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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARL6 Gene

protein-coding   GIFtS: 55
GCID: GC03P097483

ADP-ribosylation factor-like 6


(Previous symbol: BBS3)
 Explore 18 diseases affiliated with
ARL6 via our new
 Human Malady Compendium 
Biological research products
for ARL6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ADP-Ribosylation Factor-Like 61 2
BBS31 2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARL6:
The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. ARF proteins are important
regulators of cellular traffic and are the founding members of an expanding family of homologous proteins and genomic
sequences. They depart from other small GTP-binding proteins by a unique structural device that implements front-back
communication from the N-terminus to the nucleotide-binding site. Studies of the mouse ortholog of this protein
suggest an involvement in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation.
Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been described.
(provided by RefSeq, Jul 2008)

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. 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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ARL6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 (By similarity). Interacts
(GTP-bound form) with the BBSome a complex that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H0F7

  • ARL6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_115522.1  NP_816931.1  

    ENSEMBL proteins: 
     ENSP00000418057   ENSP00000419619   ENSP00000418740   ENSP00000419934   ENSP00000337722  
     ENSP00000377756  

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    Uscn Proteins for ARL6

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005879axonemal microtubule ISS--
    GO:0005932microtubule basal body IEA--
    GO:0016020membrane ISS--
    GO:0030117membrane coat ISS--


    ARL6 for ontologies           About GeneDecksing



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

    ARL6 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006689 Small_GTPase_ARF/SAR
     IPR024156 Small_GTPase_ARF
     IPR005225 Small_GTP-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9H0F7

    ProtoNet protein and cluster: Q9H0F7

    1 Blocks protein family: IPB006688 ADP-ribosylation factor

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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. 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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ARL6:
    hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidARL6 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
    GO:0005543phospholipid binding ISS--
    GO:0046872metal ion binding IEA--


    ARL6 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Arl6tm2Vcs for ARL6
         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arl6):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size  nervous system  reproductive system  skeleton  vision/eye 

    ARL6 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARL6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/17 Interacting proteins for ARL6 (Q9H0F71, 3 ENSP000003377224) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006612protein targeting to membrane ISS--
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0007368determination of left/right symmetry ISS--
    GO:0007601visual perception IEA--
    GO:0016055Wnt receptor signaling pathway IMP--


    ARL6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARL6
    Search CenterWatch for drugs/clinical trials and news about ARL6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

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

    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)

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ARL6:
    hsa-miR-3647-3p
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    Inhib. RNA
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    Additional cDNA 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 

    24/57 AceView cDNA sequences (see all 57):

    NM_032146 NM_177976 BX280713 BM464340 BC024239 AL136815 BM982145 BI914103 
    BM705017 BG433067 AI936661 BQ441226 AI382134 AA732878 AA904677 BG722744 
    BQ429563 AA058979 BU607306 AI762435 BI918227 AA284208 AI659604 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARL6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCATTAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ARL6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARL6

    SOURCE GeneReport for Unigene cluster: Hs.373801
        SABiosciences Expression via Pathway-Focused PCR Array including ARL6: 
              Primary Cilia in human mouse rat

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    In Situ
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    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

    This gene was present in the common ancestor of animals.

    Orthologs for ARL6 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia ARL66
    --
    88(a)
    1 ↔ 1
    3(164160423-164171605)
    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 56.41(n)
    55.49(a)
      37236  NM_137577.2  NP_611421.1 
    worm
    (Caenorhabditis elegans)
    Secernentea arl-61 Protein ARL-6 50.83(n)
    44.75(a)
      183311  NM_065592.1  NP_497993.1 


    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
    Paralogs for ARL6 gene
    ARL5B2  ARL162  ARL5C2  ARL5A2  ARL12  
    18/30 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
    ARL3    ARF3    ARF5    ARL1    ARL14    TRIM23
    SAR1B    ARL2    ARF6    ARL11    ARL5B    ARL5A

    ARL6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/527 NCBI SNPs in ARL6 are shown (see all 527    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048936781,2
    Cpathogenic96686913(+) ACCGTC/TGAATT 4 R * stg10--------
    rs787000901,2
    C,--94851619(+) CCTTGT/GTTTCC 2 -- us2k12Minor allele frequency- G:0.15NA WA 120
    rs794832941,2
    C,--94851916(+) ACGATT/CAGAAG 2 -- us2k13Minor allele frequency- C:0.09NA WA EA 240
    rs755349081,2
    C,--94852479(+) ACATAC/TACTAG 2 -- us2k12Minor allele frequency- T:0.15NA WA 120
    rs1161621461,2
    C,F,--94853514(+) GGCGCC/TTGCTC 2 -- ut511Minor allele frequency- T:0.09WA 118
    rs773792381,2
    --94853962(+) GGGGGG/TGTGTG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs782373571,2
    --94854120(+) GTATCA/GTTCGT 2 -- int11Minor allele frequency- G:0.01NA 120
    rs747833641,2
    --94854438(+) GTAGCG/TTTTAA 2 -- int10--------
    rs15064451,2
    H,--94854620(+) TTTTAT/CTTATG 2 -- int14Minor allele frequency- C:0.00NS EA 416
    rs38066121,2
    C,F,H,--94854920(+) AAAATG/ATGAGA 2 -- int19Minor allele frequency- A:0.05NS EA 1172

    HapMap Linkage Disequilibrium report for ARL6 (97483365 - 97519953 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ARL6: --
    Human Gene Mutation Database (HGMD): ARL6

    Locus Specific Mutation Databases (LSDB): ARL6

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    (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

    ARL6 for disorders           About GeneDecksing

    OMIM gene information: 608845   
    OMIM disorders: 209900  613575  
    UniProtKB/Swiss-Prot: ARL6_HUMAN, Q9H0F7
  • Defects in ARL6 are a cause of Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]. Bardet-Biedl syndrome (BBS)
  • is a genetically heterogeneous disorder 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
  • Defects in ARL6 are the cause of retinitis pigmentosa type 55 (RP55) [MIM:613575]. RP55 is 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

    18 diseases for ARL6:    About MalaCards
    bardet-biedl syndrome    bardet-biedl syndrome 3    bardet-biedl syndrome 1    bardet-biedl syndrome 1, modifier of
    pigmentary retinopathy    retinitis pigmentosa    fundus dystrophy    intellectual disability
    meckel syndrome    retinal degeneration    retinitis    polydactyly
    azoospermia    retinal disease    blindness    obesity
    malaria    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for ARL6:
    Polydactyly     Fundus dystrophy
    GeneTests: ARL6
    Bardet-Biedl Syndrome

    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

    PubMed articles for ARL6 gene, integrated from 9 sources (see all 34):
    (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. (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. (2004)
    3. Functional analysis of BBS3 A89V that results in non- syndromic retinal degeneration. (PubMed id 21282186)1, 3 Pretorius P.R....Slusarski D.C. (2011)
    4. Bardet-Biedl syndrome-associated small GTPase ARL6 (B BS3) functions at or near the ciliary gate and modulates Wnt signaling. (PubMed id 20207729)1, 2 Wiens C.J....Leroux M.R. (2010)
    5. Identification and functional analysis of the vision- specific BBS3 (ARL6) long isoform. (PubMed id 20333246)1, 2 Pretorius P.R....Slusarski D.C. (2010)
    6. 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. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84100 HGNC: 13210 AceView: ARL6 Ensembl:ENSG00000113966 euGenes: HUgn84100
    ECgene: ARL6 H-InvDB: ARL6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARL6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARL6

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



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