BNC1
Function
Transcriptional activator (By similarity). It is likely involved in the regulation of keratinocytes terminal differentiation in squamous epithelia and hair follicles (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). It is involved in the positive regulation of oocyte maturation, probably acting through the control of BMP15 levels and regulation of AKT signaling cascade (PubMed:30010909). May also play a role in the early development of embryos (By similarity).
Involvement in disease
Premature ovarian failure 16
POF16
An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation on Ser-537 and Ser-541 leads to cytoplasmic localization.
Tissue Specificity
In epidermis, primarily detected in cells of the basal or immediately suprabasal layers (at protein level) (PubMed:16891417). In hair follicles, mainly expressed in the outer root sheath (at protein level) (PubMed:8034748). Expressed in epidermis, testis and foreskin, and to a lower extent in thymus, spleen, mammary glands, placenta, brain and heart (PubMed:9687312). Expressed in the ovary, notably in oocytes (PubMed:30010909).
Cellular localization
- Nucleus
- Cytoplasm
- Nucleus
- Nucleoplasm
- Relocates to the midpiece of the flagellum during late spermiogenesis in spermatids.
Alternative names
BNC, BNC1, Zinc finger protein basonuclin-1