Format

Send to:

Choose Destination

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

Gene ID: 84100, updated on 7-Dec-2018

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

Genomic context

See ARL6 in Genome Data Viewer
Location:
3q11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (97762581..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 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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 biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • 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...

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
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to non-motile 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
 
protein transport from ciliary membrane to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
NOT cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA 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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000463745.5
    Conserved Domains (1) summary
    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
    UniProtKB/Swiss-Prot
    Q9H0F7
    Conserved Domains (2) summary
    smart00178
    Location:11179
    SAR; Sar1p-like members of the Ras-family of small GTPases
    cd04157
    Location:19180
    Arl6; Arf-like 6 (Arl6) GTPase
  3. NM_001323514.1NP_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_103511.1 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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 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

Support Center