ARL2BP
Function
Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2.
Involvement in disease
Retinitis pigmentosa 82 with or without situs inversus
RP82
An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ARL2BP family.
Tissue Specificity
Expressed in retina pigment epithelial cells (at protein level). Widely expressed.
Cellular localization
- Cytoplasm
- Mitochondrion intermembrane space
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Nucleus
- Cytoplasm
- Cytoskeleton
- Spindle
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Detected in the midbody matrix. Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. In retina photoreceptor cells, localized in the distal connecting cilia, basal body, ciliary-associated centriole, and ciliary rootlet. Interaction with ARL2 may be required for cilia basal body localization.
Alternative names
BART, BART1, ARL2BP, ADP-ribosylation factor-like protein 2-binding protein, ARF-like 2-binding protein, ARL2-binding protein, Binder of ARF2 protein 1