Human Gene ARL3 (ENST00000260746.6_7) from GENCODE V47lift37
  Description: ADP ribosylation factor like GTPase 3 (from RefSeq NM_004311.4)
Gencode Transcript: ENST00000260746.6_7
Gencode Gene: ENSG00000138175.9_9
Transcript (Including UTRs)
   Position: hg19 chr10:104,433,488-104,474,154 Size: 40,667 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr10:104,436,651-104,474,032 Size: 37,382 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,433,488-104,474,154)mRNA (may differ from genome)Protein (182 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARL3_HUMAN
DESCRIPTION: RecName: Full=ADP-ribosylation factor-like protein 3;
FUNCTION: Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase- activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins such as NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium. Does not act as an allosteric activator of the cholera toxin catalytic subunit.
SUBUNIT: Interacts with RP2. The GTP-bound form interacts with PDE6D. Found in a complex with ARL3, RP2 and UNC119 (or UNC119B); RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119 (or UNC119B). Interacts with SYS1. The GTP-bound form interacts with ARL2BP and PDE6D. Interacts with RP2; interaction is direct and stimulated with the activated GTP-bound form of ARL3. Microtubule-associated protein. Does not interact with TBCC. May interact with GOLGA4.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, spindle. Nucleus. Cytoplasm, cytoskeleton, centrosome. Cytoplasm. Cell projection, cilium. Note=Detected predominantly in the photoreceptor connecting cilium. Present on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules.
TISSUE SPECIFICITY: Expressed in the retina. Strongly expressed in connecting cilium, the myoid region of the inner segments (IS) and in cone photoreceptors (at protein level).
SIMILARITY: Belongs to the small GTPase superfamily. Arf family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ARL3
Diseases sorted by gene-association score: retinitis pigmentosa 2 (19), retinitis pigmentosa 66 (10), renal-hepatic-pancreatic dysplasia (7), retinitis pigmentosa (1), joubert syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.05 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 543.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.70122-0.432 Picture PostScript Text
3' UTR -1068.803163-0.338 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR024156 - Small_GTPase_ARF
IPR006689 - Small_GTPase_ARF/SAR

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF01926 - 50S ribosome-binding GTPase
PF04670 - Gtr1/RagA G protein conserved region
PF08477 - Ras of Complex, Roc, domain of DAPkinase
PF09439 - Signal recognition particle receptor beta subunit

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on P36405
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008017 microtubule binding
GO:0019003 GDP binding
GO:0046872 metal ion binding

Biological Process:
GO:0000281 mitotic cytokinesis
GO:0001822 kidney development
GO:0006892 post-Golgi vesicle-mediated transport
GO:0007049 cell cycle
GO:0007224 smoothened signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0015031 protein transport
GO:0042073 intraciliary transport
GO:0042461 photoreceptor cell development
GO:0051301 cell division
GO:0060271 cilium assembly

Cellular Component:
GO:0000139 Golgi membrane
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005876 spindle microtubule
GO:0005881 cytoplasmic microtubule
GO:0005929 cilium
GO:0016020 membrane
GO:0030496 midbody
GO:0032391 photoreceptor connecting cilium
GO:0042995 cell projection
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  U07151 - Human GTP binding protein (ARL3) mRNA, complete cds.
BC009841 - Homo sapiens ADP-ribosylation factor-like 3, mRNA (cDNA clone MGC:15269 IMAGE:3926032), complete cds.
AF493889 - Homo sapiens ADP-ribosylation factor-like protein 3 (ARL3) mRNA, complete cds.
AK312525 - Homo sapiens cDNA, FLJ92891, Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.
DQ893231 - Synthetic construct clone IMAGE:100005861; FLH195446.01X; RZPDo839C06152D ADP-ribosylation factor-like 3 (ARL3) gene, encodes complete protein.
DQ896560 - Synthetic construct Homo sapiens clone IMAGE:100011020; FLH195442.01L; RZPDo839C06151D ADP-ribosylation factor-like 3 (ARL3) gene, encodes complete protein.
AB529068 - Synthetic construct DNA, clone: pF1KB3981, Homo sapiens ARL3 gene for ADP-ribosylation factor-like 3, without stop codon, in Flexi system.
CR407637 - Homo sapiens full open reading frame cDNA clone RZPDo834F042D for gene ARL3, ADP-ribosylation factor-like 3 complete cds, without stopcodon.
BC008032 - Homo sapiens ADP-ribosylation factor-like 3, mRNA (cDNA clone IMAGE:3610040), partial cds.
AF038193 - Homo sapiens clone 23608 mRNA sequence.
JD048638 - Sequence 29662 from Patent EP1572962.
BC025759 - Homo sapiens ADP-ribosylation factor-like 3, mRNA (cDNA clone IMAGE:5204342), with apparent retained intron.
JD249314 - Sequence 230338 from Patent EP1572962.
JD056631 - Sequence 37655 from Patent EP1572962.
JD145596 - Sequence 126620 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P36405 (Reactome details) participates in the following event(s):

R-HSA-5638016 RP2:ARL3:GDP:UNC119B dissociates
R-HSA-5624133 ARL3:GTP binds the UNC119B complex
R-HSA-5638006 ARL3 hydrolyzes GTP
R-HSA-5638004 RP2 binds ARL3:GTP:UNC119B
R-HSA-5624130 Myristoylated NPHP3 translocates into the ciliary membrane
R-HSA-5638007 RP2 activates the GTPase activity of ARL3
R-HSA-5624138 Trafficking of myristoylated proteins to the cilium
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: ARFL3, ARL3_HUMAN, B2R6C7, ENST00000260746.1, ENST00000260746.2, ENST00000260746.3, ENST00000260746.4, ENST00000260746.5, NM_004311, P36405, Q53X83, Q5JSM2, uc317glq.1, uc317glq.2
UCSC ID: ENST00000260746.6_7
RefSeq Accession: NM_004311.4
Protein: P36405 (aka ARL3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ARL3:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.