CELF1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| CUGBP Elav-like family member 1 | MIM:601074 | Ensembl:ENSG00000149187 | HGNC:HGNC:2549 | PA27045 | 11p11.2 |
GO terms in CELF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | NAS | GO:0000900 | translation repressor activity, mRNA regulatory element binding |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003723 | RNA binding |
| MF | IDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003729 | mRNA binding |
| MF | IDA | GO:0003729 | mRNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0036002 | pre-mRNA binding |
| MF | IDA | GO:0042835 | BRE binding |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | HDA | GO:0016020 | membrane |
| CC | NAS | GO:1990904 | ribonucleoprotein complex |
| BP | IBA | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome |
| BP | IBA | GO:0006376 | mRNA splice site selection |
| BP | IDA | GO:0006376 | mRNA splice site selection |
| BP | ISS | GO:0006376 | mRNA splice site selection |
| BP | TAS | GO:0006397 | mRNA processing |
| BP | NAS | GO:0007281 | germ cell development |
| BP | NAS | GO:0009792 | embryo development ending in birth or egg hatching |
| BP | NAS | GO:0016246 | RNA interference |
| BP | IEA | GO:0017148 | negative regulation of translation |
| BP | IDA | GO:0043484 | regulation of RNA splicing |
Gene expression in normal tissue: CELF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CELF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP411 | mRNA Processing |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CELF1
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