POF1B

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called ""POF1"" and ""POF2"" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]

Description

POF1B actin binding protein

Tissue specificity

Tissue enhanced (intestine, skin)

Subcell location

Nucleoplasm, Golgi apparatus

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (85277396 - 85379717)

Ensembl ID

ENSG00000124429  (ver. 103.38)

Orthologs

Mouse Pof1b: ENSMUSG00000034607

UniProt

Q8WVV4

neXtProt

NX_Q8WVV4

Human splice variants
Mouse splice variants

Protein structure