InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARL6

Summary

InnateDB Protein

IDBP-479802.3

Last Modified

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

Gene Symbol

ARL6

Protein Name

ADP-ribosylation factor-like 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000418057

InnateDB Gene

IDBG-46461 (ARL6)

Protein Structure

UniProt Annotation

Function

Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper retinal function and organization. {ECO:0000269PubMed:20207729, ECO:0000269PubMed:20603001, ECO:0000269PubMed:22072986}.

Subcellular Localization

Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.

Disease Associations

Bardet-Biedl syndrome 3 (BBS3) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:15258860, ECO:0000269PubMed:15314642}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 55 (RP55) [MIM:613575]: A retinal dystrophy belonging to the group of pigmentary retinopathies. 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. {ECO:0000269PubMed:19956407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0005543	phospholipid binding
GO:0019001	guanyl nucleotide binding
GO:0031683	G-protein beta/gamma-subunit complex binding
GO:0046872	metal ion binding

Biological Process

GO:0006612	protein targeting to membrane
GO:0006886	intracellular protein transport
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007264	small GTPase mediated signal transduction
GO:0007368	determination of left/right symmetry
GO:0007601	visual perception
GO:0016055	Wnt signaling pathway
GO:0032402	melanosome transport
GO:0042384	cilium assembly
GO:0051258	protein polymerization

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005879	axonemal microtubule
GO:0005930	axoneme
GO:0016020	membrane
GO:0030117	membrane coat
GO:0034464	BBSome
GO:0060170	ciliary membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit
IPR001806 Small GTPase superfamily
IPR005225 Small GTP-binding protein domain
IPR006687 Small GTPase superfamily, SAR1-type
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR006762 Gtr1/RagA G protein
IPR013684 Mitochondrial Rho-like
IPR019009 Signal recognition particle receptor, beta subunit
IPR024156 Small GTPase superfamily, ARF type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00503
PF00071
PF00025
PF04670
PF08477
PF09439

PRINTS

PR00318
PR00449
PR00328

PIRSF

SMART

SM00275
SM00178
SM00177

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt