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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

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa04810Regulation of actin cytoskeleton
hsa04666Fc gamma R-mediated phagocytosis
hsa04360Axon guidance
hsa05133Pertussis
hsa05170Human immunodeficiency virus 1 infection
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

PubMed references

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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