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

Gene ID: 55796, updated on 17-Jun-2019

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
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

Genomic context

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See MBNL3 in Genome Data Viewer
Location:
Xq26.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (132369314..132490035, 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

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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. 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
  3. 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
  4. Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. Squillace RM, et al. Dev Biol, 2002 Oct 1. PMID 12297108
  5. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Fardaei M, et al. Hum Mol Genet, 2002 Apr 1. PMID 11929853

See all (21) citations in PubMed

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. 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.
  2. MBNL3 was not found in human samples.
    Title: Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
  3. 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.
  4. results suggest that CHCR is an inhibitor of myogenesis
    Title: Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR.
  5. 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
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 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 
regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
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
    55279..125655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170701.2 → NP_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)
    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:124 → 150
    ZnF_C3H1; zinc finger

  2. NM_001170702.1 → NP_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:124 → 150
    ZnF_C3H1; zinc finger

  3. NM_001170703.1 → NP_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: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

    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)
    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_018388.3 → NP_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:174 → 200
    ZnF_C3H1; zinc finger

  6. NM_133486.2 → NP_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:174 → 200
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    132369314..132490035 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262441.3 → XP_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:78 → 104
    ZnF_C3H1; zinc finger

  2. XM_017029638.1 → XP_016885127.1  muscleblind-like protein 3 isoform X9

    Conserved Domains (1) summary
    smart00356
    Location:78 → 104
    ZnF_C3H1; zinc finger

  3. XM_017029636.1 → XP_016885125.1  muscleblind-like protein 3 isoform X3

    UniProtKB/Swiss-Prot
    Q9NUK0
    Conserved Domains (1) summary
    smart00356
    Location:174 → 200
    ZnF_C3H1; zinc finger

  4. XM_005262442.3 → XP_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:78 → 104
    ZnF_C3H1; zinc finger

  5. XM_024452402.1 → XP_024308170.1  muscleblind-like protein 3 isoform X4

    Related
    ENSP00000359894.3, ENST00000370857.7
    Conserved Domains (1) summary
    smart00356
    Location:174 → 200
    ZnF_C3H1; zinc finger

  6. XM_024452401.1 → XP_024308169.1  muscleblind-like protein 3 isoform X2

    Conserved Domains (1) summary
    smart00356
    Location:174 → 200
    ZnF_C3H1; zinc finger

  7. XM_005262431.3 → XP_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:174 → 200
    ZnF_C3H1; zinc finger

  8. XM_005262440.3 → XP_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:78 → 104
    ZnF_C3H1; zinc finger

  9. XM_017029633.1 → XP_016885122.1  muscleblind-like protein 3 isoform X1

    Conserved Domains (1) summary
    smart00356
    Location:174 → 200
    ZnF_C3H1; zinc finger

  10. XM_005262434.3 → XP_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:174 → 200
    ZnF_C3H1; zinc finger

  11. XM_005262439.3 → XP_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:78 → 104
    ZnF_C3H1; zinc finger

  12. XM_005262438.3 → XP_005262495.1  muscleblind-like protein 3 isoform X8

    Conserved Domains (1) summary
    smart00356
    Location:124 → 150
    ZnF_C3H1; zinc finger

  13. XM_005262437.3 → XP_005262494.1  muscleblind-like protein 3 isoform X6

    Conserved Domains (1) summary
    smart00356
    Location:124 → 150
    ZnF_C3H1; zinc finger

  14. XM_005262436.4 → XP_005262493.1  muscleblind-like protein 3 isoform X5

    Conserved Domains (1) summary
    smart00356
    Location:132 → 158
    ZnF_C3H1; zinc finger

  15. XM_011531364.2 → XP_011529666.1  muscleblind-like protein 3 isoform X11

    Conserved Domains (1) summary
    smart00356
    Location:56 → 82
    ZnF_C3H1; zinc finger

  16. XM_017029639.1 → XP_016885128.1  muscleblind-like protein 3 isoform X10

    UniProtKB/Swiss-Prot
    Q9NUK0
    Related
    ENSP00000406014.1, ENST00000436215.5
    Conserved Domains (1) summary
    smart00356
    Location:78 → 104
    ZnF_C3H1; zinc finger

  17. XM_024452404.1 → XP_024308172.1  muscleblind-like protein 3 isoform X10

    Related
    ENSP00000402128.1, ENST00000421707.1
    Conserved Domains (1) summary
    smart00356
    Location:78 → 104
    ZnF_C3H1; zinc finger

  18. XM_024452403.1 → XP_024308171.1  muscleblind-like protein 3 isoform X7

    Conserved Domains (1) summary
    smart00356
    Location:132 → 158
    ZnF_C3H1; zinc finger
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NUK0.2 GenPept UniProtKB/Swiss-Prot:Q9NUK0

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