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

Gene ID: 84100, updated on 13-Jul-2016
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 HPRD:10588; MIM:608845; Vega:OTTHUMG00000159189
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]
Orthologs
Location:
3q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (97762875..97812585)
105 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 MYC induced nuclear antigen

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemThe primary cilium is a sensory organelle that is required for the transduction of numerous external signals such as growth factors, hormones and morphogens, and an intact primary cilium is needed fo...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • MGC32934

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
intermembrane transport IEA
Inferred from Electronic Annotation
more info
 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to nonmotile primary cilium IEA
Inferred from Electronic Annotation
more info
 
protein polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with BBSome ISS
Inferred from Sequence or Structural Similarity
more info
 
axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane coat ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
NOT primary cilium IDA
Inferred from Direct Assay
more info
PubMed 
primary cilium TAS
Traceable Author Statement
more info
 
Preferred Names
ADP-ribosylation factor-like protein 6
Names
Bardet-Biedl syndrome 3 protein

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_001278293.2NP_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, DC323603
    Consensus CDS
    CCDS2928.1
    UniProtKB/Swiss-Prot
    Q9H0F7
    Related
    ENSP00000419619, OTTHUMP00000214308, ENST00000463745, OTTHUMT00000353756
    Conserved Domains (2) summary
    smart00178
    Location:11181
    SAR; Sar1p-like members of the Ras-family of small GTPases
    cd04157
    Location:19180
    Arl6; Arf-like 6 (Arl6) GTPase
  2. NM_001323513.1NP_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
  3. NM_001323514.1NP_001310443.1  ADP-ribosylation factor-like protein 6 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043
  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, ENST00000335979
    Conserved Domains (2) summary
    smart00178
    Location:11181
    SAR; Sar1p-like members of the Ras-family of small GTPases
    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, ENST00000394206
    Conserved Domains (2) summary
    smart00178
    Location:11181
    SAR; Sar1p-like members of the Ras-family of small GTPases
    cd04157
    Location:19180
    Arl6; Arf-like 6 (Arl6) GTPase

RNA

  1. NR_103511.1 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, DC323603
  2. NR_136595.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043
  3. NR_136597.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043
  4. NR_136598.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043
  5. NR_136600.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043
  6. NR_136601.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043
  7. NR_136602.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC110491, AL138043

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

    Range
    97762875..97812585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007313.1XP_016862802.1  

  2. XM_017007312.1XP_016862801.1  

  3. XM_017007311.1XP_016862800.1  

  4. XM_006713783.3XP_006713846.1  

    Conserved Domains (1) summary
    cd04157
    Location:19159
    Arl6; Arf-like 6 (Arl6) GTPase

RNA

  1. XR_924186.2 RNA Sequence

  2. XR_924185.2 RNA Sequence

  3. XR_924188.2 RNA Sequence

  4. XR_001740319.1 RNA Sequence

  5. XR_924184.2 RNA Sequence

  6. XR_924189.2 RNA Sequence

  7. XR_924187.2 RNA Sequence

  8. XR_001740322.1 RNA Sequence

  9. XR_001740323.1 RNA Sequence

  10. XR_001740320.1 RNA Sequence

  11. XR_001740321.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    97446398..97483119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)