|
Gene id |
1072 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CFL1 Gene UCSC Ensembl |
|
Aliases |
CFL, HEL-S-15, cofilin |
|
Gene name |
cofilin 1 |
|
Alternate names |
cofilin-1, 18 kDa phosphoprotein, cofilin 1 (non-muscle), cofilin, non-muscle isoform, epididymis secretory protein Li 15, p18, |
|
Gene location |
11q13.1 (65858179: 65854672) Exons: 4 NC_000011.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distri
|
|
OMIM |
601442 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Neural tube defects | GAD: 17352815 |
| Altered differentiation and/or maturation of endometrium | INFBASE: 25405865 |
| Endometriosis | INFBASE: 22276910 |
| Female infertility | INFBASE: 20713416 |
| Endometriosis | INFBASE: 20646534 |
| Unexplained infertility | INFBASE: 25405865 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male factor infertility | MIK: 29961538 |
| Sperm capacitation | MIK: 26085344 |
| Acrosome reaction | MIK: 26085344 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26085344 |
Sperm capa
citation,
Acrosome r
eaction,
Male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 29961538 |
Male facto
r infertil
ity
|
|
|
318 (128 couple
s presenting wi
th OAT (MF) and
118 maternal a
ge-matched cont
rol (no MF) sub
jects undergoin
g infertility t
reatment, 72 su
rplus cryoprese
rved blastocyst
s)
|
Male infertility |
RNA-seq
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|