ARL6

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

ARL6
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesARL6, BBS3, RP55, ADP-ribosylation factor-like 6, ADP ribosylation factor like GTPase 6
External IDsOMIM: 608845 MGI: 1927136 HomoloGene: 12960 GeneCards: ARL6
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q11.2Start97,764,521 bp[1]
End97,801,229 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 16: 59.61 – 59.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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".

Further reading


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