Arl6 ADP-ribosylation factor-like 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Arl6provided by MGI
Official Full Name: ADP-ribosylation factor-like 6provided by MGI
Primary source: MGI:MGI:1927136
See related: Ensembl:ENSMUSG00000022722 AllianceGenome:MGI:1927136
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: BBS3; 1110018H24Rik; 2210411E14Rik
Summary: Predicted to enable GTP binding activity; NAD+-protein ADP-ribosyltransferase activity; and phospholipid binding activity. Involved in fat cell differentiation and protein localization to non-motile cilium. Acts upstream of or within several processes, including protein transport from ciliary membrane to plasma membrane; regulation of smoothened signaling pathway; and retina layer formation. Located in cytosol and membrane. Is expressed in several structures, including central nervous system; eye; forelimb bud; genitourinary system; and node. Used to study Bardet-Biedl syndrome 3. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; and retinitis pigmentosa 55. Orthologous to human ARL6 (ARF like GTPase 6). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E18 (RPKM 9.1), CNS E14 (RPKM 7.1) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C1.3; 16 34.83 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (59433312..59459772, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (59612949..59639409, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1.
Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
IFT27 prevents aggregation of nucleotide-free ARL6 in solution
Title: The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.
Bbs3 knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes
Title: Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.
These data demonstrate that the BBS3L transcript is required for proper retinal function and organization.
Title: Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.
ARL6 was expressed in the neural plate and probably in the somites
Title: Expression of ADP-ribosylation factor (ARF)-like protein 6 during mouse embryonic development.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:497277 (e-PCR)
- UniSTS:497277

Arl6 (e-PCR), detects polymorphism
- UniSTS:497277

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables NAD+-protein ADP-ribosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Ras protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in fat cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to cilium	ISO Inferred from Sequence Orthology more info
involved_in protein localization to non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein transport from ciliary membrane to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in cilium	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
part_of membrane coat	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ADP-ribosylation factor-like protein 6

Names: ADP-ribosylation-like 6; ADP-ribosylation-like factor homolog ARL6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.