Free for academic non-profit institutions. Other users need a Commercial license
ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008] See more...
Aliases for ARL3 Gene
Aliases for ARL3 Gene
External Ids for ARL3 Gene
- HGNC: 694
- Entrez Gene: 403
- Ensembl: ENSG00000138175
- OMIM: 604695
- UniProtKB: P36405
Previous GeneCards Identifiers for ARL3 Gene
- GC10M103329
- GC10M103669
- GC10M104567
- GC10M104100
- GC10M104098
- GC10M104423
- GC10M098068
Summaries for ARL3 Gene
-
ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
GeneCards Summary for ARL3 Gene
ARL3 (ADP Ribosylation Factor Like GTPase 3) is a Protein Coding gene. Diseases associated with ARL3 include Joubert Syndrome 35 and Retinitis Pigmentosa 83. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is ARL2.
UniProtKB/Swiss-Prot Summary for ARL3 Gene
-
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) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). 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 to the cilium, including myristoylated NPHP3 and prenylated INPP5E (PubMed:30269812). Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity).
Additional gene information for ARL3 Gene
- Monarch Initiative
- Search for ARL3 at DataMed
- Search for ARL3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARL3 Gene
Genomics for ARL3 Gene
GeneHancer (GH) Regulatory Elements for ARL3 Gene
Promoters and enhancers for ARL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ARL3 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARL3
- Top Transcription factor binding sites by QIAGEN in the ARL3 gene promoter:
-
- Cdc5
- Egr-2
- Egr-4
- GATA-2
- NF-1
- NF-1/L
- PPAR-gamma1
- PPAR-gamma2
- TBP
Genomic Locations for ARL3 Gene
Genomic Locations for ARL3 Gene
- chr10:102,673,727-102,714,433
- (GRCh38/hg38)
- Size:
- 40,707 bases
- Orientation:
- Minus strand
- chr10:104,433,484-104,474,190
- (GRCh37/hg19)
- Size:
- 40,707 bases
- Orientation:
- Minus strand
Genomic View for ARL3 Gene
Genes around ARL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.32 by HGNC
- 10q24.32 by Entrez Gene
- 10q24.32 by Ensembl
ARL3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ARL3 Gene
Proteins for ARL3 Gene
-
Protein details for ARL3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P36405-ARL3_HUMAN
- Recommended name:
- ADP-ribosylation factor-like protein 3
- Protein Accession:
- P36405
- B2R6C7
- Q53X83
- Q5JSM2
Protein attributes for ARL3 Gene
- Size:
- 182 amino acids
- Molecular mass:
- 20456 Da
- Quaternary structure:
-
- 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) (PubMed:11303027, PubMed:11847227, PubMed:18588884). Interacts with RP2; interaction is direct and stimulated with the activated GTP-bound form of ARL3 (PubMed:16472755). Interacts with SYS1 (PubMed:11303027, PubMed:11847227, PubMed:15077113). The GTP-bound form interacts with ARL2BP and PDE6D (PubMed:11303027, PubMed:11847227). Microtubule-associated protein (PubMed:11303027, PubMed:16525022). May interact with GOLGA4 (PubMed:11303027). Interacts with GGA1; the interaction recruits PKD1:PKD2 complex to trans-Golgi network and is required for ciliary targeting of PKD1:PKD2 complex (By similarity).
Protein Expression for ARL3 Gene
Post-translational modifications for ARL3 Gene
Other Protein References for ARL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ARL3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ARL3
- Novus Biologicals Antibodies for ARL3
-
Abcam antibodies for ARL3
- Invitrogen Antibodies for ARL3 (AFLGC-ARL3)
- antibodies-online: Show 37 available ARL3 Antibodies ranked by validation data
-
Biorbyt antibodies for ARL3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ARL3
- Origene Custom Protein Services for ARL3
- ProSpec Recombinant Proteins for ARL3
- antibodies-online: Search results for available ARL3 related products ranked by validation data
-
Abcam proteins for ARL3
No data available for DME Specific Peptides for ARL3 Gene
Domains & Families for ARL3 Gene
Gene Families for ARL3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ARL3 Gene
- Blocks:
-
- ADP-ribosylation factor
- Alpha G-protein (transducin) signature
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ARL3 Gene
- GenScript: Design optimal peptide antigens:
-
- ADP-ribosylation factor-like protein 3 (ARL3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P36405- Family:
-
- Belongs to the small GTPase superfamily. Arf family.
Function for ARL3 Gene
Molecular function for ARL3 Gene
- UniProtKB/Swiss-Prot 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) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). 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 to the cilium, including myristoylated NPHP3 and prenylated INPP5E (PubMed:30269812). Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity).
- GENATLAS Biochemistry:
- ADP-ribosylation factor-like 3,21kDa,low molecular weight GTP binding protein without intrinsic or ARF stimulated GTPase activity,ubiquitously expressed in normal tissues,also in tumor cell lines
Phenotypes From GWAS Catalog for ARL3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IEA | -- |
| GO:0003924 | GTPase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 11847227 |
| GO:0005525 | GTP binding | TAS,IDA | 18588884 |
Phenotypes for ARL3 Gene
- MGI mutant phenotypes for ARL3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ARL3:
Animal Model Products
-
Taconic Biosciences Mouse Models for ARL3
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARL3 - Select products 50% OFF >
- * ARL3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ARL3 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for ARL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARL3
- genomics-online: gRNA clones - Search results for available ARL3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARL3
miRNA for ARL3 Gene
- miRTarBase miRNAs that target ARL3
-
- hsa-mir-103a-3p (MIRT027108)
- hsa-mir-16-5p (MIRT031723)
- hsa-mir-6875-3p (MIRT669496)
- hsa-mir-6881-3p (MIRT669497)
- hsa-mir-6780a-3p (MIRT669498)
- hsa-mir-7111-3p (MIRT669499)
- hsa-mir-103a-2-5p (MIRT669500)
- hsa-mir-4680-5p (MIRT669501)
- hsa-mir-4778-3p (MIRT669502)
- hsa-mir-877-3p (MIRT669503)
- hsa-mir-512-5p (MIRT669504)
- hsa-mir-3646 (MIRT669505)
- hsa-mir-4429 (MIRT669506)
- hsa-mir-320d (MIRT669507)
- hsa-mir-320c (MIRT669508)
- hsa-mir-320b (MIRT669509)
- hsa-mir-320a (MIRT669510)
- hsa-mir-4660 (MIRT719650)
- hsa-mir-1976 (MIRT719651)
- hsa-mir-6736-3p (MIRT719652)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARL3
- Browse OriGene Inhibitory RNA Products For ARL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL3
- genomics-online: shRNA clones - Search results for available ARL3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ARL3 - Select products 50% OFF >
- * ARL3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ARL3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for ARL3
- Addgene plasmids for ARL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARL3
- genomics-online: cdna clones - Search results for available ARL3 gene related products
- orf clones - Search results for available ARL3 gene related products
Cell Line Products
-
Horizon Cell Lines for ARL3
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARL3 Gene
Localization for ARL3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ARL3 Gene
- Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, spindle. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| golgi apparatus | 5 |
| cytosol | 4 |
| plasma membrane | 3 |
| endosome | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Centrosome (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 16525022 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005794 | Golgi apparatus | IDA,IEA | 16525022 |
Pathways & Interactions for ARL3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cargo trafficking to the periciliary membrane | ||
| 2 | Organelle biogenesis and maintenance |
.56
|
|
Pathways by source for ARL3 Gene
4 Reactome pathways for ARL3 Gene
Interacting Proteins for ARL3 Gene
Selected Interacting proteins:
P36405-ARL3_HUMAN
ENSP00000260746
for ARL3 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ARL3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000281 | mitotic cytokinesis | IMP | 16525022 |
| GO:0001822 | kidney development | ISS,IEA | -- |
| GO:0006892 | post-Golgi vesicle-mediated transport | IMP | 20106869 |
| GO:0006893 | Golgi to plasma membrane transport | ISS,IEA | -- |
| GO:0007049 | cell cycle | IEA | -- |
No data available for SIGNOR curated interactions for ARL3 Gene
Transcripts for ARL3 Gene
mRNA/cDNA for ARL3 Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000260746 3834 bps (ENST00000260746.6)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARL3 - Select products 50% OFF >
- * ARL3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ARL3 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for ARL3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARL3
- genomics-online: gRNA clones - Search results for available ARL3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARL3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARL3
- Browse OriGene Inhibitory RNA Products For ARL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL3
- genomics-online: shRNA clones - Search results for available ARL3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ARL3 - Select products 50% OFF >
- * ARL3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ARL3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for ARL3
- Addgene plasmids for ARL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARL3
- genomics-online: cdna clones - Search results for available ARL3 gene related products
- orf clones - Search results for available ARL3 gene related products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - |
Relevant External Links for ARL3 Gene
- GeneLoc Exon Structure for
- ARL3
Expression for ARL3 Gene
This gene is overexpressed in Retina (10.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARL3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARL3
SOURCE GeneReport for Unigene cluster for ARL3 Gene:
Hs.182215mRNA Expression by UniProt/SwissProt for ARL3 Gene:
P36405-ARL3_HUMAN
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).
Evidence on tissue expression from TISSUES for ARL3 Gene
- Nervous system(4.8)
- Liver(4.2)
- Skin(4.2)
- Eye(3.2)
- Lung(2.7)
Primer Products
-
OriGene qPCR primer pairs for ARL3
-
OriGene qPCR primer pairs and template standards for ARL3
- genomics-online: primer clones - Search results for available ARL3 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARL3 Gene
Orthologs for ARL3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ARL3 31 30 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ARL3 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ARL3 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ARL3 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Arl3 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Arl3 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ARL3 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ARL3 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ARL3 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | arl3 30 |
|
||
| Str.11398 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.17388 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | arl3 31 30 |
|
OneToOne | |
| zgc73049 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004496 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | dnd 31 30 |
|
OneToOne | |
| CG6560 32 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | arl-3 31 32 30 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5648 31 |
|
OneToOne |
- Species where no ortholog for ARL3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ARL3 Gene
- ENSEMBL:
- Gene Tree for ARL3 (if available)
- TreeFam:
- Gene Tree for ARL3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ARL3: view image
Paralogs for ARL3 Gene
Paralogs for ARL3 Gene
(28) SIMAP similar genes for ARL3 Gene using alignment to 1 proteins:
- ARL3_HUMAN
Variants for ARL3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARL3 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 587372 | Pathogenic: JOUBERT SYNDROME 35 | 102,685,872(-) | G/A | MISSENSE_VARIANT | |
| 617788 | Pathogenic: Progressive cone degeneration | 102,689,912(-) | C/A | MISSENSE_VARIANT | |
| rs1564730440 | Uncertain Significance: Retinitis pigmentosa 83 | 102,689,939(-) | T/C | MISSENSE_VARIANT | |
| rs770782663 | Uncertain Significance: JOUBERT SYNDROME 35; not provided. Joubert syndrome 35 (JBTS35) [MIM:618161] | 102,685,871(-) | C/Tp.Arg149His | MISSENSE_VARIANT | |
| rs776901858 | Joubert syndrome 35 (JBTS35) [MIM:618161] | p.Arg149Cys |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2668455 | CNV | deletion | 23128226 |
| nsv831969 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.40;
8.83% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ARL3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL3 Gene
Disorders for ARL3 Gene
(16) MalaCards diseases for ARL3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| joubert syndrome 35 |
|
|
| retinitis pigmentosa 83 |
|
|
| cone-rod dystrophy 6 |
|
|
| joubert syndrome 1 |
|
|
| retinitis pigmentosa |
|
|
Search ARL3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ARL3_HUMAN- Joubert syndrome 35 (JBTS35) [MIM:618161]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive. {ECO:0000269 PubMed:30269812}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Retinitis pigmentosa 83 (RP83) [MIM:618173]: An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:26964041}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ARL3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ARL3 Gene
Publications for ARL3 Gene
- Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. (PMID: 12417528) Grayson C … Cheetham ME (Human molecular genetics 2002) 3 4 23 54
- ADP-ribosylation factors (ARFs) and ARF-like 1 (ARL1) have both specific and shared effectors: characterizing ARL1-binding proteins. (PMID: 11303027) Van Valkenburgh H … Kahn RA (The Journal of biological chemistry 2001) 3 4 23 54
- Assignment of the human ADP-ribosylation factor-like 3 (ARL3) gene to chromosome 10 band q23.3 by radiation hybrid mapping. (PMID: 10072593) Kim HS (Cytogenetics and cell genetics 1998) 2 3 23 54
- ADP-ribosylation factor (ARF)-like 3, a new member of the ARF family of GTP-binding proteins cloned from human and rat tissues. (PMID: 8034651) Cavenagh MM … Kahn RA (The Journal of biological chemistry 1994) 2 3 4 54
- ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. (PMID: 30269812) Alkanderi S … Sayer JA (American journal of human genetics 2018) 3 4 54
ExternalLinks
Products for ARL3 Gene
- Custom Antibody ServicesOriGene Antibodies for ARL3
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for ARL3
- Origene Custom Protein Services for ARL3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARL3
- Browse OriGene Inhibitory RNA Products For ARL3
- OriGene qPCR primer pairs for ARL3
- OriGene qPCR primer pairs and template standards for ARL3
- OriGene CRISPR knockouts for ARL3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ARL3
- Sino Biological Human cDNA Clone for ARL3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ARL3
- Novus Biologicals proteins and lysates for ARL3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ARL3
- Abcam proteins for ARL3
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for ARL3
- Taconic Biosciences Mouse Models for ARL3
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ARL3 (AFLGC-ARL3)
- Addgene plasmids for ARL3
- antibodies-online: Show 37 available ARL3 Antibodies ranked by validation data
- antibodies-online: Search results for available ARL3 related products ranked by validation data
- antibodies-online: Search results for available ARL3 related products ranked by validation data
- Horizon Cell Lines for ARL3
- genomics-online: cdna clones - Search results for available ARL3 gene related products
- orf clones - Search results for available ARL3 gene related products
- genomics-online: gRNA clones - Search results for available ARL3 gene related products
- genomics-online: primer clones - Search results for available ARL3 gene related products
- genomics-online: shRNA clones - Search results for available ARL3 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARL3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARL3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ARL3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARL3
- Biorbyt antibodies for ARL3
Sources for ARL3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource