InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARL2BP

Summary

InnateDB Protein

IDBP-33129.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARL2BP

Protein Name

ADP-ribosylation factor-like 2 binding protein

Synonyms

BART; BART1; RP66;

Species

Homo sapiens

Ensembl Protein

ENSP00000219204

InnateDB Gene

IDBG-33127 (ARL2BP)

Protein Structure

UniProt Annotation

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:0000269PubMed:18234692}.

Subcellular Localization

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}.

Disease Associations

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:0000269PubMed:23849777}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in retina pigment epithelial cells (at protein level). Widely expressed. {ECO:0000269PubMed:10488091, ECO:0000269PubMed:23849777}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003713	transcription coactivator activity
GO:0005083	small GTPase regulator activity
GO:0005515	protein binding

Biological Process

GO:0007165	signal transduction
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0050790	regulation of catalytic activity
GO:0051457	maintenance of protein location in nucleus
GO:2001141	regulation of RNA biosynthetic process