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]
End	97,801,229 bp[1]
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)[2]
End	59,639,391 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• nucleotide binding; • GTP binding; • metal ion binding; • GO:0001948 protein binding; • phospholipid binding; • GTPase activity;
Cellular component	• cytoplasm; • cytosol; • cell projection; • BBSome; • membrane; • cell membrane; • intracellular; • GO:0035085 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 morphogenesis; • protein transport from ciliary membrane to plasma membrane; • transport; • intracellular protein transport; • vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologs
	84100
	56297
	ENSG00000113966
	ENSMUSG00000022722
	Q9H0F7
	O88848
	NM_001278293; NM_032146; NM_177976; NM_001323513; NM_001323514
	NM_019665; NM_001347244
	NP_001265222; NP_001310442; NP_001310443; NP_115522; NP_816931
	NP_001334173; NP_062639
	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

GRCh38: Ensembl release 89: ENSG00000113966 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000022722 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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.

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. 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000113966 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid15258860-5] 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.

[pmid15314642-6] 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.

[entrez-7] "Entrez Gene: ARL6 ADP-ribosylation factor-like 6".

Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

ARL6

References

External links

Further reading