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

Gene ID: 84100, updated on 24-Jan-2015
Official Symbol
ARL6provided by HGNC
Official Full Name
ADP-ribosylation factor-like 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). 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]
Orthologs
See ARL6 in MapViewer
Location:
3q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (97764521..97801242)
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 CDV3 pseudogene 1 Neighboring gene EPH receptor A6 Neighboring gene uncharacterized LOC101929278 Neighboring gene uncharacterized LOC101929298 Neighboring gene beta-gamma crystallin domain containing 3 Neighboring gene MYC induced nuclear antigen Neighboring gene gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.
NHGRI GWA Catalog
  • 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
 
organelle organization TAS
Traceable Author Statement
more info
 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 vesicular 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
ADP-ribosylation factor-like protein 6
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_008119.1 

    Range
    4771..38785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_001265222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the shortest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC110491, AK292958, BU183949, DC323603
    Consensus CDS
    CCDS2928.1
    UniProtKB/Swiss-Prot
    Q9H0F7
    Related
    ENSP00000419619, OTTHUMP00000214308, ENST00000463745, OTTHUMT00000353756
    Conserved Domains (2) summary
    cd04157
    Location:19180
    Arl6; Arf-like 6 (Arl6) GTPase
    COG1100
    Location:13143
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  2. NM_032146.4NP_115522.1  ADP-ribosylation factor-like protein 6

    See proteins identical to NP_115522.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC110491, AK292958, AL136815, BG722744, BU183949, DC323603
    Consensus CDS
    CCDS2928.1
    UniProtKB/Swiss-Prot
    Q9H0F7
    Related
    ENSP00000337722, ENST00000335979
    Conserved Domains (2) summary
    cd04157
    Location:19180
    Arl6; Arf-like 6 (Arl6) GTPase
    COG1100
    Location:13143
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  3. NM_177976.2NP_816931.1  ADP-ribosylation factor-like protein 6

    See proteins identical to NP_816931.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 3. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC110491, AK292958, AL136815, BM705017, BU183949, DC323603
    Consensus CDS
    CCDS2928.1
    UniProtKB/Swiss-Prot
    Q9H0F7
    Related
    ENSP00000377756, ENST00000394206
    Conserved Domains (2) summary
    cd04157
    Location:19180
    Arl6; Arf-like 6 (Arl6) GTPase
    COG1100
    Location:13143
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    97764521..97801242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713780.1XP_006713843.1  

    See proteins identical to XP_006713843.1

    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
  2. XM_006713779.1XP_006713842.1  

    See proteins identical to XP_006713842.1

    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. XM_006713783.1XP_006713846.1  

    See proteins identical to XP_006713846.1

    Conserved Domains (1) summary
    cd04157
    Location:19159
    Arl6; Arf-like 6 (Arl6) GTPase
  4. XM_006713781.1XP_006713844.1  

    See proteins identical to XP_006713844.1

    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
  5. XM_006713782.1XP_006713845.1  

    See proteins identical to XP_006713845.1

    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

RNA

  1. XR_427382.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    94853270..94889996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)