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Open Access Articles- Top Results for ARL6

ARL6

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Identifiers
SymbolsARL6 ; BBS3; RP55
External IDsOMIM608845 MGI1927136 HomoloGene12960 GeneCards: ARL6 Gene
RNA expression pattern
File:PBB GE ARL6 gnf1h00615 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez8410056297
EnsemblENSG00000113966ENSMUSG00000022722
UniProtQ9H0F7O88848
RefSeq (mRNA)NM_001278293NM_019665
RefSeq (protein)NP_001265222NP_062639
Location (UCSC)Chr 3:
97.48 – 97.52 Mb
Chr 16:
59.61 – 59.64 Mb
PubMed search[1][2]

ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene.[1][2][3]

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.[3]

References

  1. 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. PMC 1182025. PMID 15258860. doi:10.1086/423903. 
  2. 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. PMID 15314642. doi:10.1038/ng1414. 
  3. 3.0 3.1 "Entrez Gene: ARL6 ADP-ribosylation factor-like 6". 

External links

Further reading

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