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MT000896

UniProt Annotations

Entry Information

Gene Name	ADP-ribosylation factor-like 2 binding protein
Protein Entry	AR2BP_HUMAN
UniProt ID	Q9Y2Y0
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2Y0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Y0-2; Sequence=VSP_025317, VSP_025318; Note=No experimental confirmation available.;
Disease	Retinitis pigmentosa with or without situs inversus (RPSI) [MIM:615434]: A 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. {ECO:0000269\|PubMed:23849777}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:18234692}.
Similarity	Belongs to the ARL2BP family. {ECO:0000305}.
Subcellular Location	Cytoplasm. Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, cilium basal body. Note=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. {ECO:0000250}.
Subunit	Found in a complex with ARL2BP, ARL2 and SLC25A6. Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with STAT2, STAT3 and STAT4. Interacts with GTP-bound ARL2 and ARL3; the complex ARL2-ARL2BP as well as ARL2BP alone, binds to ANT1. Interaction with ARL2 may be required for targeting to cilia basal body. Interacts with STAT3; interaction is enhanced with ARL2. {ECO:0000269\|PubMed:10488091, ECO:0000269\|PubMed:11303027, ECO:0000269\|PubMed:11809823, ECO:0000269\|PubMed:11847227, ECO:0000269\|PubMed:18234692, ECO:0000269\|PubMed:18981177, ECO:0000269\|PubMed:19368893, ECO:0000269\|PubMed:23849777}.
Tissue Specificity	Expressed in retina pigment epithelial cells (at protein level). Widely expressed. {ECO:0000269\|PubMed:10488091, ECO:0000269\|PubMed:23849777}.