ARL6

ARL6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2H57
Identifiers
Aliases	ARL6 , BBS3, RP55, ADP-ribosylation factor-like 6, ADP ribosylation factor like GTPase 6
External IDs	OMIM: 608845 MGI: 1927136 HomoloGene: 12960 GeneCards: ARL6
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q11.2 Start 97,764,521 bp [1] End 97,801,229 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C1.3 Start 59,433,312 bp [2] End 59,459,754 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 endothelial cell middle temporal gyrus sperm bronchial epithelial cell oocyte prefrontal cortex Brodmann area 9 right uterine tube islet of Langerhans Top expressed in olfactory epithelium retina retinal pigment epithelium spermatid spermatocyte facial motor nucleus secondary oocyte atrioventricular valve habenula seminal vesicula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding metal ion binding protein binding phospholipid binding GTPase activity Cellular component cytoplasm cytosol cell projection BBSome membrane plasma membrane intracellular anatomical structure axoneme membrane coat extracellular exosome cytoskeleton axonemal microtubule cilium Biological process protein polymerization retina layer formation protein localization to non-motile cilium response to stimulus protein targeting to membrane small GTPase mediated signal transduction Wnt signaling pathway regulation of smoothened signaling pathway brain development determination of left/right symmetry cell projection organization protein localization to cilium melanosome transport protein transport fat cell differentiation visual perception cilium assembly protein transport from ciliary membrane to plasma membrane transport intracellular protein transport vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84100 56297 Ensembl ENSG00000113966 ENSMUSG00000022722 UniProt Q9H0F7 O88848 RefSeq (mRNA) NM_001278293 NM_032146 NM_177976 NM_001323513 NM_001323514 NM_019665 NM_001347244 RefSeq (protein) NP_001265222 NP_001310442 NP_001310443 NP_115522 NP_816931 NP_001334173 NP_062639 Location (UCSC) Chr 3: 97.76 – 97.8 Mb Chr 16: 59.43 – 59.46 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene. ^{[5] [6] [7]}

The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. ARF proteins are important regulators of cellular traffic and are the founding members of an expanding family of homologous proteins and genomic sequences. They depart from other small GTP-binding proteins by a unique structural device that implements front-back communication from the N-terminus to the nucleotide-binding site. Studies of the mouse ortholog of this protein suggest an involvement in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been described. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000113966 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022722 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC (Jul 2004). "Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)". Am J Hum Genet. 75 (3): 475–84. doi:10.1086/423903. PMC   1182025 . PMID   15258860.
6. Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR (Sep 2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome". Nat Genet. 36 (9): 989–93. doi: 10.1038/ng1414 . PMID   15314642.
7. "Entrez Gene: ARL6 ADP-ribosylation factor-like 6".

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
• Human ARL6 genome location and ARL6 gene details page in the UCSC Genome Browser .
• Overview of all the structural information available in the PDB for UniProt : Q9H0F7 (Human ADP-ribosylation factor-like protein 6 (ARL6)) at the PDBe-KB .

Further reading

• Sheffield VC, Carmi R, Kwitek-Black A, et al. (1995). "Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping". Hum. Mol. Genet. 3 (8): 1331–5. doi:10.1093/hmg/3.8.1331. PMID   7987310.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Jacobs S, Schilf C, Fliegert F, et al. (1999). "ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal". FEBS Lett. 456 (3): 384–8. doi:10.1016/S0014-5793(99)00759-0. PMID   10462049. S2CID   84422541.
• Ingley E, Williams JH, Walker CE, et al. (1999). "A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit". FEBS Lett. 459 (1): 69–74. doi:10.1016/S0014-5793(99)01188-6. PMID   10508919. S2CID   30948975.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Pasqualato S, Renault L, Cherfils J (2003). "Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication". EMBO Rep. 3 (11): 1035–41. doi:10.1093/embo-reports/kvf221. PMC   1307594 . PMID   12429613.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209 (inactive 2024-04-25). PMID   16189514. S2CID   4427026.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.