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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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
CELF6 (CUGBP Elav-Like Family Member 6) is a Protein Coding gene. Diseases associated with CELF6 include Atrial Septal Defect 1 and Optic Nerve Neoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ENSG00000273025.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IBA,NAS | 14761971 |
GO:0003729 | mRNA binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,NAS | 14761971 |
GO:0005737 | cytoplasm | IBA,NAS | 14761971 |
GO:1990904 | ribonucleoprotein complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IDA | 14761971 |
GO:0006376 | mRNA splice site selection | IBA | 21873635 |
GO:0006397 | mRNA processing | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Celf6 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | CELF6 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | bru-3 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-75 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8737 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712168 | Benign: not provided | 72,319,756(-) | A/G | MISSENSE_VARIANT | |
713185 | Benign: not provided | 72,288,458(-) | G/A | INTRON_VARIANT | |
757539 | Benign: not provided | 72,319,783(-) | C/A | MISSENSE_VARIANT | |
791641 | Likely Benign: not provided | 72,289,162(-) | T/G | MISSENSE_VARIANT | |
rs774435160 | Likely Benign: not specified | 72,304,807(-) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1131199 | CNV | deletion | 24896259 |
nsv1601 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
atrial septal defect 1 |
|
|
optic nerve neoplasm |
|
|
autism |
|
|