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Aliases ARL4D, ARF4L, ARL6, ADP ribosylation factor like GTPase 4D
External IDs MGI: 1933155 HomoloGene: 1255 GeneCards: 379
RNA expression pattern
PBB GE ARL4D 203586 s at tn.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 17: 43.4 – 43.4 Mb Chr 11: 101.67 – 101.67 Mb
PubMed search [1] [2]
View/Edit Human View/Edit Mouse

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]


  1. ^ Smith SA, Holik PR, Stevens J, Melis R, White R, Albertsen H (Jul 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 WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750. 
  14. ^ Dolgin E (Jun 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 (Jan 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 Biology 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]

  • Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W (Oct 1994). "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1". Science 266 (5182): 66–71. doi:10.1126/science.7545954. PMID 7545954. 
  • Harshman K, Bell R, Rosenthal J, Katcher H, Miki Y, Swenson J, Gholami Z, Frye C, Ding W, Dayananth P (Aug 1995). "Comparison of the positional cloning methods used to isolate the BRCA1 gene". Human Molecular Genetics 4 (8): 1259–66. doi:10.1093/hmg/4.8.1259. PMID 7581362. 
  • Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Jacobs S, Schilf C, Fliegert F, Koling S, Weber Y, Schürmann A, Joost HG (Aug 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 Letters 456 (3): 384–8. doi:10.1016/S0014-5793(99)00759-0. PMID 10462049. 
  • Ingley E, Williams JH, Walker CE, Tsai S, Colley S, Sayer MS, Tilbrook PA, Sarna M, Beaumont JG, Klinken SP (Oct 1999). "A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit". FEBS Letters 459 (1): 69–74. doi:10.1016/S0014-5793(99)01188-6. PMID 10508919. 
  • Nonaka Y, Tsuda N, Shichijo S, Ito M, Maeda Y, Harada M, Kamura T, Shigemori M, Itoh K (Oct 2002). "Recognition of ADP-ribosylation factor 4-like by HLA-A2-restricted and tumor-reactive cytotoxic T lymphocytes from patients with brain tumors". Tissue Antigens 60 (4): 319–27. doi:10.1034/j.1399-0039.2002.600406.x. PMID 12472661. 
  • Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC (Sep 2004). "Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)". American Journal of Human Genetics 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". Nature Genetics 36 (9): 989–93. doi:10.1038/ng1414. PMID 15314642. 
  • Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  • Hofmann I, Thompson A, Sanderson CM, Munro S (Apr 2007). "The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane". Current Biology 17 (8): 711–6. doi:10.1016/j.cub.2007.03.007. PMID 17398095.