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 |
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 |
|
Sequence length |
486 |
Interactions |
View interactions
|
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, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 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 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
37445828 |
Esophageal Neoplasms |
Associate
|
26234674 |
Feeding and Eating Disorders |
Associate
|
34579086 |
Fractures Spontaneous |
Associate
|
33419465 |
Glioma |
Stimulate
|
26535026 |
Leukemia Myeloid Acute |
Inhibit
|
17854664 |
Melanoma |
Associate
|
29269732 |
Mouth Neoplasms |
Associate
|
23324604 |
Muscle Neoplasms |
Associate
|
24376746 |
Muscular Atrophy |
Associate
|
23637619 |
Myotonic Dystrophy |
Associate
|
11564876, 16946708, 21439371, 21889481, 23637619, 24376746, 24824895, 27222292, 33093470, 35767654, 37445828, 8948631 |
Myotonic Dystrophy |
Stimulate
|
12150906, 15546872 |
Neoplasm Invasiveness |
Associate
|
26728670 |
Neoplasms |
Associate
|
21637851, 23324604, 35973378 |
Neoplasms |
Stimulate
|
22646166 |
Neoplasms Squamous Cell |
Associate
|
26234674 |
Sarcoma Ewing |
Associate
|
10866799 |
|