ARL4D

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ADP-ribosylation factor-like 4D
Identifiers
Symbols ARL4D ; ARF4L; ARL6
External IDs OMIM600732 MGI1933155 HomoloGene1255 GeneCards: ARL4D Gene
RNA expression pattern
PBB GE ARL4D 203586 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 379 80981
Ensembl ENSG00000175906 ENSMUSG00000034936
UniProt P49703 Q99PE9
RefSeq (mRNA) NM_001661 NM_025404
RefSeq (protein) NP_001652 NP_079680
Location (UCSC) Chr 17:
41.48 – 41.48 Mb
Chr 11:
101.67 – 101.67 Mb
PubMed search [1] [2]

ADP-ribosylation factor-like protein 4D is a protein that in humans is encoded by the ARL4D gene.[1][2]

ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet–Biedl syndrome (BBS).[2]

Model organisms[edit]

Model organisms have been used in the study of ARL4D function. A conditional knockout mouse line, called Arl4dtm1a(EUCOMM)Wtsi[11][12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty five tests were carried out on mutant mice and significant abnormalities were observed.[9] Homozygous mutant females had decreased bone mineral content, heart weight, lean body mass and CD8-positive, alpha-beta memory T cell number. Males had abnormal rib morphology with vertebral transformation. Both sexes displayed a reduction in dorsal third ventricle area and hippocampal area.[9]

References[edit]

  1. ^ Smith SA, Holik PR, Stevens J, Melis R, White R, Albertsen H (Dec 1995). "Isolation and mapping of a gene encoding a novel human ADP-ribosylation factor on chromosome 17q12-q21". Genomics 28 (1): 113–5. doi:10.1006/geno.1995.1115. PMID 7590735. 
  2. ^ a b "Entrez Gene: ARL4D ADP-ribosylation factor-like 4D". 
  3. ^ "DEXA data for Arl4d". Wellcome Trust Sanger Institute. 
  4. ^ "Radiography data for Arl4d". Wellcome Trust Sanger Institute. 
  5. ^ "Peripheral blood lymphocytes data for Arl4d". Wellcome Trust Sanger Institute. 
  6. ^ "Heart weight data for Arl4d". Wellcome Trust Sanger Institute. 
  7. ^ "Salmonella infection data for Arl4d". Wellcome Trust Sanger Institute. 
  8. ^ "Citrobacter infection data for Arl4d". Wellcome Trust Sanger Institute. 
  9. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  10. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ^ "International Knockout Mouse Consortium". 
  12. ^ "Mouse Genome Informatics". 
  13. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  14. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  15. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  16. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]