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MBNL1 muscleblind like splicing regulator 1 [ Gallus gallus (chicken) ]

Gene ID: 425033, updated on 10-Oct-2024

Summary

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Symbol
MBNL1provided by CGNC
Full Name
muscleblind like splicing regulator 1provided by CGNC
Primary source
CGNC:52321
See related
Ensembl:ENSGALG00010001104
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Gallus gallus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
Orthologs
human mouse all
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Genomic context

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See MBNL1 in Genome Data Viewer
Location:
chromosome: 9
Exon count:
15
Annotation release Status Assembly Chr Location
106 current bGalGal1.mat.broiler.GRCg7b (GCF_016699485.2) 9 NC_052540.1 (23087600..23135586, complement)
106 current bGalGal1.pat.whiteleghornlayer.GRCg7w (GCF_016700215.2) 9 NC_052581.1 (22872965..22920964, complement)

Chromosome 9 - NC_052540.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107054145 Neighboring gene purinergic receptor P2Y1 Neighboring gene uncharacterized LOC107054144 Neighboring gene uncharacterized LOC121111516 Neighboring gene succinate receptor 1 Neighboring gene microRNA 1754 Neighboring gene arylacetamide deacetylase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Muscleblind-like 1 is a negative regulator of TGF-beta-dependent epithelial-mesenchymal transition of atrioventricular canal endocardial cells. Vajda NA, et al. Dev Dyn, 2009 Dec. PMID 19890912, Free PMC Article
  2. Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFβ3. LeMasters KE, et al. BMC Dev Biol, 2012 Aug 6. PMID 22866814, Free PMC Article
  3. Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity. Terenzi F, et al. RNA Biol, 2010 Jan-Feb. PMID 20009516
  4. Developmental regulation of muscleblind-like (MBNL) gene expression in the chicken embryo retina. Huang H, et al. Dev Dyn, 2008 Jan. PMID 18095352
  5. Full-length cDNAs from chicken bursal lymphocytes to facilitate gene function analysis. Caldwell RB, et al. Genome Biol, 2005. PMID 15642098, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MBNL1 negatively regulates cell invasion in the endocardial cushions by restricting the magnitude and timing of endocardial-derived TGFbeta3 production.
    Title: Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFβ3.
  2. Conserved developmental stage- and tissue-specific alternative splicing of MBNL transcripts is an important mechanism by which MBNL activity is regulated during embryonic development.
    Title: Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity.
  3. A novel role for MBNL1 during embryonic development, an alternative splicing regulator as a key player in endocardial cushion development.
    Title: Muscleblind-like 1 is a negative regulator of TGF-beta-dependent epithelial-mesenchymal transition of atrioventricular canal endocardial cells.
  4. MBNL1 mRNAs were present throughout the retina, but the proteins was largely restricted to the periphery of the optic cup. MBNL1 immunoreactivity first appeared in their inner segments and became subsequently localized to their synaptic terminals.
    Title: Developmental regulation of muscleblind-like (MBNL) gene expression in the chicken embryo retina.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
muscleblind-like protein 1
Names
muscleblind-like 1

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.

mRNA and Protein(s)

  1. NM_001031322.4 → NP_001026493.1  muscleblind-like protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001026493.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame segment and an alternate in-frame exon compared to variant 1. The encoded isoform (4) is shorter compared to isoform 1.
    Source sequence(s)
    JAENSK010000240
    UniProtKB/Swiss-Prot
    Q5ZKW9
    UniProtKB/TrEMBL
    A0A8V0X6M4, A5HMN6
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  2. NM_001163324.3 → NP_001156796.1  muscleblind-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001156796.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    JAENSK010000240
    UniProtKB/TrEMBL
    A0A1D5PLP4, A0A8V0X6L9, A3F956, F1NBC8
    Related
    ENSGALP00010001061.1, ENSGALT00010002503.1
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  3. NM_001163325.3 → NP_001156797.1  muscleblind-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001156797.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    JAENSK010000240
    UniProtKB/TrEMBL
    A0A8V0X6L9, A1EA71
    Related
    ENSGALP00010001062.1, ENSGALT00010002505.1
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  4. NM_001163326.3 → NP_001156798.1  muscleblind-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001156798.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
    Source sequence(s)
    JAENSK010000240
    UniProtKB/TrEMBL
    A0A8V0X6M4, A5HMN4
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  5. NM_001163327.3 → NP_001156799.1  muscleblind-like protein 1 isoform 5

    See identical proteins and their annotated locations for NP_001156799.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an in-frame segment and two alternate exons in the 3' coding region that cause a frameshift compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    JAENSK010000240
    UniProtKB/TrEMBL
    A0A1D5PQI5, A0A8V0X9A0, A1EA72
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: Gallus gallus 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 bGalGal1.mat.broiler.GRCg7b Primary Assembly

Genomic

  1. NC_052540.1 Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

    Range
    23087600..23135586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_046898464.1 → XP_046754420.1  muscleblind-like protein 1 isoform X13

    UniProtKB/TrEMBL
    A0A8V0X948
    Related
    ENSGALP00010001068.1, ENSGALT00010002518.1

  2. XM_046898467.1 → XP_046754423.1  muscleblind-like protein 1 isoform X16

    Conserved Domains (1) summary
    smart00356
    Location:113 → 137
    ZnF_C3H1; zinc finger

  3. XM_046898463.1 → XP_046754419.1  muscleblind-like protein 1 isoform X12

  4. XM_046898462.1 → XP_046754418.1  muscleblind-like protein 1 isoform X11

  5. XM_046898460.1 → XP_046754416.1  muscleblind-like protein 1 isoform X9

  6. XM_046898468.1 → XP_046754424.1  muscleblind-like protein 1 isoform X17

  7. XM_046898466.1 → XP_046754422.1  muscleblind-like protein 1 isoform X15

    UniProtKB/TrEMBL
    A0A8V0X429
    Related
    ENSGALP00010001069.1, ENSGALT00010002519.1

  8. XM_046898465.1 → XP_046754421.1  muscleblind-like protein 1 isoform X14

  9. XM_046898461.1 → XP_046754417.1  muscleblind-like protein 1 isoform X10

    UniProtKB/TrEMBL
    A0A1D5PQI5, A1EA72
    Related
    ENSGALP00010001066.1, ENSGALT00010002516.1

  10. XM_025153389.3 → XP_025009157.1  muscleblind-like protein 1 isoform X5

    UniProtKB/Swiss-Prot
    Q5ZKW9
    UniProtKB/TrEMBL
    A0A8V0X6M4, A5HMN6
    Related
    ENSGALP00010001067.1, ENSGALT00010002517.1
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  11. XM_046898459.1 → XP_046754415.1  muscleblind-like protein 1 isoform X8

    UniProtKB/TrEMBL
    A0A8V0X426
    Related
    ENSGALP00010001064.1, ENSGALT00010002514.1

  12. XM_046898455.1 → XP_046754411.1  muscleblind-like protein 1 isoform X3

    UniProtKB/TrEMBL
    A5HMN4

  13. XM_046898458.1 → XP_046754414.1  muscleblind-like protein 1 isoform X7

  14. XM_046898454.1 → XP_046754410.1  muscleblind-like protein 1 isoform X2

    UniProtKB/TrEMBL
    A1EA71

  15. XM_046898457.1 → XP_046754413.1  muscleblind-like protein 1 isoform X6

  16. XM_025153384.3 → XP_025009152.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A0A8V0X6L9, A3F956, F1NBC8
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  17. XM_025153385.3 → XP_025009153.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A0A8V0X6L9, A3F956, F1NBC8
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  18. XM_025153383.3 → XP_025009151.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A0A8V0X6L9, A3F956, F1NBC8
    Conserved Domains (1) summary
    smart00356
    Location:180 → 204
    ZnF_C3H1; zinc finger

  19. XM_046898453.1 → XP_046754409.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A3F956, F1NBC8

  20. XM_040705592.2 → XP_040561526.2  muscleblind-like protein 1 isoform X4

Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Genomic

  1. NC_052581.1 Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

    Range
    22872965..22920964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_046923975.1 → XP_046779931.1  muscleblind-like protein 1 isoform X13

    UniProtKB/TrEMBL
    A0A8V0X948

  2. XM_046923978.1 → XP_046779934.1  muscleblind-like protein 1 isoform X16

    Conserved Domains (1) summary
    smart00356
    Location:113 → 137
    ZnF_C3H1; zinc finger

  3. XM_046923974.1 → XP_046779930.1  muscleblind-like protein 1 isoform X12

  4. XM_046923973.1 → XP_046779929.1  muscleblind-like protein 1 isoform X11

  5. XM_046923971.1 → XP_046779927.1  muscleblind-like protein 1 isoform X9

  6. XM_046923979.1 → XP_046779935.1  muscleblind-like protein 1 isoform X17

  7. XM_046923977.1 → XP_046779933.1  muscleblind-like protein 1 isoform X15

    UniProtKB/TrEMBL
    A0A8V0X429

  8. XM_046923976.1 → XP_046779932.1  muscleblind-like protein 1 isoform X14

  9. XM_046923972.1 → XP_046779928.1  muscleblind-like protein 1 isoform X10

    UniProtKB/TrEMBL
    A0A1D5PQI5, A1EA72

  10. XM_046923967.1 → XP_046779923.1  muscleblind-like protein 1 isoform X5

    UniProtKB/Swiss-Prot
    Q5ZKW9
    UniProtKB/TrEMBL
    A5HMN6

  11. XM_046923970.1 → XP_046779926.1  muscleblind-like protein 1 isoform X8

    UniProtKB/TrEMBL
    A0A8V0X426

  12. XM_046923965.1 → XP_046779921.1  muscleblind-like protein 1 isoform X3

    UniProtKB/TrEMBL
    A5HMN4

  13. XM_046923969.1 → XP_046779925.1  muscleblind-like protein 1 isoform X7

  14. XM_046923964.1 → XP_046779920.1  muscleblind-like protein 1 isoform X2

    UniProtKB/TrEMBL
    A1EA71

  15. XM_046923968.1 → XP_046779924.1  muscleblind-like protein 1 isoform X6

  16. XM_046923960.1 → XP_046779916.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A3F956, F1NBC8

  17. XM_046923962.1 → XP_046779918.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A3F956, F1NBC8

  18. XM_046923961.1 → XP_046779917.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A3F956, F1NBC8

  19. XM_046923963.1 → XP_046779919.1  muscleblind-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A1D5PLP4, A3F956, F1NBC8

  20. XM_046923966.1 → XP_046779922.1  muscleblind-like protein 1 isoform X4

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5ZKW9.1 GenPept UniProtKB/Swiss-Prot:Q5ZKW9

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