CUGBP1

CELF1

Available structures

Human UniProt search: PDBe RCSB

List of PDB id codes
2CPZ, 2DHS, 2RQ4, 2RQC, 3NMR, 3NNA, 3NNC, 3NNH

Identifiers

Aliases

CELF1, BRUNOL2, CUG-BP, CUGBP, CUGBP1, EDEN-BP, NAB50, NAPOR, hNab50, CUGBP, Elav-like family member 1

External IDs

HomoloGene: 136342 GeneCards: CELF1

Genetically Related Diseases

Alzheimer's disease

Gene ontology
Molecular function	• translation repressor activity, nucleic acid binding • protein binding • RNA binding • nucleic acid binding • BRE binding • mRNA binding
Cellular component	• cytoplasm • membrane • intracellular ribonucleoprotein complex • nucleoplasm • nucleus
Biological process	• germ cell development • embryo development • mRNA processing • RNA interference • regulation of RNA splicing • RNA splicing • negative regulation of translation • mRNA splice site selection
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


10658


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Ensembl


ENSG00000149187


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UniProt


Q92879


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RefSeq (mRNA)

NM_001025596 NM_001172639 NM_001172640 NM_006560 NM_198700
NM_001330272


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RefSeq (protein)

NP_001020767 NP_001166110 NP_001166111 NP_001317201 NP_006551
NP_941989


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Location (UCSC)

Chr 11: 47.47 – 47.57 Mb

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PubMed search

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2CPZ, 2DHS, 2RQ4, 2RQC, 3NMR, 3NNA, 3NNC, 3NNH

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CUG triplet repeat, RNA binding protein 1, also known as CUGBP1, is a protein which in humans is encoded by the CUGBP1 gene.

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.

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