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

Gene ID: 55796, updated on 21-Dec-2022

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
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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
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (132369320..132490035, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130693540..130814705, complement)
105.20220307 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 AGK pseudogene 2 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

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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. 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
  5. Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Squillace RM, et al. Dev Biol, 2002 Oct 1. PMID 12297108

See all (25) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

Genotypes

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 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 IDA
Inferred from Direct Assay
more info
 PubMed 

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
    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
    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/Swiss-Prot
    Q9NUK0
    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/Swiss-Prot
    Q9NUK0
    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
    Q9UF37
    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
    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
    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
    Q9UF37
    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
    Q9UF37
    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
    Q9UF37
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    Q9NUK0, Q9UF37
    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/Swiss-Prot
    Q9NUK0
    Related
    ENSP00000359876.3, ENST00000370839.7
    Conserved Domains (1) summary
    smart00356
    Location:174 → 200
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Gene LinkOut

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