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    ARL6 ADP ribosylation factor like GTPase 6 [ Homo sapiens (human) ]

    Gene ID: 84100, updated on 11-Jul-2021

    Summary

    Official Symbol
    ARL6provided by HGNC
    Official Full Name
    ADP ribosylation factor like GTPase 6provided by HGNC
    Primary source
    HGNC:HGNC:13210
    See related
    Ensembl:ENSG00000113966 MIM:608845
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBS3; RP55
    Summary
    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). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
    Expression
    Broad expression in testis (RPKM 2.3), brain (RPKM 1.6) and 24 other tissues See more
    Orthologs
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    Genomic context

    See ARL6 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (97762581..97812585)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (97483365..97520086)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EPH receptor A6 Neighboring gene uncharacterized LOC107986103 Neighboring gene uncharacterized LOC101929278 Neighboring gene uncharacterized LOC101929298 Neighboring gene uncharacterized LOC105373994 Neighboring gene crystallin beta-gamma domain containing 3 Neighboring gene ribosomal oxygenase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • MGC32934

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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
    involved_in Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    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
     
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of membrane coat ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ADP-ribosylation factor-like protein 6
    Names
    Bardet-Biedl syndrome 3 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008119.2 RefSeqGene

      Range
      4771..41492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278293.3NP_001265222.1  ADP-ribosylation factor-like protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001265222.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AC110491, AK292958, AL138043, BM464340, BM982145, BQ441226, BU183949
      Consensus CDS
      CCDS2928.1
      UniProtKB/Swiss-Prot
      Q9H0F7
      Related
      ENSP00000419619.1, ENST00000463745.6
      Conserved Domains (1) summary
      cd04157
      Location:19180
      Arl6; Arf-like 6 (Arl6) GTPase
    2. NM_001323513.2NP_001310442.1  ADP-ribosylation factor-like protein 6 isoform BB3SL

      Status: REVIEWED

      Description
      Transcript Variant: Variant 5 encodes BBS3L, aka the long isoform, which is retina-specific and is required for visual function (PMID:20333246).
      Source sequence(s)
      AC110491, AL138043
      UniProtKB/Swiss-Prot
      Q9H0F7
      Conserved Domains (1) summary
      cd04157
      Location:19180
      Arl6; Arf-like 6 (Arl6) GTPase
    3. NM_001323514.2NP_001310443.1  ADP-ribosylation factor-like protein 6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043
      Conserved Domains (1) summary
      cd04157
      Location:19159
      Arl6; Arf-like 6 (Arl6) GTPase
    4. NM_032146.5NP_115522.1  ADP-ribosylation factor-like protein 6 isoform 1

      See identical proteins and their annotated locations for NP_115522.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AC110491, AK292958, AL136815, AL138043, BG722744, BM464340, BM982145, BQ441226, BU183949, DC323603
      Consensus CDS
      CCDS2928.1
      UniProtKB/Swiss-Prot
      Q9H0F7
      Related
      ENSP00000337722.2, ENST00000335979.6
      Conserved Domains (1) summary
      cd04157
      Location:19180
      Arl6; Arf-like 6 (Arl6) GTPase
    5. NM_177976.3NP_816931.1  ADP-ribosylation factor-like protein 6 isoform 1

      See identical proteins and their annotated locations for NP_816931.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AC110491, AK292958, AL136815, AL138043, BM464340, BM705017, BM982145, BQ441226, BU183949, DC323603
      Consensus CDS
      CCDS2928.1
      UniProtKB/Swiss-Prot
      Q9H0F7
      Related
      ENSP00000377756.1, ENST00000394206.5
      Conserved Domains (1) summary
      cd04157
      Location:19180
      Arl6; Arf-like 6 (Arl6) GTPase

    RNA

    1. NR_103511.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an alternate 3' terminal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL138043, BC024239
    2. NR_136595.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043
    3. NR_136597.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043
    4. NR_136598.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043
    5. NR_136600.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043
    6. NR_136601.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043
    7. NR_136602.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC110491, AL138043

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      97762581..97812585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007312.2XP_016862801.1  ADP-ribosylation factor-like protein 6 isoform X2

      Conserved Domains (1) summary
      cd04157
      Location:19159
      Arl6; Arf-like 6 (Arl6) GTPase
    2. XM_017007311.2XP_016862800.1  ADP-ribosylation factor-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      Q9H0F7
      Conserved Domains (1) summary
      cd04157
      Location:19180
      Arl6; Arf-like 6 (Arl6) GTPase

    RNA

    1. XR_001740319.2 RNA Sequence

    2. XR_924186.3 RNA Sequence

    3. XR_924185.3 RNA Sequence

    4. XR_002959599.1 RNA Sequence

    5. XR_924188.3 RNA Sequence

    6. XR_924184.3 RNA Sequence

    7. XR_924189.3 RNA Sequence

    8. XR_924187.3 RNA Sequence

    9. XR_001740321.2 RNA Sequence

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