Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10658
Gene name Gene Name - the full gene name approved by the HGNC.
CUGBP Elav-like family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CELF1
Synonyms (NCBI Gene) Gene synonyms aliases
BRUNOL2, CUG-BP, CUGBP, CUGBP1, EDEN-BP, NAB50, NAPOR, hNab50
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez 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-mR
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040833 hsa-miR-18a-3p CLASH 23622248
MIRT036047 hsa-miR-1301-3p CLASH 23622248
MIRT725582 hsa-miR-6835-3p HITS-CLIP 19536157
MIRT725581 hsa-miR-330-3p HITS-CLIP 19536157
MIRT725580 hsa-miR-141-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000900 Function Translation repressor activity, mRNA regulatory element binding NAS 10893231
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0003723 Function RNA binding IDA 16946708
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601074 2549 ENSG00000149187
Protein
UniProt ID Q92879
Protein name CUGBP Elav-like family member 1 (CELF-1) (50 kDa nuclear polyadenylated RNA-binding protein) (Bruno-like protein 2) (CUG triplet repeat RNA-binding protein 1) (CUG-BP1) (CUG-BP- and ETR-3-like factor 1) (Deadenylation factor CUG-BP) (Embryo deadenylation
Protein function RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-s
PDB 2CPZ , 2DHS , 2RQ4 , 2RQC , 3NMR , 3NNA , 3NNC , 3NNH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 18 88 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 110 178 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 403 473 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10893231, ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:16862542}.
Sequence
MNGTLDHPDQPDLDAIKMFVGQVPRTWSEKDLRELFEQYGAVYEINVLRDRSQNPPQSKG
CCFVTFYTRKAALEAQNALHNMKVLPGM
HHPIQMKPADSEKNNAVEDRKLFIGMISKKCT
ENDIRVMFSSFGQIEECRILRGPDGLSRGCAFVTFTTRAMAQTAIKAMHQAQTMEGCS
SP
MVVKFADTQKDKEQKRMAQQLQQQMQQISAASVWGNLAGLNTLGPQYLALYLQLLQQTAS
SGNLNTLSSLHPMGGLNAMQLQNLAALAAAASAAQNTPSGTNALTTSSSPLSVLTSSGSS
PSSSSSNSVNPIASLGALQTLAGATAGLNVGSLAGMAALNGGLGSSGLSNGTGSTMEALT
QAYSGIQQYAAAALPTLYNQNLLTQQSIGAAGSQKEGPEGANLFIYHLPQEFGDQDLLQM
FMPFGNVVSAKVFIDKQTNLSKCFGFVSYDNPVSAQAAIQSMNGFQIGMKRLK
VQLKRSK
NDSKPY
Sequence length 486
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
24162737
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 26728670
Alzheimer Disease Associate 26004081, 26919393, 28005991, 28199971, 31262699, 31561366, 32062565
Breast Neoplasms Associate 31958132
Carcinogenesis Associate 25619475, 26535026
Carcinoma Hepatocellular Associate 29036189
Carcinoma Non Small Cell Lung Stimulate 25619475
Carcinoma Squamous Cell Associate 34697393
Cardiomyopathies Associate 26811534
Central Nervous System Diseases Associate 37445828
Dental Caries Associate 31148553