Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ARL6 Gene

protein-coding   GIFtS: 59
GCID: GC03P097483

ADP-Ribosylation Factor-Like 6


(Previous symbol: BBS3)
  See ARL6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
ADP-Ribosylation Factor-Like 61 2
BBS31 2 3 5
Bardet-Biedl Syndrome 3 Protein2 3
RP552 5
ADP-Ribosylation Factor-Like Protein 62

External Ids:    HGNC: 132101   Entrez Gene: 841002   Ensembl: ENSG000001139667   OMIM: 6088455   UniProtKB: Q9H0F73   

Export aliases for ARL6 gene to outside databases

Previous GC identifers: GC03P094093 GC03P096787 GC03P098764 GC03P098804 GC03P098966 GC03P094853


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 1, modifier of, and arl6-related retinitis pigmentosa. GO annotations related to this gene include phospholipid binding and GTP binding. An important paralog of this gene is ARL15.

UniProtKB/Swiss-Prot: ARL6_HUMAN, Q9H0F7
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

Gene Wiki entry for ARL6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARL6 gene promoter:
         HFH-3   C/EBPbeta   Pbx1a   MEF-2   CUTL1   GATA-1   MEF-2A   FOXI1   Cart-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARL6 promoter sequence
   Search Chromatin IP Primers for ARL6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARL6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q11.2   Ensembl cytogenetic band:  3q11.2   HGNC cytogenetic band: 3q11.2

ARL6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARL6 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P097483:  view genomic region     (about GC identifiers)

Start:
97,483,365 bp from pter      End:
97,519,953 bp from pter
Size:
36,589 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ARL6_HUMAN, Q9H0F7 (See protein sequence)
Recommended Name: ADP-ribosylation factor-like protein 6  
Size: 186 amino acids; 21097 Da
Subunit: 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
1 PDB 3D structure from and Proteopedia for ARL6:
2H57 (3D)    
Secondary accessions: A8KA93 D3DN31
Alternative splicing: 2 isoforms:  Q9H0F7-1   Q9H0F7-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ARL6: NX_Q9H0F7

Explore proteomics data for ARL6 at MOPED


See ARL6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001265222.1  NP_115522.1  NP_816931.1  

ENSEMBL proteins: 
 ENSP00000418057   ENSP00000419619   ENSP00000418740   ENSP00000419934   ENSP00000337722  
 ENSP00000377756  

ARL6 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Proteins for ARL6
OriGene Protein Over-expression Lysate for ARL6
OriGene MassSpec for ARL6
OriGene Custom Protein Services for ARL6
GenScript Custom Purified and Recombinant Proteins Services for ARL6
Novus Biologicals ARL6 Protein
Novus Biologicals ARL6 Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
ProSpec Recombinant Protein for ARL6
Cloud-Clone Corp. Proteins for ARL6

 
Search eBioscience for Proteins for ARL6 

ARL6 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of ARL6
Browse R&D Systems for Antibodies
OriGene Antibodies for ARL6
OriGene Custom Antibody Services for ARL6
Novus Biologicals ARL6 Antibodies
Abcam antibodies for ARL6
Cloud-Clone Corp. Antibodies for ARL6
ThermoFisher Antibodies for ARL6
LSBio Antibodies in human, mouse, rat for ARL6

ARL6 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for ARL6
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for ARL6
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for ARL6
Cloud-Clone Corp. CLIAs for ARL6
Search eBioscience for ELISAs for ARL6 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
HGNC Gene Families:
ARL: ADP-ribosylation factors-like
ARF: ADP-ribosylation factors

4 InterPro protein domains:
 IPR005225 Small_GTP-bd_dom
 IPR027417 P-loop_NTPase
 IPR006689 Small_GTPase_ARF/SAR
 IPR024156 Small_GTPase_ARF

Graphical View of Domain Structure for InterPro Entry Q9H0F7

ProtoNet protein and cluster: Q9H0F7

1 Blocks protein domain: IPB006688 ADP-ribosylation factor

UniProtKB/Swiss-Prot: ARL6_HUMAN, Q9H0F7
Similarity: Belongs to the small GTPase superfamily. Arf family


Find genes that share domains with ARL6           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: ARL6_HUMAN, Q9H0F7
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

     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003924GTPase activity ----
GO:0004871signal transducer activity ----
GO:0005515protein binding IPI--
GO:0005525GTP binding IEA--
GO:0005543phospholipid binding ISS--
     
Find genes that share ontologies with ARL6           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for ARL6:
 Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

     10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arl6):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
 growth/size/body  nervous system  reproductive system  skeleton  vision/eye 

Find genes that share phenotypes with ARL6           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Arl6tm2Vcs for ARL6

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARL6
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARL6

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARL6
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARL6

miRNA
Products:
    
miRTarBase miRNAs that target ARL6:
hsa-mir-218-5p (MIRT046980)

Block miRNA regulation of human, mouse, rat ARL6 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate ARL6:
hsa-miR-3647-3p
SwitchGear 3'UTR luciferase reporter plasmidARL6 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ARL6
Predesigned siRNA for gene silencing in human, mouse, rat ARL6

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for ARL6

Clone
Products:
     
OriGene clones in human, mouse for ARL6 (see all 12)
OriGene ORF clones in mouse, rat for ARL6
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: ARL6 (NM_006407)
Sino Biological Human cDNA Clone for ARL6
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARL6
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARL6
Addgene plasmids for ARL6 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for ARL6
Browse ESI BIO Cell Lines and PureStem Progenitors for ARL6 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL6


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
ARL6_HUMAN, Q9H0F7: 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: 

CompartmentConfidence
cytoskeleton5
plasma membrane5
cytosol3
extracellular1
nucleus1

Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005634nucleus ----
GO:0005737cytoplasm ISS--
GO:0005879axonemal microtubule ISS--
GO:0005930axoneme ISS--

Find genes that share ontologies with ARL6           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus




    Pathway & Disease-focused RT2 Profiler PCR Array including ARL6: 
          Primary Cilia in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for ARL6

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ARL6 (Q9H0F71, 3 ENSP000003377224) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
InteractantInteraction Details
GeneCardExternal ID(s)
BBS1Q8NFJ91, 3EBI-2891949,EBI-1805484 I2D: score=1 
ARL6IP1Q150413, ENSP000003067884I2D: score=3 STRING: ENSP00000306788
ARL6IP4Q66PJ33, ENSP000003134224I2D: score=3 STRING: ENSP00000313422
ARL6IP5O759153, ENSP000002732584I2D: score=3 STRING: ENSP00000273258
ARL6IP6Q8N6S53, ENSP000003153574I2D: score=3 STRING: ENSP00000315357
About this table

Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006612protein targeting to membrane ISS--
GO:0006886intracellular protein transport ----
GO:0007186G-protein coupled receptor signaling pathway ----
GO:0007264small GTPase mediated signal transduction IEA--
GO:0007368determination of left/right symmetry ISS--

Find genes that share ontologies with ARL6           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ARL6



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for ARL6 gene (3 alternative transcripts): 
NM_001278293.1  NM_032146.4  NM_177976.2  

Unigene Cluster for ARL6:

ADP-ribosylation factor-like 6
Hs.373801  [show with all ESTs]
Unigene Representative Sequence: BC024239
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000493990(uc003drw.3) ENST00000463745(uc010hoy.3) ENST00000462412
ENST00000496713 ENST00000476753 ENST00000494363 ENST00000335979(uc003dru.3)
ENST00000394206(uc003drv.3)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat ARL6 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate ARL6:
hsa-miR-3647-3p
SwitchGear 3'UTR luciferase reporter plasmidARL6 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for ARL6
Predesigned siRNA for gene silencing in human, mouse, rat ARL6
Clone
Products:
     
OriGene clones in human, mouse for ARL6 (see all 12)
OriGene ORF clones in mouse, rat for ARL6
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: ARL6 (NM_006407)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARL6
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARL6
Addgene plasmids for ARL6 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for ARL6
OriGene qSTAR qPCR primer pairs in human, mouse for ARL6
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARL6
  QuantiTect SYBR Green Assays in human, mouse, rat ARL6
  QuantiFast Probe-based Assays in human, mouse, rat ARL6

Additional mRNA sequence: 

AK292958.1 AK310829.1 AK311281.1 AL136815.1 BC024239.2 

6 DOTS entries:

DT.120855570  DT.100020319  DT.40316749  DT.100751594  DT.120855578  DT.40210483 

Selected AceView cDNA sequences (see all 57):

AL136815 BC024239 BM464340 BM705017 BM982145 BI914103 NM_032146 NM_177976 
BX280713 AI382134 AA058979 BU607306 AI936661 AI570477 AA284208 BG433067 
BQ429563 BG541683 AA732878 AI659604 AI934887 BQ441226 AW840430 CD250432 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ARL6    About this scheme

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


ECgene alternative splicing isoforms for ARL6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

ARL6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGCATTAAAA
ARL6 Expression
About this image


ARL6 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Endoderm (Gastrulation Derivatives)
         Definitive Endoderm
 
 Testis (Reproductive System)
ARL6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ARL6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.373801
    Pathway & Disease-focused RT2 Profiler PCR Array including ARL6: 
          Primary Cilia in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for ARL6
OriGene qSTAR qPCR primer pairs in human, mouse for ARL6
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARL6
QuantiTect SYBR Green Assays in human, mouse, rat ARL6
QuantiFast Probe-based Assays in human, mouse, rat ARL6
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL6

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

TryGeneCards Plus

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

Orthologs for ARL6 gene from Selected species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Arl61 , 5 ADP-ribosylation factor-like 61, 5 89.43(n)1
95.7(a)1
  16 (34.83 cM)5
562971  NM_019665.31  NP_062639.31 
 596129495 
chicken
(Gallus gallus)
Aves ARL66
ADP-ribosylation factor-like 6
90(a)
1 ↔ 1
1(90584389-90602400)
lizard
(Anolis carolinensis)
Reptilia ARL66
ADP-ribosylation factor-like 6
85(a)
1 ↔ 1
3(164154300-164173015)
African clawed frog
(Xenopus laevis)
Amphibia Xl.248122 Xenopus laevis transcribed sequence with moderate similarity more 79.15(n)    CA971706.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.186382 Transcribed sequence with moderate similarity to protein more 76.98(n)    BQ481315.1 
fruit fly
(Drosophila melanogaster)
Insecta CG77351 CG7735 56.23(n)
55.49(a)
  37236  NM_137577.2  NP_611421.1 
worm
(Caenorhabditis elegans)
Secernentea arl-61 arl-6 50.83(n)
44.75(a)
  183311  NM_065592.1  NP_497993.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL16
Soluble GTPase with a role in regulation of membra...
42(a)
1 → many
II(567875-568426) YBR164C


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
Paralogs for ARL6 gene
ARL152  ARL92  ARL8A2  ARL8B2  ARL102  ARL12  
Selected SIMAP similar genes for ARL6 using alignment to 3 protein entries:     ARL6_HUMAN (see all proteins) (see all similar genes):
ARF1    ARL8A    ARL8B    ARL17A    ARL17B    ARF4
ARL2    ARL3    ARF5    ARL1    ARF3    ARL14
TRIM23    SAR1B    ARF6    ARL11    ARL5B    ARL5A

Find genes that share paralogs with ARL6           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for ARL6 (see all 658)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0276444
Bardet-Biedl syndrome 3 (BBS3)4--see VAR_0276442 T R mis40--------
VAR_0641844
Retinitis pigmentosa 55 (RP55)4--see VAR_0641842 A V mis40--------
VAR_0276454
Bardet-Biedl syndrome 3 (BBS3)4--see VAR_0276452 G A mis40--------
VAR_0276434
Bardet-Biedl syndrome 3 (BBS3)4--see VAR_0276432 T M mis40--------
VAR_0276464
Bardet-Biedl syndrome 3 (BBS3)4--see VAR_0276462 L W mis40--------
rs1048936801,2
Cpathogenic197463844(+) CAAAAC/G/TGACGA 6 T R M mis10--------
rs1048936781,2
Cpathogenic197483649(+) ACCGTC/TGAATT 4 R * stg10--------
rs1048936811,2
Cpathogenic197487445(+) AGGCTG/TGCAAG 4 W L mis10--------
rs2007336151,2
C--94878679(+) TTAAAA/GAAAAA 2 -- int10--------
rs1893624821,2
--97458466(+) GATAAA/CGATTT 2 -- us2k10--------

HapMap Linkage Disequilibrium report for ARL6 (97483365 - 97519953 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for ARL6:    About this table    
Variant IDTypeSubtypePubMed ID
esv2656904CNV Deletion23128226
nsv822182CNV Loss20364138
nsv520553CNV Gain19592680

Human Gene Mutation Database (HGMD): ARL6
Locus Specific Mutation Databases (LSDB): ARL6

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ARL6
DNA2.0 Custom Variant and Variant Library Synthesis for ARL6

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 608845   
OMIM disorders: 209900  613575  
UniProtKB/Swiss-Prot: ARL6_HUMAN, Q9H0F7
  • 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for ARL6 (see all 25):    
    About MalaCards
    bardet-biedl syndrome 1, modifier of    arl6-related retinitis pigmentosa    bardet-biedl syndrome 15    arl6-related bardet-biedl syndrome
    retinitis pigmentosa 55    bardet-biedl syndrome 3    bardet-biedl syndrome 2    bardet-biedl syndrome 10
    bardet-biedl syndrome 14, modifier of    bardet-biedl syndrome 11    bardet-biedl syndrome 8    bardet-biedl syndrome 13
    bardet-biedl syndrome 5    bardet-biedl syndrome 4    bardet-biedl syndrome    bardet-biedl syndrome 17
    bardet-biedl syndrome 9    bardet-biedl syndrome, modifier of    bardet-biedl syndrome 19    bardet-biedl syndrome 12

    3 diseases from the University of Copenhagen DISEASES database for ARL6:
    Bardet-Biedl syndrome     Polydactyly     Fundus dystrophy

    Find genes that share disorders with ARL6           About GenesLikeMe

    GeneTests: ARL6
    GeneReviews: ARL6
    Genetic Association Database (GAD): ARL6
    Human Genome Epidemiology (HuGE) Navigator: ARL6 (5 documents)

    Export disorders for ARL6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ARL6 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with ARL6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (PubMed id 15258860)1, 2, 3, 9 Chiang A.P....Sheffield V.C. (Am. J. Hum. Genet. 2004)
    2. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. (PubMed id 15314642)1, 2, 3 Fan Y.... Leroux M.R. (Nat. Genet. 2004)
    3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    4. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. (PubMed id 21282186)1, 3 Pretorius P.R....Slusarski D.C. (Hum. Mol. Genet. 2011)
    5. Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. (PubMed id 20207729)1, 2 Wiens C.J.... Leroux M.R. (J. Biol. Chem. 2010)
    6. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. (PubMed id 20333246)1, 2 Pretorius P.R.... Slusarski D.C. (PLoS Genet. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. (PubMed id 19478329)1, 4 Aston K.I. and Carrell D.T. (J. Androl. 2009)
    9. Biochemical characterization of missense mutations in the Arf/Arl- family small GTPase Arl6 causing Bardet-Biedl syndrome. (PubMed id 19236846)1, 2 Kobayashi T.... Katada T. (Biochem. Biophys. Res. Commun. 2009)
    10. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PubMed id 19077438)1, 4 Chung W.K....Tiwari H.K. (Hum. Hered. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 84100 HGNC: 13210 AceView: ARL6 Ensembl:ENSG00000113966 euGenes: HUgn84100
    ECgene: ARL6 H-InvDB: ARL6

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ARL6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ARL6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ARL6 gene:
    Search GeneIP for patents involving ARL6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of ARL6
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ARL6   OriGene RNAi products in human, mouse, rat for ARL6  
     OriGene qPCR primer pairs and template standards for ARL6   OriGene Protein Over-expression Lysate for ARL6  
     OriGene MassSpec something-or-other for ARL6   OriGene clones in human, mouse for ARL6  
     OriGene qSTAR qPCR primer pairs in human, mouse for ARL6   OriGene Purified Protein for ARL6  
     OriGene ORF clones in mouse, rat for ARL6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ARL6   OriGene Custom Protein Services for ARL6  

     
     
     Block miRNA regulation of human, mouse, rat ARL6 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ARL6
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARL6 Predesigned siRNA for gene silencing in human, mouse, rat ARL6
     QuantiFast Probe-based Assays in human, mouse, rat ARL6 QuantiTect SYBR Green Assays in human, mouse, rat ARL6
     PCR Arrays including human, mouse, rat ARL6 Search Chromatin IP Primers for ARL6
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARL6  Search GeneGlobe Interaction Network for ARL6
     Regulatory tfbs in ARL6 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ARL6 GenScript cDNA clones with any tag delivered in your preferred vector for ARL6
     GenScript Custom Assay Services for ARL6 GenScript Custom overexpressing Cell Line Services for ARL6
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ARL6
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ARL6
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ARL6 antibodies
     ARL6 proteins
     ARL6 lysates
     Antibodies for ARL6
     See all of Abcam's Antibodies, Kits and Proteins for ARL6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ARL6
     Proteins for ARL6
     Antibodies for ARL6
     ELISAs for ARL6
     CLIAs for ARL6



     Browse ESI BIO Cell Lines and PureStem Progenitors for ARL6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARL6
     SwitchGear 3'UTR luciferase reporter plasmids for ARL6
     SwitchGear Promoter luciferase reporter plasmids for ARL6
     ThermoFisher Antibodies for ARL6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARL6
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARL6
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARL6
     LSBio Antibodies in human, mouse, rat for ARL6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Addgene plasmids for ARL6
      Search eBioscience for proteins for ARL6
      Search eBioscience for elisas for ARL6
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ARL6 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4