_017029633.1XP_016885122.1  muscleblind-like protein 3 isoform X1

      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    10. XM_005262434.3XP_005262491.1  muscleblind-like protein 3 isoform X3

      See identical proteins and their annotated locations for XP_005262491.1

      UniProtKB/Swiss-Prot
      Q9NUK0
      Conserved Domains (1) summary
      smart00356
      Location:174200
      ZnF_C3H1; zinc finger
    11. XM_005262439.3XP_005262496.1  muscleblind-like protein 3 isoform X9

      See identical proteins and their annotated locations for XP_005262496.1

      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    12. XM_005262438.3XP_005262495.1  muscleblind-like protein 3 isoform X8

      Conserved Domains (1) summary
      smart00356
      Location:124150
      ZnF_C3H1; zinc finger
    13. XM_005262437.3XP_005262494.1  muscleblind-like protein 3 isoform X6

      Conserved Domains (1) summary
      smart00356
      Location:124150
      ZnF_C3H1; zinc finger
    14. XM_005262436.4XP_005262493.1  muscleblind-like protein 3 isoform X5

      Conserved Domains (1) summary
      smart00356
      Location:132158
      ZnF_C3H1; zinc finger
    15. XM_011531364.2XP_011529666.1  muscleblind-like protein 3 isoform X11

      Conserved Domains (1) summary
      smart00356
      Location:5682
      ZnF_C3H1; zinc finger
    16. XM_017029639.1XP_016885128.1  muscleblind-like protein 3 isoform X10

      UniProtKB/Swiss-Prot
      Q9NUK0
      Related
      ENSP00000406014.1, ENST00000436215.5
      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    17. XM_024452404.1XP_024308172.1  muscleblind-like protein 3 isoform X10

      Related
      ENSP00000402128.1, ENST00000421707.1
      Conserved Domains (1) summary
      smart00356
      Location:78104
      ZnF_C3H1; zinc finger
    18. XM_024452403.1XP_024308171.1  muscleblind-like protein 3 isoform X7

      Conserved Domains (1) summary
      smart00356
      Location:132158
      ZnF_C3H1; zinc finger
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