ARL6

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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View/Edit Human

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

External links

Further reading




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