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MBNL1 muscleblind-like splicing regulator 1 [ Homo sapiens (human) ]

Gene ID: 4154, updated on 29-Jul-2014
Official Symbol
MBNL1provided by HGNC
Official Full Name
muscleblind-like splicing regulator 1provided by HGNC
Primary source
HGNC:6923
See related
Ensembl:ENSG00000152601; HPRD:07355; MIM:606516; Vega:OTTHUMG00000159163
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EXP; MBNL; EXP35; EXP40; EXP42
See MBNL1 in Epigenomics, MapViewer
Location:
3q25
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (152244321..152465780)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151962120..152183569)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene AADACL2 antisense RNA 1 Neighboring gene succinate receptor 1 Neighboring gene uncharacterized LOC101928166 Neighboring gene MBNL1 antisense RNA 1 Neighboring gene transmembrane protein 14E Neighboring gene uncharacterized LOC102724289 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
NHGRI GWA Catalog
  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0428, DKFZp686P06174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA splice site selection IEA
Inferred from Electronic Annotation
more info
 
myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
muscleblind-like protein 1
Names
muscleblind-like protein 1
triplet-expansion RNA-binding protein

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_021038.3NP_066368.2  muscleblind-like protein 1 isoform a

    See proteins identical to NP_066368.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the more frequently occurring transcript and it encodes isoform a. Another name for this transcript is MBNL1subscript41.
    Source sequence(s)
    AB007888, AI971426, AW204030, BC043493, BM686432
    Consensus CDS
    CCDS3163.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000319429, OTTHUMP00000214228, ENST00000324210, OTTHUMT00000353602
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 94
    ZnF_C3H1; zinc finger
  2. NM_207292.1NP_997175.1  muscleblind-like protein 1 isoform b

    See proteins identical to NP_997175.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding region segment, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a. Other names for this transcript are MBNL1subscript40 and hEXP40.
    Source sequence(s)
    AB007888, AI971426, AW204030, BC043493
    Consensus CDS
    CCDS3164.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000347637, OTTHUMP00000214226, ENST00000355460, OTTHUMT00000353599
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 94
    ZnF_C3H1; zinc finger
  3. NM_207293.1NP_997176.1  muscleblind-like protein 1 isoform c

    See proteins identical to NP_997176.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains one alternate in-frame segment and lacks a second alternate in-frame segment in the coding region, compared to variant 1. The resulting protein (isoform c) is longer than isoform a. Other names for this transcript are MBNL1subscript42 and hEXP42.
    Source sequence(s)
    AB007888, Y13829
    Consensus CDS
    CCDS3165.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000418108, OTTHUMP00000214229, ENST00000463374, OTTHUMT00000353604
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 95
    ZnF_C3H1; zinc finger
  4. NM_207294.1NP_997177.1  muscleblind-like protein 1 isoform d

    See proteins identical to NP_997177.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame coding region segments, compared to variant 1. The resulting protein (isoform d) is shorter than isoform a. Other names for this transcript are hEXP35 and MBNL1subscript35.
    Source sequence(s)
    AB007888, AF255334, Y13829
    Consensus CDS
    CCDS54656.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000418427, OTTHUMP00000214231, ENST00000485910, OTTHUMT00000353606
    Conserved Domains (1) summary
    smart00356
    Location:113137
    Blast Score: 90
    ZnF_C3H1; zinc finger
  5. NM_207295.1NP_997178.1  muscleblind-like protein 1 isoform e

    See proteins identical to NP_997178.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks one alternate in-frame coding region segment, compared to variant 1. The resulting protein (isoform e) is shorter than isoform a. Another name for this transcript is MBNL1subscript36.
    Source sequence(s)
    AB007888, AF395876, BQ223290, Y13829
    Consensus CDS
    CCDS3166.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000437491, ENST00000545754
    Conserved Domains (1) summary
    smart00356
    Location:113137
    Blast Score: 91
    ZnF_C3H1; zinc finger
  6. NM_207296.1NP_997179.1  muscleblind-like protein 1 isoform f

    See proteins identical to NP_997179.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks two adjacent segments and includes an alternate segment in the coding region, compared to variant 1. The reading frame is disrupted within this region of the transcript. The resulting isoform (f) is shorter than isoform a. Another name for this transcript is MBNL1subscript40S.
    Source sequence(s)
    AB007888, AF497718, BQ223290, Y13829
    Consensus CDS
    CCDS3167.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000319374, ENST00000324196
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 90
    ZnF_C3H1; zinc finger
  7. NM_207297.1NP_997180.1  muscleblind-like protein 1 isoform g

    See proteins identical to NP_997180.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate coding region segment, compared to variant 1, that results in a frameshift. The resulting protein (isoform g) has a shorter and distinct C-terminus when compared to isoform a. Another name for this transcript is MBNL1subscript41S.
    Source sequence(s)
    AB007888, AF497719, BQ223290, Y13829
    Consensus CDS
    CCDS3168.1
    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000350064, ENST00000357472
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 91
    ZnF_C3H1; zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    152244321..152465780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247475.2XP_005247532.1  

    See proteins identical to XP_005247532.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    Blast Score: 102
    ZnF_C3H1; zinc finger
  2. XM_006713639.1XP_006713702.1  

    See proteins identical to XP_006713702.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 94
    ZnF_C3H1; zinc finger
  3. XM_005247457.2XP_005247514.1  

    See proteins identical to XP_005247514.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 94
    ZnF_C3H1; zinc finger
  4. XM_005247465.2XP_005247522.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 90
    ZnF_C3H1; zinc finger
  5. XM_005247461.2XP_005247518.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 94
    ZnF_C3H1; zinc finger
  6. XM_005247467.2XP_005247524.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 90
    ZnF_C3H1; zinc finger
  7. XM_005247462.2XP_005247519.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 93
    ZnF_C3H1; zinc finger
  8. XM_005247463.2XP_005247520.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 93
    ZnF_C3H1; zinc finger
  9. XM_005247468.2XP_005247525.1  

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 90
    ZnF_C3H1; zinc finger
  10. XM_005247464.2XP_005247521.1  

    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 95
    ZnF_C3H1; zinc finger
  11. XM_005247466.2XP_005247523.1  

    See proteins identical to XP_005247523.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Related
    ENSP00000282486
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 95
    ZnF_C3H1; zinc finger
  12. XM_005247471.2XP_005247528.1  

    See proteins identical to XP_005247528.1

    UniProtKB/Swiss-Prot
    Q9NR56
    Conserved Domains (1) summary
    smart00356
    Location:181205
    Blast Score: 91
    ZnF_C3H1; zinc finger
  13. XM_005247472.2XP_005247529.1  

    See proteins identical to XP_005247529.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    Blast Score: 102
    ZnF_C3H1; zinc finger
  14. XM_005247469.2XP_005247526.1  

    See proteins identical to XP_005247526.1

    Conserved Domains (1) summary
    smart00356
    Location:125149
    Blast Score: 99
    ZnF_C3H1; zinc finger
  15. XM_005247474.2XP_005247531.1  

    See proteins identical to XP_005247531.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    Blast Score: 102
    ZnF_C3H1; zinc finger
  16. XM_005247476.2XP_005247533.1  

    See proteins identical to XP_005247533.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    Blast Score: 102
    ZnF_C3H1; zinc finger
  17. XM_006713641.1XP_006713704.1  

    See proteins identical to XP_006713704.1

    Conserved Domains (1) summary
    smart00356
    Location:125149
    Blast Score: 99
    ZnF_C3H1; zinc finger
  18. XM_005247477.2XP_005247534.1  

    See proteins identical to XP_005247534.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    Blast Score: 102
    ZnF_C3H1; zinc finger
  19. XM_005247460.2XP_005247517.1  

    See proteins identical to XP_005247517.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 94
    ZnF_C3H1; zinc finger
  20. XM_005247459.2XP_005247516.1  

    See proteins identical to XP_005247516.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 94
    ZnF_C3H1; zinc finger
  21. XM_005247458.2XP_005247515.1  

    See proteins identical to XP_005247515.1

    Conserved Domains (1) summary
    smart00356
    Location:212236
    Blast Score: 94
    ZnF_C3H1; zinc finger
  22. XM_006713640.1XP_006713703.1  

    See proteins identical to XP_006713703.1

    Conserved Domains (1) summary
    smart00356
    Location:125149
    Blast Score: 99
    ZnF_C3H1; zinc finger
  23. XM_005247473.1XP_005247530.1  

    See proteins identical to XP_005247530.1

    Conserved Domains (1) summary
    smart00356
    Location:89113
    Blast Score: 102
    ZnF_C3H1; zinc finger
  24. XM_005247470.1XP_005247527.1  

    See proteins identical to XP_005247527.1

    UniProtKB/TrEMBL
    Q86VM6
    Related
    ENSP00000419347, OTTHUMP00000214227, ENST00000493459, OTTHUMT00000353601
    Conserved Domains (1) summary
    smart00356
    Location:124148
    Blast Score: 99
    ZnF_C3H1; zinc finger

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    149377001..149574674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    151948828..152146588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)