|
Gene id |
10658 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CELF1 Gene UCSC Ensembl |
|
Aliases |
BRUNOL2, CUG-BP, CUGBP, CUGBP1, EDEN-BP, NAB50, NAPOR, hNab50 |
|
Gene name |
CUGBP Elav-like family member 1 |
|
Alternate names |
CUGBP Elav-like family member 1, 50 kDa nuclear polyadenylated RNA-binding protein, CELF-1, CUG RNA-binding protein, CUG triplet repeat RNA-binding protein 1, CUG-BP- and ETR-3-like factor 1, CUG-BP1, EDEN-BP homolog, RNA-binding protein BRUNOL-2, bruno-like 2, bru, |
|
Gene location |
11p11.2 (47565568: 47465936) Exons: 21 NC_000068.7
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
601074 |
|
| Associated diseases |
References |
| May cause delay in germ cell differentiation | MIK: 23056285 |
| Required for completion of spermatogenesis | MIK: 17130239 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| May cause delay in germ cell differentiation | MIK: 23056285 |
| Required for completion of spermatogenesis | MIK: 17130239 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17130239 |
Required f
or complet
ion of spe
rmatogenes
is
|
|
|
|
Male infertility |
|
Show abstract |
| 23056285 |
May cause
delay in g
erm cell d
ifferentia
tion
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|