CELF1 - CUGBP Elav-like family member 1 Gene
Also Known as CUGBP; NAB50; NAPOR; CUG-BP; CUGBP1; hNab50; BRUNOL2; EDEN-BP
Species: Homo sapiens
About CELF1
This gene has 22 transcripts (splice variants), 220 orthologues and 6 paralogues. Ubiquitous expression in lymph node (RPKM 13.4), spleen (RPKM 12.7) and 25 other tissues.
Summary
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CELF1 Products (91)
| mRNA | Protein | Name |
|---|---|---|
| NM_001025596.3 | NP_001020767.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001172639.2 | NP_001166110.1 | CUGBP Elav-like family member 1 isoform 4 |
| NM_001172640.2 | NP_001166111.1 | CUGBP Elav-like family member 1 isoform 5 |
| NM_001330272.2 | NP_001317201.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376369.1 | NP_001363298.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376370.1 | NP_001363299.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376371.1 | NP_001363300.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376372.1 | NP_001363301.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376373.1 | NP_001363302.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376374.1 | NP_001363303.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376375.1 | NP_001363304.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376376.1 | NP_001363305.1 | CUGBP Elav-like family member 1 isoform 6 |
| NM_001376377.1 | NP_001363306.1 | CUGBP Elav-like family member 1 isoform 7 |
| NM_001376378.1 | NP_001363307.1 | CUGBP Elav-like family member 1 isoform 7 |
| NM_001376379.1 | NP_001363308.1 | CUGBP Elav-like family member 1 isoform 7 |
| NM_001376380.1 | NP_001363309.1 | CUGBP Elav-like family member 1 isoform 7 |
| NM_001376381.1 | NP_001363310.1 | CUGBP Elav-like family member 1 isoform 7 |
| NM_001376382.1 | NP_001363311.1 | CUGBP Elav-like family member 1 isoform 24 |
| NM_001376383.1 | NP_001363312.1 | CUGBP Elav-like family member 1 isoform 7 |
| NM_001376384.1 | NP_001363313.1 | CUGBP Elav-like family member 1 isoform 4 |
| NM_001376385.1 | NP_001363314.1 | CUGBP Elav-like family member 1 isoform 8 |
| NM_001376386.1 | NP_001363315.1 | CUGBP Elav-like family member 1 isoform 8 |
| NM_001376387.1 | NP_001363316.1 | CUGBP Elav-like family member 1 isoform 9 |
| NM_001376388.1 | NP_001363317.1 | CUGBP Elav-like family member 1 isoform 9 |
| NM_001376389.1 | NP_001363318.1 | CUGBP Elav-like family member 1 isoform 9 |
| NM_001376390.1 | NP_001363319.1 | CUGBP Elav-like family member 1 isoform 9 |
| NM_001376391.1 | NP_001363320.1 | CUGBP Elav-like family member 1 isoform 9 |
| NM_001376393.1 | NP_001363322.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376395.1 | NP_001363324.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376396.1 | NP_001363325.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376397.1 | NP_001363326.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376399.1 | NP_001363328.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376406.1 | NP_001363335.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376407.1 | NP_001363336.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376408.1 | NP_001363337.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376409.1 | NP_001363338.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376410.1 | NP_001363339.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376411.1 | NP_001363340.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376412.1 | NP_001363341.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376413.1 | NP_001363342.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376414.1 | NP_001363343.1 | CUGBP Elav-like family member 1 isoform 10 |
| NM_001376415.1 | NP_001363344.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376417.1 | NP_001363346.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376418.1 | NP_001363347.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376419.1 | NP_001363348.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376420.1 | NP_001363349.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376421.1 | NP_001363350.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376422.1 | NP_001363351.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376423.1 | NP_001363352.1 | CUGBP Elav-like family member 1 isoform 23 |
| NM_001376424.1 | NP_001363353.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376425.1 | NP_001363354.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376426.1 | NP_001363355.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376427.1 | NP_001363356.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376428.1 | NP_001363357.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376429.1 | NP_001363358.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376430.1 | NP_001363359.1 | CUGBP Elav-like family member 1 isoform 3 |
| NM_001376431.1 | NP_001363360.1 | CUGBP Elav-like family member 1 isoform 5 |
| NM_001376432.1 | NP_001363361.1 | CUGBP Elav-like family member 1 isoform 11 |
| NM_001376433.1 | NP_001363362.1 | CUGBP Elav-like family member 1 isoform 11 |
| NM_001376434.1 | NP_001363363.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376435.1 | NP_001363364.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376436.1 | NP_001363365.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376437.1 | NP_001363366.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376438.1 | NP_001363367.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376439.1 | NP_001363368.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376440.1 | NP_001363369.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376441.1 | NP_001363370.1 | CUGBP Elav-like family member 1 isoform 2 |
| NM_001376442.1 | NP_001363371.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376443.1 | NP_001363372.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376444.1 | NP_001363373.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376445.1 | NP_001363374.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376446.1 | NP_001363375.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376447.1 | NP_001363376.1 | CUGBP Elav-like family member 1 isoform 22 |
| NM_001376448.1 | NP_001363377.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376449.1 | NP_001363378.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_001376450.1 | NP_001363379.1 | CUGBP Elav-like family member 1 isoform 12 |
| NM_001376451.1 | NP_001363380.1 | CUGBP Elav-like family member 1 isoform 13 |
| NM_001376452.1 | NP_001363381.1 | CUGBP Elav-like family member 1 isoform 14 |
| NM_001376453.1 | NP_001363382.1 | CUGBP Elav-like family member 1 isoform 15 |
| NM_001376454.1 | NP_001363383.1 | CUGBP Elav-like family member 1 isoform 16 |
| NM_001376455.1 | NP_001363384.1 | CUGBP Elav-like family member 1 isoform 25 |
| NM_001376456.1 | NP_001363385.1 | CUGBP Elav-like family member 1 isoform 17 |
| NM_001376457.1 | NP_001363386.1 | CUGBP Elav-like family member 1 isoform 17 |
| NM_001376458.1 | NP_001363387.1 | CUGBP Elav-like family member 1 isoform 18 |
| NM_001376459.1 | NP_001363388.1 | CUGBP Elav-like family member 1 isoform 19 |
| NM_001376460.1 | NP_001363389.1 | CUGBP Elav-like family member 1 isoform 19 |
| NM_001376461.1 | NP_001363390.1 | CUGBP Elav-like family member 1 isoform 20 |
| NM_001376462.1 | NP_001363391.1 | CUGBP Elav-like family member 1 isoform 20 |
| NM_001376463.1 | NP_001363392.1 | CUGBP Elav-like family member 1 isoform 21 |
| NM_006560.4 | NP_006551.1 | CUGBP Elav-like family member 1 isoform 1 |
| NM_198700.3 | NP_941989.1 | CUGBP Elav-like family member 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables BRE binding |
IDA
IDA: Inferred from direct assay
|
10893231 | GOA |
| enables RNA binding |
IDA
IDA: Inferred from direct assay
|
16946708 | GOA |
| enables mRNA 3'-UTR binding |
IDA
IDA: Inferred from direct assay
|
30508596 | GOA |
| enables mRNA binding |
IDA
IDA: Inferred from direct assay
|
14726956 | GOA |
| enables pre-mRNA binding |
IDA
IDA: Inferred from direct assay
|
11158314 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16946708 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mRNA splice site recognition |
IDA
IDA: Inferred from direct assay
|
11158314 | GOA |
| acts upstream of or within negative regulation of gene expression |
IMP
IMP: Inferred from mutant phenotype
|
27230130 | GOA |
| acts upstream of or within positive regulation of gene expression |
IMP
IMP: Inferred from mutant phenotype
|
26366374 | GOA |
| involved in post-transcriptional gene silencing |
IDA
IDA: Inferred from direct assay
|
30508596 | GOA |
| involved in regulation of RNA splicing |
IDA
IDA: Inferred from direct assay
|
16946708 | GOA |
| acts upstream of or within regulation of inflammatory response |
IMP
IMP: Inferred from mutant phenotype
|
27230130 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasmic stress granule |
IDA
IDA: Inferred from direct assay
|
18164289 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11158314 | GOA |
| located in perinucleolar compartment |
IDA
IDA: Inferred from direct assay
|
18164289 | GOA |
CELF1 Protein Structure
RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (19 - 84)
RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (110 - 175)
RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (403 - 472)
- 0
- 100
- 200
- 300
- 400
- 486 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
CUGBP Elav-like family member 1 |
|
CELF1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83061 | CUG BP1 Antibody (YA2806) | WB, IHC-P, ICC/IF, FC, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myotonic Dystrophy 1 |
|
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| Myotonic Disease |
|
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| Myotonic Dystrophy 2 |
|
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| X-Linked Hereditary Ataxia |
|
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| Fragile X-Associated Tremor/Ataxia Syndrome |
|
|
| Spinocerebellar Ataxia 8 |
|
|
| Huntington Disease-Like 2 |
|
|
| Muscular Dystrophy |
|
|
| Oculopharyngeal Muscular Dystrophy |
|
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| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
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| Lens Disease |
|
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| Neuromuscular Disease |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
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| Myopathy |
|
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| Type 2 Diabetes Mellitus |
|
|
| Dilated Cardiomyopathy |
|
|