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

    Gene ID: 55796, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:20564
    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
    mouse all
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    Genomic context

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    See MBNL3 in Genome Data Viewer
    Location:
    Xq26.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (132369320..132490035, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130693540..130814705, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131503348..131624063, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:131295346-131295904 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:131295905-131296461 Neighboring gene AGK pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29972 Neighboring gene NANOG hESC enhancer GRCh37_chrX:131357781-131358310 Neighboring gene Sharpr-MPRA regulatory region 7036 Neighboring gene RAP2C antisense RNA 1 Neighboring gene RAP2C, member of RAS oncogene family Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:131423741-131424940 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:131545832-131546540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21007 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:131625860-131627059 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3. Self JE, et al. Mol Vis, 2006 Oct 18. PMID 17102799
    2. KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion. Oladimeji PO, et al. Sci Rep, 2020 Jan 30. PMID 32001790, Free PMC Article
    3. The MBNL3 splicing factor promotes hepatocellular carcinoma by increasing PXN expression through the alternative splicing of lncRNA-PXN-AS1. Yuan JH, et al. Nat Cell Biol, 2017 Jul. PMID 28553938
    4. Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Squillace RM, et al. Dev Biol, 2002 Oct 1. PMID 12297108
    5. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. Holt I, et al. Am J Pathol, 2009 Jan. PMID 19095965, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion.
      Title: KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion.
    2. The MBNL3 splicing factor promotes hepatocellular carcinoma by increasing pacillin expression through the alternative splicing of lncRNA-PXN-AS1.
      Title: The MBNL3 splicing factor promotes hepatocellular carcinoma by increasing PXN expression through the alternative splicing of lncRNA-PXN-AS1.
    3. MBNL3 was not found in human samples.
      Title: Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
    4. We exclude MBNL3 as the causative gene in this family.
      Title: Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.
    5. results suggest that CHCR is an inhibitor of myogenesis
      Title: Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR.
    6. MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons
      Title: Muscleblind proteins regulate alternative splicing.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11316, FLJ97142

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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

    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.

    Genomic

    1. NG_016324.2 RefSeqGene

      Range
      5931..125649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170701.3 → NP_001164172.2  muscleblind-like protein 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL050310
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Related
      ENSP00000359886.3, ENST00000370849.7
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    2. NM_001170702.3 → NP_001164173.2  muscleblind-like protein 3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL050310
      Consensus CDS
      CCDS55493.1
      UniProtKB/TrEMBL
      B1AKI4
      Related
      ENSP00000439618.1, ENST00000538204.6
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    3. NM_001170703.2 → NP_001164174.1  muscleblind-like protein 3 isoform 5

      See identical proteins and their annotated locations for NP_001164174.1

      Status: REVIEWED

      Source sequence(s)
      AK300248, AL050310, AW665447, AY072692, DA832176, DB023330
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Related
      ENSP00000377848.2, ENST00000394311.7
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    4. NM_001170704.2 → NP_001164175.1  muscleblind-like protein 3 isoform 5

      See identical proteins and their annotated locations for NP_001164175.1

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442, AW665447, AY072692, BC042090, DA832176, DC380677
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Related
      ENSP00000359881.1, ENST00000370844.5
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    5. NM_001386889.1 → NP_001373818.1  muscleblind-like protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS14633.1
      UniProtKB/Swiss-Prot
      Q5JXN8, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9NUK0, Q9UF37
      UniProtKB/TrEMBL
      B1AKI2
      Related
      ENSP00000359890.3, ENST00000370853.8
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    6. NM_001386891.1 → NP_001373820.1  muscleblind-like protein 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    7. NM_001386892.1 → NP_001373821.1  muscleblind-like protein 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    8. NM_001386894.1 → NP_001373823.1  muscleblind-like protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS14633.1
      UniProtKB/Swiss-Prot
      Q5JXN8, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9NUK0, Q9UF37
      UniProtKB/TrEMBL
      B1AKI2
      Related
      ENSP00000513866.1, ENST00000698664.1
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    9. NM_001386896.1 → NP_001373825.1  muscleblind-like protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS14633.1
      UniProtKB/Swiss-Prot
      Q5JXN8, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9NUK0, Q9UF37
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    10. NM_001386897.1 → NP_001373826.1  muscleblind-like protein 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS14633.1
      UniProtKB/Swiss-Prot
      Q5JXN8, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9NUK0, Q9UF37
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    11. NM_001386898.1 → NP_001373827.1  muscleblind-like protein 3 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    12. NM_001386899.1 → NP_001373828.1  muscleblind-like protein 3 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    13. NM_001386900.1 → NP_001373829.1  muscleblind-like protein 3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL050310
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    14. NM_001386901.1 → NP_001373830.1  muscleblind-like protein 3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    15. NM_001386902.1 → NP_001373831.1  muscleblind-like protein 3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    16. NM_001386907.1 → NP_001373836.1  muscleblind-like protein 3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    17. NM_001386909.1 → NP_001373838.1  muscleblind-like protein 3 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    18. NM_001386910.1 → NP_001373839.1  muscleblind-like protein 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Related
      ENSP00000406014.1, ENST00000436215.5
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    19. NM_001386911.1 → NP_001373840.1  muscleblind-like protein 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Related
      ENSP00000402128.1, ENST00000421707.1
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    20. NM_001386912.1 → NP_001373841.1  muscleblind-like protein 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    21. NM_001386913.1 → NP_001373842.1  muscleblind-like protein 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS55492.1
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    22. NM_001386914.1 → NP_001373843.1  muscleblind-like protein 3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS55493.1
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    23. NM_001386915.1 → NP_001373844.1  muscleblind-like protein 3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS55493.1
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    24. NM_001386916.1 → NP_001373845.1  muscleblind-like protein 3 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:56 → 82
      ZnF_C3H1; zinc finger

    25. NM_001386917.1 → NP_001373846.1  muscleblind-like protein 3 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      UniProtKB/TrEMBL
      B1AKI4
      Conserved Domains (1) summary
      smart00356
      Location:78 → 104
      ZnF_C3H1; zinc finger

    26. NM_001386918.1 → NP_001373847.1  muscleblind-like protein 3 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442

    27. NM_018388.4 → NP_060858.2  muscleblind-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_060858.2

      Status: REVIEWED

      Source sequence(s)
      AL050310, AL161442
      Consensus CDS
      CCDS14633.1
      UniProtKB/Swiss-Prot
      Q5JXN8, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9NUK0, Q9UF37
      UniProtKB/TrEMBL
      B1AKI2
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    28. NM_133486.4 → NP_597846.1  muscleblind-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_597846.1

      Status: REVIEWED

      Source sequence(s)
      AL050310
      Consensus CDS
      CCDS14634.1
      UniProtKB/TrEMBL
      B1AKI2
      Related
      ENSP00000359876.3, ENST00000370839.7
      Conserved Domains (1) summary
      smart00356
      Location:174 → 200
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      132369320..132490035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442251.1 → XP_047298207.1  muscleblind-like protein 3 isoform X3

    2. XM_024452403.2 → XP_024308171.1  muscleblind-like protein 3 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNS0, B1AKI2
      Related
      ENSP00000513826.1, ENST00000473364.2
      Conserved Domains (1) summary
      smart00356
      Location:132 → 158
      ZnF_C3H1; zinc finger

    3. XM_047442250.1 → XP_047298206.1  muscleblind-like protein 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      130693540..130814705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327386.1 → XP_054183361.1  muscleblind-like protein 3 isoform X5

      UniProtKB/TrEMBL
      B1AKI6

    2. XM_054327389.1 → XP_054183364.1  muscleblind-like protein 3 isoform X3

    3. XM_054327385.1 → XP_054183360.1  muscleblind-like protein 3 isoform X4

      UniProtKB/Swiss-Prot
      Q5JXN8, Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9NUK0, Q9UF37

    4. XM_054327388.1 → XP_054183363.1  muscleblind-like protein 3 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNS0

    5. XM_054327387.1 → XP_054183362.1  muscleblind-like protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUK0.2 GenPept UniProtKB/Swiss-Prot:Q9NUK0

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