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Aliases for ARL6 Gene

Aliases for ARL6 Gene

  • ADP-Ribosylation Factor-Like 6 2 3
  • BBS3 3 4 6
  • Bardet-Biedl Syndrome 3 Protein 3 4
  • RP55 3 6
  • ADP-Ribosylation Factor-Like Protein 6 3

External Ids for ARL6 Gene

Previous Symbols for ARL6 Gene

  • BBS3

Summaries for ARL6 Gene

Entrez Gene Summary for ARL6 Gene

  • The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013]

GeneCards Summary for ARL6 Gene

ARL6 (ADP-Ribosylation Factor-Like 6) is a Protein Coding gene. Diseases associated with ARL6 include bardet-biedl syndrome 3 and retinitis pigmentosa 55. GO annotations related to this gene include GTP binding and phospholipid binding. An important paralog of this gene is ARL1.

UniProtKB/Swiss-Prot for ARL6 Gene

  • 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 (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).

Gene Wiki entry for ARL6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL6 Gene

Genomics for ARL6 Gene

Genomic Location for ARL6 Gene

Start:
97,764,521 bp from pter
End:
97,801,242 bp from pter
Size:
36,722 bases
Orientation:
Plus strand

Genomic View for ARL6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL6 Gene

Regulatory Elements for ARL6 Gene

Proteins for ARL6 Gene

  • Protein details for ARL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0F7-ARL6_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 6
    Protein Accession:
    Q9H0F7
    Secondary Accessions:
    • A8KA93
    • D3DN31

    Protein attributes for ARL6 Gene

    Size:
    186 amino acids
    Molecular mass:
    21097 Da
    Quaternary structure:
    • Interacts with SEC61B, ARL6IP1, ARL6IP2, ARL6IP3, ARL6IP4 ARL6IP5 and ARL6IP6. Interacts (GTP-bound form) with the BBSome a complex that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (GTP-free form) with IFT27.

    Three dimensional structures from OCA and Proteopedia for ARL6 Gene

    Alternative splice isoforms for ARL6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARL6 Gene

Proteomics data for ARL6 Gene at MOPED

Post-translational modifications for ARL6 Gene

No Post-translational modifications

Other Protein References for ARL6 Gene

No data available for DME Specific Peptides for ARL6 Gene

Domains for ARL6 Gene

Gene Families for ARL6 Gene

HGNC:
  • ARL :ADP-ribosylation factors-like
  • ARF :ADP-ribosylation factors

Protein Domains for ARL6 Gene

UniProtKB/Swiss-Prot:

ARL6_HUMAN
Family:
  • Belongs to the small GTPase superfamily. Arf family.:
    • Q9H0F7
genes like me logo Genes that share domains with ARL6: view

Function for ARL6 Gene

Molecular function for ARL6 Gene

UniProtKB/Swiss-Prot 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 (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).

Gene Ontology (GO) - Molecular Function for ARL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity --
GO:0004871 signal transducer activity --
GO:0005515 protein binding IPI 20603001
GO:0005525 GTP binding IEA --
GO:0005543 phospholipid binding ISS --
genes like me logo Genes that share ontologies with ARL6: view
genes like me logo Genes that share phenotypes with ARL6: view

Animal Models for ARL6 Gene

MGI Knock Outs for ARL6:

miRNA for ARL6 Gene

miRTarBase miRNAs that target ARL6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ARL6 Gene

Localization for ARL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL6 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARL6 Gene COMPARTMENTS Subcellular localization image for ARL6 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ARL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IEA --
GO:0005879 axonemal microtubule ISS --
genes like me logo Genes that share ontologies with ARL6: view

Pathways for ARL6 Gene

SuperPathways for ARL6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006612 protein targeting to membrane ISS --
GO:0006886 intracellular protein transport --
GO:0006996 organelle organization TAS --
GO:0007186 G-protein coupled receptor signaling pathway --
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with ARL6: view

No data available for Pathways by source for ARL6 Gene

Transcripts for ARL6 Gene

Unigene Clusters for ARL6 Gene

ADP-ribosylation factor-like 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARL6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for ARL6 Gene

GeneLoc Exon Structure for
ARL6
ECgene alternative splicing isoforms for
ARL6

Expression for ARL6 Gene

mRNA expression in normal human tissues for ARL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARL6 Gene

SOURCE GeneReport for Unigene cluster for ARL6 Gene Hs.373801

genes like me logo Genes that share expressions with ARL6: view

Orthologs for ARL6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARL6 36
  • 100 (n)
  • 100 (a)
ARL6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARL6 36
  • 94.44 (n)
  • 95.16 (a)
ARL6 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARL6 36
  • 95.52 (n)
  • 97.85 (a)
ARL6 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arl6 36
  • 89.43 (n)
  • 95.7 (a)
Arl6 16
Arl6 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARL6 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARL6 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arl6 36
  • 90.26 (n)
  • 95.51 (a)
chicken
(Gallus gallus)
Aves ARL6 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL6 37
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24812 36
tropical clawed frog
(Silurana tropicalis)
Amphibia arl6 36
  • 78.49 (n)
  • 87.1 (a)
Str.20494 36
zebrafish
(Danio rerio)
Actinopterygii arl6 36
  • 75.45 (n)
  • 88.17 (a)
arl6 37
  • 88 (a)
OneToOne
Dr.18638 36
fruit fly
(Drosophila melanogaster)
Insecta CG7735 36
  • 56.23 (n)
  • 55.49 (a)
CG7735 37
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea arl-6 36
  • 50.83 (n)
  • 44.75 (a)
arl-6 37
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL1 37
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToOne
Species with no ortholog for ARL6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARL6 Gene

ENSEMBL:
Gene Tree for ARL6 (if available)
TreeFam:
Gene Tree for ARL6 (if available)

Paralogs for ARL6 Gene

Paralogs for ARL6 Gene

genes like me logo Genes that share paralogs with ARL6: view

Variants for ARL6 Gene

Sequence variations from dbSNP and Humsavar for ARL6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs11916766 -- 97,763,867(+) TGGAG(C/T)TGGGC upstream-variant-2KB
rs75534908 -- 97,763,730(+) ACATA(C/T)ACTAG upstream-variant-2KB
rs78700090 -- 97,762,870(+) CCTTG(G/T)TTTCC upstream-variant-2KB
rs79483294 -- 97,763,167(+) ACGAT(C/T)AGAAG upstream-variant-2KB
rs140717739 -- 97,763,073(+) TTGGC(C/T)GCAAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ARL6 Gene

Variant ID Type Subtype PubMed ID
nsv520553 CNV Gain 19592680
esv2656904 CNV Deletion 23128226
nsv822182 CNV Loss 20364138

Relevant External Links for ARL6 Gene

HapMap Linkage Disequilibrium report
ARL6
Human Gene Mutation Database (HGMD)
ARL6
Locus Specific Mutation Databases (LSDB)
ARL6

Disorders for ARL6 Gene

(2) OMIM Diseases for ARL6 Gene (608845)

UniProtKB/Swiss-Prot

ARL6_HUMAN
  • Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]: 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:0000269 PubMed:15258860, ECO:0000269 PubMed:15314642, ECO:0000269 PubMed:23219996}. 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:0000269 PubMed:19956407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ARL6 Gene

Relevant External Links for ARL6

GeneTests
ARL6
GeneReviews
ARL6
Genetic Association Database (GAD)
ARL6
Human Genome Epidemiology (HuGE) Navigator
ARL6
genes like me logo Genes that share disorders with ARL6: view

Publications for ARL6 Gene

  1. Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (PMID: 15258860) Chiang A.P. … Sheffield V.C. (Am. J. Hum. Genet. 2004) 2 3 4 23
  2. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. (PMID: 15314642) Fan Y. … Leroux M.R. (Nat. Genet. 2004) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PMID: 19077438) Chung W.K. … Tiwari H.K. (Hum. Hered. 2009) 3 49
  5. Biochemical characterization of missense mutations in the Arf/Arl- family small GTPase Arl6 causing Bardet-Biedl syndrome. (PMID: 19236846) Kobayashi T. … Katada T. (Biochem. Biophys. Res. Commun. 2009) 3 4

Products for ARL6 Gene

  • Addgene plasmids for ARL6

Sources for ARL6 Gene

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