This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Transmembrane protein 47.
May govern F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity).
Human | |
---|---|
Gene Name: | TMEM47 |
Uniprot: | Q9BQJ4 |
Entrez: | 83604 |
Belongs to: |
---|
TMEM47 family |
Transmembrane protein 47
Mass (kDA):
19.998 kDA
Human | |
---|---|
Location: | Xp21.1 |
Sequence: | X; NC_000023.11 (34627075..34657285, complement) |
Expressed in adult brain, fetal brain, cerebellum, heart, lung, prostate and thyroid.
Membrane; Multi-pass membrane protein. Cell junction, adherens junction. Colocalizes with FYB1 at cell-cell contacts in podocytes.
PMID: 24603971 by Utami K.H., et al. Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.
PMID: 25489052 by Myklebust L.M., et al. Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.